#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAP2K7	5609	broad.mit.edu	37	19	7975005	7975005	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975005C>T	ENST00000397979.3	+	3	378	c.324C>T	c.(322-324)atC>atT	p.I108I	MAP2K7_ENST00000397981.3_Silent_p.I108I|MAP2K7_ENST00000545011.1_Silent_p.I108I|MAP2K7_ENST00000397983.3_Silent_p.I124I|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	108					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ACCTGACCATCGGGGGCCAGG	0.662																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(322-324)atC>atT		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						26.0	28.0	27.0					19																	7975005		1962	4155	6117	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975005C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.324C>T	19.37:g.7975005C>T						MAP2K7_ENST00000397981.3_Silent_p.I108I|MAP2K7_ENST00000397979.3_Silent_p.I108I|MAP2K7_ENST00000397983.3_Silent_p.I124I	p.I108I			O14733	MP2K7_HUMAN			3	389	+			108					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.324C>T	CCDS42491.1																																																																																				0.662	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			7	13	0	0	0	1	0	7	13				
ZNRF3	84133	broad.mit.edu	37	22	29439334	29439334	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29439334G>A	ENST00000544604.2	+	4	724	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ZNRF3_ENST00000406323.3_Silent_p.V83V|ZNRF3_ENST00000402174.1_Silent_p.V83V|ZNRF3_ENST00000332811.4_Silent_p.V83V	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	183					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGGTGTATGTGAAGGGTGCAG	0.542																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(547-549)gtG>gtA		zinc and ring finger 3							82.0	87.0	85.0					22																	29439334		1999	4172	6171	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29439334G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.549G>A	22.37:g.29439334G>A						ZNRF3_ENST00000406323.3_Silent_p.V83V|ZNRF3_ENST00000402174.1_Silent_p.V83V|ZNRF3_ENST00000332811.4_Silent_p.V83V	p.V183V	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			4	724	+			183					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.549G>A	CCDS56225.1																																																																																				0.542	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		16	81	0	0	0	1	0	16	81				
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TACCAGGCCTGAGACGCCATT	0.637																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1255-1257)tCa>tGa		EPH receptor A2	Dasatinib(DB01254)						54.0	55.0	55.0					1																	16464404		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464404G>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1256C>G	1.37:g.16464404G>C	ENSP00000351209:p.Ser419*						p.S419*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1410	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	419			Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1256C>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427317	0.97559	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.97	0.65823	.	0.139643	0.32703	N	0.005759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000351209:S419X	S	-	2	0	EPHA2	16336991	1.000000	0.71417	0.996000	0.52242	0.536000	0.34869	9.869000	0.99810	2.488000	0.83962	0.561000	0.74099	TCA		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		9	76	0	0	0	1	0	9	76				
SLC17A5	26503	broad.mit.edu	37	6	74325154	74325154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:74325154G>A	ENST00000355773.5	-	8	1263	c.995C>T	c.(994-996)tCa>tTa	p.S332L	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	332					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAGGCAATGAAGATAAAAA	0.368																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(994-996)tCa>tTa		solute carrier family 17 (acidic sugar transporter), member 5							83.0	77.0	79.0					6																	74325154		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325154G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.995C>T	6.37:g.74325154G>A	ENSP00000348019:p.Ser332Leu					SLC17A5_ENST00000393019.3_3'UTR	p.S332L	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1263	-			332					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.995C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506514	0.64410	.	.	ENSG00000119899	ENST00000355773	T	0.58940	0.3	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056731	0.64402	D	0.000001	T	0.45518	0.1346	L	0.41961	1.31	0.80722	D	1	B;B	0.30727	0.292;0.064	B;B	0.36766	0.232;0.122	T	0.55842	-0.8077	10	0.87932	D	0	.	17.9228	0.88972	0.0:0.0:1.0:0.0	.	394;332	E1P537;Q9NRA2	.;S17A5_HUMAN	L	332	ENSP00000348019:S332L	ENSP00000348019:S332L	S	-	2	0	SLC17A5	74381875	1.000000	0.71417	0.996000	0.52242	0.258000	0.26162	8.678000	0.91211	2.221000	0.72209	0.561000	0.74099	TCA		0.368	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			10	36	0	0	0	1	0	10	36				
VCAN	1462	broad.mit.edu	37	5	82816809	82816809	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:82816809C>T	ENST00000265077.3	+	7	3249	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S895L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S847L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	895	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCAGAAAAGTCAACTTTGAGA	0.403																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2683-2685)tCa>tTa		versican							99.0	102.0	101.0					5																	82816809		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816809C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2684C>T	5.37:g.82816809C>T	ENSP00000265077:p.Ser895Leu					VCAN_ENST00000342785.4_Missense_Mutation_p.S895L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S847L|VCAN_ENST00000343200.5_Intron	p.S895L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3249	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	895			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2684C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718857	0.68844	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.21543	2.0;2.0;2.0	5.8	5.8	0.92144	.	0.409326	0.21086	N	0.080405	T	0.34337	0.0894	L	0.56769	1.78	0.35307	D	0.783505	P;P	0.49783	0.928;0.799	P;B	0.49922	0.626;0.343	T	0.41233	-0.9520	10	0.72032	D	0.01	.	16.7823	0.85566	0.0:1.0:0.0:0.0	.	895;895	P13611-3;P13611	.;CSPG2_HUMAN	L	895;895;847	ENSP00000265077:S895L;ENSP00000342768:S895L;ENSP00000425959:S847L	ENSP00000265077:S895L	S	+	2	0	VCAN	82852565	0.123000	0.22298	0.984000	0.44739	0.911000	0.54048	2.108000	0.41854	2.735000	0.93741	0.655000	0.94253	TCA		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		16	117	0	0	0	1	0	16	117				
TSHZ1	10194	broad.mit.edu	37	18	72999678	72999678	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72999678G>A	ENST00000580243.1	+	2	2664	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	TSHZ1_ENST00000322038.5_Silent_p.A727A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	772					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGGCGATGCTGTACA	0.582																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2179-2181)gcG>gcA		teashirt zinc finger homeobox 1							52.0	50.0	51.0					18																	72999678		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999678G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2316G>A	18.37:g.72999678G>A						TSHZ1_ENST00000580243.1_Silent_p.A772A	p.A727A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2765	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	772					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2181G>A																																																																																					0.582	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		13	35	0	0	0	1	0	13	35				
CLEC14A	161198	broad.mit.edu	37	14	38724042	38724042	+	Missense_Mutation	SNP	A	A	C	rs530380827	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:38724042A>C	ENST00000342213.2	-	1	1532	c.1186T>G	c.(1186-1188)Tct>Gct	p.S396A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	396						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACCACGGCAGAGGAGGAGTCG	0.507																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1186-1188)Tct>Gct		C-type lectin domain family 14, member A							52.0	49.0	50.0					14																	38724042		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724042A>C		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1186T>G	14.37:g.38724042A>C	ENSP00000353013:p.Ser396Ala						p.S396A	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1532	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		396					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1186T>G	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319107	0.23994	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74842	-0.88	4.27	3.08	0.35506	.	0.877410	0.09484	N	0.795885	T	0.64983	0.2648	L	0.34521	1.04	0.27380	N	0.955449	P	0.50943	0.94	B	0.43103	0.408	T	0.56032	-0.8046	10	0.72032	D	0.01	-21.1114	7.3287	0.26569	0.804:0.0:0.0:0.196	.	396	Q86T13	CLC14_HUMAN	A	396;161	ENSP00000353013:S396A	ENSP00000353013:S396A	S	-	1	0	CLEC14A	37793793	0.994000	0.37717	0.956000	0.39512	0.080000	0.17528	2.212000	0.42835	0.718000	0.32166	0.460000	0.39030	TCT		0.507	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		7	32	0	0	0	1	0	7	32				
VPS36	51028	broad.mit.edu	37	13	53001179	53001179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:53001179G>C	ENST00000378060.4	-	8	611	c.584C>G	c.(583-585)tCa>tGa	p.S195*		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	195					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AATTGATTTTGATAATTCCAC	0.299																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(583-585)tCa>tGa		vacuolar protein sorting 36 homolog (S. cerevisiae)							141.0	132.0	135.0					13																	53001179		2202	4299	6501	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53001179G>C	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.584C>G	13.37:g.53001179G>C	ENSP00000367299:p.Ser195*						p.S195*	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	8	611	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	195					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.584C>G	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	36	5.630579	0.96682	.	.	ENSG00000136100	ENST00000378060	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.6826	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000367299:S195X	S	-	2	0	VPS36	51899180	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.397000	0.97276	2.937000	0.99478	0.650000	0.86243	TCA		0.299	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			8	25	0	0	0	1	0	8	25				
YY2	404281	broad.mit.edu	37	X	21874967	21874967	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:21874967C>G	ENST00000429584.2	+	1	863	c.365C>G	c.(364-366)tCt>tGt	p.S122C	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACCCTGGCCTCTCTGTCGGCC	0.587																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(364-366)tCt>tGt		YY2 transcription factor							58.0	50.0	53.0					X																	21874967		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21874967C>G	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.365C>G	X.37:g.21874967C>G	ENSP00000389381:p.Ser122Cys					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	p.S122C	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	863	+			122					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.365C>G	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711480	0.48517	.	.	ENSG00000230797	ENST00000429584	T	0.10860	2.83	3.99	2.17	0.27698	.	0.454838	0.20929	U	0.083138	T	0.10465	0.0256	L	0.48642	1.525	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.18999	-1.0319	10	0.42905	T	0.14	.	11.3483	0.49573	0.0:0.6579:0.342:0.0	.	122	O15391	TYY2_HUMAN	C	122	ENSP00000389381:S122C	ENSP00000389381:S122C	S	+	2	0	YY2	21784888	0.410000	0.25376	0.000000	0.03702	0.014000	0.08584	3.450000	0.52957	0.451000	0.26802	0.600000	0.82982	TCT		0.587	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		16	27	0	0	0	1	0	16	27				
CENPT	80152	broad.mit.edu	37	16	67860627	67860627	+	IGR	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67860627C>T	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Silent_p.F424F|TSNAXIP1_ENST00000561639.1_Silent_p.F478F|TSNAXIP1_ENST00000415766.3_Silent_p.F409F	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCTTCAATTTCCTGGAGCATC	0.483																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(1270-1272)ttC>ttT		translin-associated factor X interacting protein 1							100.0	107.0	104.0					16																	67860627		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67860627C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67860627C>T						TSNAXIP1_ENST00000415766.3_Silent_p.F409F|TSNAXIP1_ENST00000561639.1_Silent_p.F478F	p.F424F	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	12	1649	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	424					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1272C>T	CCDS42182.1																																																																																				0.483	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		35	112	0	0	0	1	0	35	112				
HAUS6	54801	broad.mit.edu	37	9	19060161	19060161	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:19060161C>G	ENST00000380502.3	-	15	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	564					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTAGTTCCTCTAATTTTATT	0.368																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1690-1692)Gag>Cag		HAUS augmin-like complex, subunit 6							45.0	42.0	43.0					9																	19060161		2203	4297	6500	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19060161C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1690G>C	9.37:g.19060161C>G	ENSP00000369871:p.Glu564Gln					HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	p.E564Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			15	2157	-			564					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1690G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734678	0.48939	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.50277	1.75;1.78;0.75	5.78	3.82	0.43975	.	0.353223	0.35615	N	0.003089	T	0.62405	0.2425	M	0.70595	2.14	0.28229	N	0.926173	D;D;P;P	0.71674	0.998;0.998;0.607;0.599	P;P;B;B	0.59703	0.862;0.862;0.223;0.28	T	0.60141	-0.7321	10	0.37606	T	0.19	-8.4463	15.2398	0.73461	0.0:0.7343:0.2657:0.0	.	529;564;428;564	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	Q	564;428;80	ENSP00000369871:E564Q;ENSP00000369865:E428Q;ENSP00000409615:E80Q	ENSP00000369865:E428Q	E	-	1	0	HAUS6	19050161	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.355000	0.52262	1.437000	0.47472	0.591000	0.81541	GAG		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	6	0	0	0	1	0	4	6				
TLE1	7088	broad.mit.edu	37	9	84230975	84230975	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:84230975C>T	ENST00000376499.3	-	11	1904	c.840G>A	c.(838-840)aaG>aaA	p.K280K	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_5'Flank|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	280	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AAGCATCCTTCTTTAGCAGGC	0.483																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(838-840)aaG>aaA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							121.0	119.0	120.0					9																	84230975		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84230975C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.840G>A	9.37:g.84230975C>T						TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	p.K280K	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			11	1904	-			280			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.840G>A	CCDS6661.1																																																																																				0.483	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		23	119	0	0	0	1	0	23	119				
LATS1	9113	broad.mit.edu	37	6	150005093	150005093	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150005093G>A	ENST00000543571.1	-	4	1679	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.L378L	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGCTGTCAGAGGATATGGA	0.468																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(1132-1134)Ctg>Ttg		large tumor suppressor kinase 1							67.0	66.0	66.0					6																	150005093		2203	4300	6503	SO:0001819	synonymous_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005093G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1132C>T	6.37:g.150005093G>A						LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000392273.3_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR	p.L378L	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1679	-		Ovarian(120;0.0164)	378						Silent	SNP	ENST00000543571.1	37	c.1132C>T	CCDS34551.1																																																																																				0.468	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		16	54	0	0	0	1	0	16	54				
TBCD	6904	broad.mit.edu	37	17	80726331	80726331	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80726331C>T	ENST00000355528.4	+	5	601	c.471C>T	c.(469-471)ctC>ctT	p.L157L	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.L157L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	157					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCTCTGGCTCTCCGTGACCT	0.502																																						ENST00000355528.4																			0											c.(469-471)ctC>ctT		tubulin folding cofactor D							241.0	250.0	248.0					17																	80726331		1977	4147	6124	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726331C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.471C>T	17.37:g.80726331C>T						TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.L157L	p.L157L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	601	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	157					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.471C>T	CCDS45818.1																																																																																				0.502	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		56	245	0	0	0	1	0	56	245				
PRKCE	5581	broad.mit.edu	37	2	46372238	46372238	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:46372238G>C	ENST00000306156.3	+	12	1926	c.1599G>C	c.(1597-1599)ttG>ttC	p.L533F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	533	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GCAGGGATTTGAAACTGGACA	0.488																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1597-1599)ttG>ttC		protein kinase C, epsilon							174.0	167.0	169.0					2																	46372238		2031	4035	6066	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46372238G>C		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1599G>C	2.37:g.46372238G>C	ENSP00000306124:p.Leu533Phe						p.L533F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		12	1926	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	533			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1599G>C	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548486	0.65311	.	.	ENSG00000171132	ENST00000306156	T	0.41758	0.99	4.92	4.03	0.46877	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.68339	0.2990	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73154	-0.4072	10	0.87932	D	0	.	8.2042	0.31443	0.0803:0.0:0.7636:0.156	.	533	Q02156	KPCE_HUMAN	F	533	ENSP00000306124:L533F	ENSP00000306124:L533F	L	+	3	2	PRKCE	46225742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.475000	0.53136	1.414000	0.47017	0.650000	0.86243	TTG		0.488	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			24	113	0	0	0	1	0	24	113				
CHST14	113189	broad.mit.edu	37	15	40763941	40763941	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40763941G>A	ENST00000306243.5	+	1	782	c.529G>A	c.(529-531)Gac>Aac	p.D177N	CHST14_ENST00000559991.1_Missense_Mutation_p.D152N	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	177					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACAGCGTGGACGTCCGCCT	0.602																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(529-531)Gac>Aac		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							58.0	49.0	52.0					15																	40763941		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40763941G>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.529G>A	15.37:g.40763941G>A	ENSP00000307297:p.Asp177Asn					CHST14_ENST00000559991.1_Missense_Mutation_p.D152N	p.D177N	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	782	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	177					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.529G>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841236	0.71488	.	.	ENSG00000169105	ENST00000306243	T	0.73363	-0.74	4.98	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	L	0.51422	1.61	0.54753	D	0.999986	P	0.44429	0.835	P	0.46685	0.524	T	0.71619	-0.4538	10	0.35671	T	0.21	-25.2502	13.1098	0.59267	0.0:0.1623:0.8377:0.0	.	177	Q8NCH0	CHSTE_HUMAN	N	177	ENSP00000307297:D177N	ENSP00000307297:D177N	D	+	1	0	CHST14	38551233	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.493000	0.60341	1.322000	0.45245	-0.175000	0.13238	GAC		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		16	71	0	0	0	1	0	16	71				
PKHD1	5314	broad.mit.edu	37	6	51613356	51613356	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:51613356G>A	ENST00000371117.3	-	58	9333	c.9058C>T	c.(9058-9060)Ctg>Ttg	p.L3020L	PKHD1_ENST00000340994.4_Silent_p.L3020L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3020					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTGGTGCAGAGTAGATGAT	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9058-9060)Ctg>Ttg		polycystic kidney and hepatic disease 1 (autosomal recessive)							58.0	59.0	59.0					6																	51613356		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613356G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9058C>T	6.37:g.51613356G>A						PKHD1_ENST00000340994.4_Silent_p.L3020L	p.L3020L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9333	-	Lung NSC(77;0.0605)		3020					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.9058C>T	CCDS4935.1																																																																																				0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	48	0	0	0	1	0	16	48				
PCNX	22990	broad.mit.edu	37	14	71443670	71443670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:71443670G>C	ENST00000304743.2	+	6	1062	c.616G>C	c.(616-618)Gat>Cat	p.D206H	PCNX_ENST00000238570.5_Missense_Mutation_p.D206H|PCNX_ENST00000439984.3_Missense_Mutation_p.D206H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	206						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTGGCAGCTGATCGGAAGCT	0.388																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(616-618)Gat>Cat		pecanex homolog (Drosophila)							76.0	72.0	74.0					14																	71443670		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71443670G>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.616G>C	14.37:g.71443670G>C	ENSP00000304192:p.Asp206His					PCNX_ENST00000238570.5_Missense_Mutation_p.D206H|PCNX_ENST00000439984.3_Missense_Mutation_p.D206H	p.D206H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1062	+			206					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.616G>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877748	0.51801	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.43688	0.94;0.94;0.94	5.64	5.64	0.86602	.	0.112941	0.64402	D	0.000017	T	0.53738	0.1815	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.54951	-0.8216	10	0.56958	D	0.05	.	17.8699	0.88808	0.0:0.0:1.0:0.0	.	206;206;206	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	H	206	ENSP00000304192:D206H;ENSP00000238570:D206H;ENSP00000396617:D206H	ENSP00000238570:D206H	D	+	1	0	PCNX	70513423	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.066000	0.93949	2.659000	0.90383	0.655000	0.94253	GAT		0.388	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	62	0	0	0	1	0	5	62				
SSRP1	6749	broad.mit.edu	37	11	57095837	57095837	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57095837C>T	ENST00000278412.2	-	13	1811	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	515	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTTTCCGCTTCTTCTCATCCC	0.567																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1543-1545)aaG>aaA		structure specific recognition protein 1							154.0	135.0	141.0					11																	57095837		2201	4296	6497	SO:0001819	synonymous_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57095837C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1545G>A	11.37:g.57095837C>T							p.K515K	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			13	1811	-			515			Arg/Lys-rich (basic).		Q5BJG8	Silent	SNP	ENST00000278412.2	37	c.1545G>A	CCDS7952.1																																																																																				0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		28	88	0	0	0	1	0	28	88				
GKAP1	80318	broad.mit.edu	37	9	86356884	86356884	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86356884C>G	ENST00000376371.2	-	12	1436	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.E295Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	346					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTGGCTAACTCTGCTTGTAAT	0.294																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(1036-1038)Gag>Cag		G kinase anchoring protein 1							55.0	51.0	53.0					9																	86356884		2202	4296	6498	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86356884C>G	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.1036G>C	9.37:g.86356884C>G	ENSP00000365550:p.Glu346Gln					GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.E295Q	p.E346Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			12	1436	-			346					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.1036G>C	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376587	0.82682	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.74	5.74	0.90152	.	0.044412	0.85682	D	0.000000	D	0.83193	0.5201	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84283	0.0495	9	0.72032	D	0.01	-24.2273	19.5124	0.95148	0.0:1.0:0.0:0.0	.	295;346	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	Q	346;295	.	ENSP00000365544:E295Q	E	-	1	0	GKAP1	85546704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.120000	0.71596	2.707000	0.92482	0.563000	0.77884	GAG		0.294	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		3	13	0	0	0	1	0	3	13				
KRT33A	3883	broad.mit.edu	37	17	39506982	39506982	+	Missense_Mutation	SNP	C	C	T	rs143698304	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39506982C>T	ENST00000007735.3	-	1	82	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	13	Head.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R13H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.642													C|||	9	0.00179712	0.0061	0.0014	5008	,	,		13000	0.0		0.0	False		,,,				2504	0.0					ENST00000007735.3																			1	Substitution - Missense(1)	p.R13H(1)	endometrium(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(37-39)cGc>cAc		keratin 33A		C	HIS/ARG	16,4368		0,16,2176	17.0	21.0	19.0		38	3.1	1.0	17	dbSNP_134	19	1,8587		0,1,4293	yes	missense	KRT33A	NM_004138.2	29	0,17,6469	TT,TC,CC		0.0116,0.365,0.1311	probably-damaging	13/405	39506982	17,12955	2192	4294	6486	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506982C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.38G>A	17.37:g.39506982C>T	ENSP00000007735:p.Arg13His						p.R13H	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	82	-		Breast(137;0.000496)	13			Head.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.38G>A	CCDS11388.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	C	17.43	3.386706	0.61956	0.00365	1.16E-4	ENSG00000006059	ENST00000007735	D	0.82984	-1.67	5.09	3.12	0.35913	.	0.093924	0.47852	N	0.000209	T	0.64382	0.2593	M	0.70842	2.15	0.33853	D	0.632887	B	0.33904	0.431	B	0.22601	0.04	T	0.76761	-0.2840	10	0.51188	T	0.08	.	9.0157	0.36168	0.0:0.8283:0.0:0.1717	.	13	O76009	KT33A_HUMAN	H	13	ENSP00000007735:R13H	ENSP00000007735:R13H	R	-	2	0	KRT33A	36760508	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.367000	0.44213	0.863000	0.35553	-0.259000	0.10710	CGC		0.642	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		11	47	0	0	0	1	0	11	47				
SLC46A2	57864	broad.mit.edu	37	9	115648826	115648826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115648826C>A	ENST00000374228.4	-	3	1515	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	428					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCTGGTAGATCTTGTTGTACA	0.527																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(1282-1284)aaG>aaT		solute carrier family 46, member 2							221.0	173.0	189.0					9																	115648826		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115648826C>A	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1284G>T	9.37:g.115648826C>A	ENSP00000363345:p.Lys428Asn						p.K428N	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			3	1515	-			428					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.1284G>T	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501375	0.26861	.	.	ENSG00000119457	ENST00000374228	T	0.80824	-1.42	5.79	1.74	0.24563	Major facilitator superfamily domain, general substrate transporter (1);	0.890365	0.10108	N	0.715073	T	0.67306	0.2879	L	0.35723	1.085	0.50813	D	0.999895	B	0.14012	0.009	B	0.14023	0.01	T	0.55062	-0.8199	10	0.22109	T	0.4	-0.5753	3.6247	0.08109	0.1261:0.4972:0.245:0.1318	.	428	Q9BY10	TSCOT_HUMAN	N	428	ENSP00000363345:K428N	ENSP00000363345:K428N	K	-	3	2	SLC46A2	114688647	0.995000	0.38212	0.982000	0.44146	0.856000	0.48823	0.439000	0.21575	0.336000	0.23639	0.551000	0.68910	AAG		0.527	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		25	144	1	0	4.87955e-14	1	5.14942e-14	25	144				
NLN	57486	broad.mit.edu	37	5	65073341	65073341	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:65073341C>G	ENST00000380985.5	+	4	716	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	NLN_ENST00000502464.1_Missense_Mutation_p.L76V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	180						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGGGCTCCATCTTCCTGAACA	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(538-540)Ctt>Gtt		neurolysin (metallopeptidase M3 family)							97.0	101.0	100.0					5																	65073341		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65073341C>G	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.538C>G	5.37:g.65073341C>G	ENSP00000370372:p.Leu180Val					NLN_ENST00000502464.1_Missense_Mutation_p.L76V	p.L180V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	4	716	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	180					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.538C>G	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215161	0.58452	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.17691	2.26;2.26	5.38	5.38	0.77491	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.137277	0.49916	D	0.000130	T	0.33030	0.0849	M	0.86502	2.82	0.80722	D	1	B;B	0.27971	0.196;0.008	B;B	0.30646	0.118;0.003	T	0.29119	-1.0022	10	0.87932	D	0	-16.315	19.5285	0.95215	0.0:1.0:0.0:0.0	.	180;180	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	V	180;76;180	ENSP00000370372:L180V;ENSP00000423214:L76V	ENSP00000339283:L180V	L	+	1	0	NLN	65109097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.927000	0.75840	2.680000	0.91292	0.557000	0.71058	CTT		0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			16	63	0	0	0	1	0	16	63				
ALMS1	7840	broad.mit.edu	37	2	73651783	73651783	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:73651783G>C	ENST00000264448.6	+	5	1101	c.990G>C	c.(988-990)ctG>ctC	p.L330L	ALMS1_ENST00000409009.1_Silent_p.L288L|ALMS1_ENST00000377715.1_Silent_p.L330L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	330					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGATGAACTGAAAATTCCCA	0.403																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(988-990)ctG>ctC		Alstrom syndrome 1							91.0	83.0	86.0					2																	73651783		1877	4117	5994	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651783G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.990G>C	2.37:g.73651783G>C						ALMS1_ENST00000377715.1_Silent_p.L330L|ALMS1_ENST00000409009.1_Silent_p.L288L	p.L330L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			5	1101	+			330					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.990G>C	CCDS42697.1																																																																																				0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	34	0	0	0	1	0	5	34				
SLC26A4	5172	broad.mit.edu	37	7	107314639	107314639	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:107314639G>C	ENST00000265715.3	+	5	670	c.446G>C	c.(445-447)gGa>gCa	p.G149A		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	149					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAATGGTGGGATCTGTTGTT	0.408									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(445-447)gGa>gCa		solute carrier family 26 (anion exchanger), member 4							166.0	157.0	160.0					7																	107314639		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314639G>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.446G>C	7.37:g.107314639G>C	ENSP00000265715:p.Gly149Ala						p.G149A	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			5	670	+			149					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.446G>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974416	0.92919	.	.	ENSG00000091137	ENST00000265715	D	0.90844	-2.74	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.93566	0.7946	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93123	0.6526	10	0.45353	T	0.12	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	149	O43511	S26A4_HUMAN	A	149	ENSP00000265715:G149A	ENSP00000265715:G149A	G	+	2	0	SLC26A4	107101875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.313000	0.96297	2.551000	0.86045	0.655000	0.94253	GGA		0.408	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		21	79	0	0	0	1	0	21	79				
AKAP3	10566	broad.mit.edu	37	12	4737714	4737714	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:4737714C>T	ENST00000545990.2	-	5	878	c.354G>A	c.(352-354)ggG>ggA	p.G118G	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Silent_p.G118G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	118			G -> E (in dbSNP:rs2072355). {ECO:0000269|PubMed:10334916, ECO:0000269|PubMed:10529264, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTACTGAACTCCCGTTGCCAA	0.488																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(352-354)ggG>ggA		A kinase (PRKA) anchor protein 3							114.0	105.0	108.0					12																	4737714		2203	4300	6503	SO:0001819	synonymous_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737714C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.354G>A	12.37:g.4737714C>T						AKAP3_ENST00000228850.1_Silent_p.G118G	p.G118G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	878	-			118		G -> E (in dbSNP:rs2072355).			O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	c.354G>A	CCDS8531.1																																																																																				0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		18	70	0	0	0	1	0	18	70				
EIF2B1	1967	broad.mit.edu	37	12	124106419	124106419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:124106419C>G	ENST00000424014.2	-	9	1010	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	268					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGATGCTCCTCTTTGAGGTCT	0.517																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(802-804)Gag>Cag		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							165.0	104.0	125.0					12																	124106419		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106419C>G	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.802G>C	12.37:g.124106419C>G	ENSP00000416250:p.Glu268Gln					EIF2B1_ENST00000539951.1_3'UTR	p.E268Q	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1010	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		268					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.802G>C	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817728	0.50633	.	.	ENSG00000111361	ENST00000424014;ENST00000228958	D;D	0.92348	-3.02;-3.02	6.16	6.16	0.99307	.	0.044129	0.85682	D	0.000000	D	0.87317	0.6147	L	0.38175	1.15	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.81143	-0.1067	10	0.17369	T	0.5	-41.2397	14.9398	0.70983	0.0:0.9325:0.0:0.0675	.	268	Q14232	EI2BA_HUMAN	Q	268;266	ENSP00000416250:E268Q;ENSP00000228958:E266Q	ENSP00000228958:E266Q	E	-	1	0	EIF2B1	122672372	0.998000	0.40836	0.974000	0.42286	0.983000	0.72400	3.803000	0.55560	2.937000	0.99478	0.650000	0.86243	GAG		0.517	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		7	21	0	0	0	1	0	7	21				
ROBO4	54538	broad.mit.edu	37	11	124765072	124765072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:124765072G>A	ENST00000306534.3	-	7	1539	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	ROBO4_ENST00000533054.1_Nonsense_Mutation_p.Q207*|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	352	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCACTTCCTGAGGTGGGGCA	0.587																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1054-1056)Cag>Tag		roundabout, axon guidance receptor, homolog 4 (Drosophila)							82.0	70.0	74.0					11																	124765072		2201	4299	6500	SO:0001587	stop_gained	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765072G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1054C>T	11.37:g.124765072G>A	ENSP00000304945:p.Gln352*					ROBO4_ENST00000533054.1_Nonsense_Mutation_p.Q207*	p.Q352*	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	7	1539	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	352			Fibronectin type-III 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Nonsense_Mutation	SNP	ENST00000306534.3	37	c.1054C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	42	9.586759	0.99213	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	.	.	.	5.35	3.35	0.38373	.	0.467913	0.16050	N	0.232034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.7795	0.57469	0.0:0.3145:0.6855:0.0	.	.	.	.	X	352;242;207	.	ENSP00000304945:Q352X	Q	-	1	0	ROBO4	124270282	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.240000	0.58701	1.242000	0.43836	0.563000	0.77884	CAG		0.587	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		9	45	0	0	0	1	0	9	45				
NCAPD3	23310	broad.mit.edu	37	11	134074826	134074826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:134074826C>T	ENST00000534548.2	-	9	1121	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	353					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGATACGGACGACTGGGAAT	0.398																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1057-1059)Gtc>Atc		non-SMC condensin II complex, subunit D3							144.0	143.0	143.0					11																	134074826		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134074826C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1057G>A	11.37:g.134074826C>T	ENSP00000433681:p.Val353Ile						p.V353I	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	9	1121	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	353					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1057G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958507	0.18507	.	.	ENSG00000151503	ENST00000534548	T	0.04654	3.58	5.54	4.63	0.57726	Armadillo-type fold (1);	0.062175	0.64402	D	0.000003	T	0.02929	0.0087	N	0.08118	0	0.80722	D	1	B	0.19445	0.036	B	0.06405	0.002	T	0.52305	-0.8593	10	0.33940	T	0.23	-14.2826	10.7852	0.46401	0.0712:0.134:0.7948:0.0	.	353	P42695	CNDD3_HUMAN	I	353	ENSP00000433681:V353I	ENSP00000431612:V353I	V	-	1	0	NCAPD3	133580036	1.000000	0.71417	0.851000	0.33527	0.145000	0.21501	3.481000	0.53179	1.347000	0.45714	-0.234000	0.12200	GTC		0.398	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		13	74	0	0	0	1	0	13	74				
LOH12CR1	118426	broad.mit.edu	37	12	12514212	12514212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514212C>T	ENST00000314565.4	+	2	462	c.131C>T	c.(130-132)tCa>tTa	p.S44L	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.S25L|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	44										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TCCCAGGCCTCACGGAACGTC	0.463																																						ENST00000314565.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(130-132)tCa>tTa		loss of heterozygosity, 12, chromosomal region 1							188.0	170.0	176.0					12																	12514212		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514212C>T	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.131C>T	12.37:g.12514212C>T	ENSP00000321546:p.Ser44Leu					LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.S25L	p.S44L	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	462	+		Prostate(47;0.0802)	44					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.131C>T	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	c	11.96	1.794978	0.31777	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.31769	1.48;1.48	6.01	6.01	0.97437	.	0.226296	0.40144	N	0.001177	T	0.14743	0.0356	N	0.05199	-0.095	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.08837	T	0.75	-25.554	13.3628	0.60665	0.0:0.9278:0.0:0.0722	.	44	Q969J3	L12R1_HUMAN	L	25;44	ENSP00000443023:S25L;ENSP00000321546:S44L	ENSP00000321546:S44L	S	+	2	0	LOH12CR1	12405479	0.786000	0.28738	0.987000	0.45799	0.997000	0.91878	3.747000	0.55134	2.861000	0.98227	0.651000	0.88453	TCA		0.463	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			30	75	0	0	0	1	0	30	75				
DLX6	1750	broad.mit.edu	37	7	96639321	96639321	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:96639321C>G	ENST00000518156.2	+	3	1274	c.844C>G	c.(844-846)Cca>Gca	p.P282A	DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.P254A|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.P154A|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	164					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTACTCCTCTCCACACCAGGA	0.572																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(844-846)Cca>Gca		distal-less homeobox 6							25.0	26.0	26.0					7																	96639321		2151	4278	6429	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639321C>G		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.844C>G	7.37:g.96639321C>G	ENSP00000428480:p.Pro282Ala					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.P154A|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.P254A|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA	p.P282A			P56179	DLX6_HUMAN			3	1274	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		164					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.844C>G	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678078	0.29783	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.91295	-2.8;-2.76;-2.82	5.76	5.76	0.90799	.	1.356490	0.04233	N	0.335538	D	0.85256	0.5655	N	0.11870	0.19	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.56019	-0.8048	10	0.07030	T	0.85	-6.5891	19.9738	0.97296	0.0:1.0:0.0:0.0	.	254	P56179-2	.	A	282;254;154	ENSP00000428480:P282A;ENSP00000007660:P254A;ENSP00000451635:P154A	ENSP00000007660:P254A	P	+	1	0	DLX6	96477257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.732000	0.93576	0.655000	0.94253	CCA		0.572	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	16	0	0	0	1	0	3	16				
PMFBP1	83449	broad.mit.edu	37	16	72184546	72184546	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72184546C>T	ENST00000237353.10	-	5	858	c.597G>A	c.(595-597)gtG>gtA	p.V199V	PMFBP1_ENST00000537465.1_Silent_p.V199V|PMFBP1_ENST00000355636.6_Silent_p.V54V	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	199						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAACATCTTCACTTGGCATT	0.532																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(595-597)gtG>gtA		polyamine modulated factor 1 binding protein 1							183.0	170.0	174.0					16																	72184546		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72184546C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.597G>A	16.37:g.72184546C>T						PMFBP1_ENST00000237353.10_Silent_p.V199V|PMFBP1_ENST00000355636.6_Silent_p.V54V	p.V199V			Q8TBY8	PMFBP_HUMAN			5	755	-		Ovarian(137;0.179)	199					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.597G>A	CCDS32483.1																																																																																				0.532	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		40	199	0	0	0	1	0	40	199				
CCDC81	60494	broad.mit.edu	37	11	86118709	86118709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86118709C>G	ENST00000445632.2	+	8	1207	c.935C>G	c.(934-936)tCt>tGt	p.S312C	CCDC81_ENST00000278487.3_Missense_Mutation_p.S95C|CCDC81_ENST00000528728.1_Missense_Mutation_p.S95C|CCDC81_ENST00000354755.1_Missense_Mutation_p.S222C	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	312										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCCCAAACATCTCCAGCTTGC	0.368																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(283-285)tCt>tGt		coiled-coil domain containing 81							90.0	82.0	84.0					11																	86118709		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86118709C>G	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.935C>G	11.37:g.86118709C>G	ENSP00000415528:p.Ser312Cys					CCDC81_ENST00000445632.2_Missense_Mutation_p.S312C|CCDC81_ENST00000354755.1_Missense_Mutation_p.S222C|CCDC81_ENST00000528728.1_Missense_Mutation_p.S95C	p.S95C			Q6ZN84	CCD81_HUMAN			8	1363	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	312					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.284C>G	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447933	0.63178	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.55413	0.85;0.52;0.85;0.52	5.4	4.48	0.54585	.	0.382752	0.24776	N	0.035694	T	0.63534	0.2519	M	0.65975	2.015	0.09310	N	1	D;D;P	0.56287	0.975;0.965;0.895	P;P;P	0.56960	0.81;0.776;0.606	T	0.57112	-0.7867	9	.	.	.	-3.0818	11.431	0.50041	0.1807:0.8193:0.0:0.0	.	95;312;222	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	C	222;95;312;95	ENSP00000346800:S222C;ENSP00000278487:S95C;ENSP00000415528:S312C;ENSP00000437165:S95C	.	S	+	2	0	CCDC81	85796357	0.004000	0.15560	0.014000	0.15608	0.254000	0.26022	0.991000	0.29654	1.237000	0.43756	0.655000	0.94253	TCT		0.368	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		3	27	0	0	0	1	0	3	27				
ZSCAN10	84891	broad.mit.edu	37	16	3139625	3139625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:3139625G>A	ENST00000252463.2	-	5	1732	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R210W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R467W|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	549					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGTGGGGCCGAGGGCCACCG	0.716																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1645-1647)Cgg>Tgg		zinc finger and SCAN domain containing 10							8.0	8.0	8.0					16																	3139625		2133	4200	6333	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139625G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1645C>T	16.37:g.3139625G>A	ENSP00000252463:p.Arg549Trp					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R210W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R467W	p.R549W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1732	-			549					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1645C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139530	0.56936	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.20332	2.08	5.34	3.15	0.36227	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000165	T	0.49712	0.1573	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.971;0.993;0.991	T	0.58725	-0.7586	10	0.87932	D	0	-40.6259	11.6214	0.51119	0.0:0.0:0.5764:0.4236	.	210;482;549	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	W	482;549	ENSP00000252463:R549W	ENSP00000252463:R549W	R	-	1	2	ZSCAN10	3079626	0.000000	0.05858	0.821000	0.32701	0.949000	0.60115	-0.215000	0.09279	1.127000	0.42034	0.561000	0.74099	CGG		0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		4	7	0	0	0	1	0	4	7				
NOG	9241	broad.mit.edu	37	17	54671879	54671879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54671879G>T	ENST00000332822.4	+	1	820	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	99					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					TGGGGGCGCGGAGGACCTGGC	0.751																																						ENST00000332822.4																			0				ovary(1)	1						c.(295-297)Gag>Tag		noggin							7.0	10.0	9.0					17																	54671879		2151	4179	6330	SO:0001587	stop_gained	9241				BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity	g.chr17:54671879G>T	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.295G>T	17.37:g.54671879G>T	ENSP00000328181:p.Glu99*						p.E99*	NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN			1	820	+	Breast(9;5.24e-08)		99						Nonsense_Mutation	SNP	ENST00000332822.4	37	c.295G>T	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	39	7.754792	0.98471	.	.	ENSG00000183691	ENST00000332822	.	.	.	4.5	3.53	0.40419	.	0.189107	0.45606	D	0.000358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-10.8003	10.5166	0.44894	0.0959:0.0:0.9041:0.0	.	.	.	.	X	99	.	ENSP00000328181:E99X	E	+	1	0	NOG	52026878	1.000000	0.71417	0.991000	0.47740	0.878000	0.50629	3.718000	0.54919	1.249000	0.43950	0.563000	0.77884	GAG		0.751	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		3	11	1	0	0.115264	1	0.115884	3	11				
CYP2C18	1562	broad.mit.edu	37	10	96454828	96454828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454828G>A	ENST00000285979.6	+	4	835	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.W212*	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	212					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GCTCTCCATGGATCCAGGTGA	0.308																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(634-636)tgG>tgA		cytochrome P450, family 2, subfamily C, polypeptide 18							41.0	41.0	41.0					10																	96454828		2203	4300	6503	SO:0001587	stop_gained	1562							g.chr10:96454828G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.636G>A	10.37:g.96454828G>A	ENSP00000285979:p.Trp212*					CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.W212*|CYP2C19_ENST00000464755.1_3'UTR	p.W212*	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	4	835	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Nonsense_Mutation	SNP	ENST00000285979.6	37	c.636G>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	38	6.769257	0.97825	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.71	3.78	0.43462	.	0.800260	0.11409	U	0.567003	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8716	0.52523	0.0:0.0:0.8239:0.1761	.	.	.	.	X	212	.	ENSP00000285979:W212X	W	+	3	0	CYP2C18	96444818	0.010000	0.17322	0.004000	0.12327	0.597000	0.36814	1.616000	0.36933	0.947000	0.37659	0.282000	0.19409	TGG		0.308	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		4	33	0	0	0	1	0	4	33				
FLG	2312	broad.mit.edu	37	1	152276983	152276983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152276983G>A	ENST00000368799.1	-	3	10414	c.10379C>T	c.(10378-10380)tCa>tTa	p.S3460L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3460	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCCTGAGTGTCCAGA	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10378-10380)tCa>tTa		filaggrin							299.0	288.0	292.0					1																	152276983		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276983G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10379C>T	1.37:g.152276983G>A	ENSP00000357789:p.Ser3460Leu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3460L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10414	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3460			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10379C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084950	0.36758	.	.	ENSG00000143631	ENST00000368799	T	0.02015	4.5	3.66	0.399	0.16325	.	.	.	.	.	T	0.04452	0.0122	M	0.82517	2.595	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.20174	-1.0283	9	0.62326	D	0.03	.	6.0205	0.19626	0.1149:0.3323:0.5528:0.0	.	3460	P20930	FILA_HUMAN	L	3460	ENSP00000357789:S3460L	ENSP00000357789:S3460L	S	-	2	0	FLG	150543607	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	0.683000	0.25349	-0.150000	0.11195	0.398000	0.26397	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	534	0	0	0	1	0	10	534				
SLC32A1	140679	broad.mit.edu	37	20	37356202	37356202	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:37356202C>T	ENST00000217420.1	+	2	761	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	166					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCAAGATCCTCATCGCGTGCC	0.637																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(496-498)ctC>ctT		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						79.0	64.0	69.0					20																	37356202		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356202C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.498C>T	20.37:g.37356202C>T							p.L166L	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	761	+		Myeloproliferative disorder(115;0.00878)	166					Q8N489	Silent	SNP	ENST00000217420.1	37	c.498C>T	CCDS13307.1																																																																																				0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	95	0	0	0	1	0	5	95				
LRRC43	254050	broad.mit.edu	37	12	122685313	122685313	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:122685313G>C	ENST00000339777.4	+	10	1669	c.1641G>C	c.(1639-1641)aaG>aaC	p.K547N	B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.K362N|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	547	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCTGAAGAAGAAGAAAGAGC	0.687																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1639-1641)aaG>aaC		leucine rich repeat containing 43							33.0	43.0	40.0					12																	122685313		1931	4113	6044	SO:0001583	missense	254050							g.chr12:122685313G>C	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1641G>C	12.37:g.122685313G>C	ENSP00000344233:p.Lys547Asn					LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.K362N	p.K547N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1669	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		547			Lys-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1641G>C	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289970	0.40494	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.62232	0.04;0.52	4.89	3.98	0.46160	.	0.199066	0.40640	N	0.001047	T	0.70527	0.3234	M	0.62016	1.91	0.27514	N	0.951595	D	0.57257	0.979	P	0.59487	0.858	T	0.63488	-0.6626	10	0.45353	T	0.12	-35.4482	11.4921	0.50387	0.0869:0.0:0.9131:0.0	.	547	Q8N309	LRC43_HUMAN	N	547;418;362	ENSP00000344233:K547N;ENSP00000416628:K362N	ENSP00000289014:K418N	K	+	3	2	LRRC43	121251266	1.000000	0.71417	0.993000	0.49108	0.304000	0.27724	2.814000	0.48010	2.273000	0.75805	0.650000	0.86243	AAG		0.687	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		11	46	0	0	0	1	0	11	46				
NUMA1	4926	broad.mit.edu	37	11	71724874	71724874	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71724874G>A	ENST00000393695.3	-	15	4006	c.3675C>T	c.(3673-3675)agC>agT	p.S1225S	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.S1225S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGATGAGGCTATTTTTCC	0.602			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3673-3675)agC>agT		nuclear mitotic apparatus protein 1							72.0	74.0	73.0					11																	71724874		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724874G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3675C>T	11.37:g.71724874G>A						NUMA1_ENST00000358965.6_Silent_p.S1225S|NUMA1_ENST00000351960.6_Intron	p.S1225S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4006	-			1225						Silent	SNP	ENST00000393695.3	37	c.3675C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	4.412	0.076145	0.08485	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.14	1.23	0.21249	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34825	-0.9813	4	.	.	.	.	4.7419	0.13017	0.3049:0.0:0.5567:0.1383	.	.	.	.	V	70	.	.	A	-	2	0	NUMA1	71402522	0.997000	0.39634	0.995000	0.50966	0.806000	0.45545	0.308000	0.19314	0.069000	0.16605	-0.126000	0.14955	GCC		0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			34	105	0	0	0	1	0	34	105				
LTV1	84946	broad.mit.edu	37	6	144181686	144181686	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:144181686G>A	ENST00000367576.5	+	7	1053	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	307						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGAGAAGGCAGAGAAGTATAG	0.333																																						ENST00000367576.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(919-921)Gag>Aag		LTV1 homolog (S. cerevisiae)							144.0	152.0	149.0					6																	144181686		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144181686G>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.919G>A	6.37:g.144181686G>A	ENSP00000356548:p.Glu307Lys						p.E307K	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	7	1053	+			307					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.919G>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230961	0.39399	.	.	ENSG00000135521	ENST00000367576	.	.	.	6.02	5.05	0.67936	.	0.089451	0.85682	D	0.000000	T	0.10809	0.0264	N	0.04880	-0.145	0.51482	D	0.999929	B	0.11235	0.004	B	0.11329	0.006	T	0.34750	-0.9816	9	0.10636	T	0.68	0.0015	4.0163	0.09646	0.3085:0.0:0.6915:0.0	.	307	Q96GA3	LTV1_HUMAN	K	307	.	ENSP00000356548:E307K	E	+	1	0	LTV1	144223379	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.077000	0.76814	2.865000	0.98341	0.655000	0.94253	GAG		0.333	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		11	73	0	0	0	1	0	11	73				
RPS15A	6210	broad.mit.edu	37	16	18796110	18796110	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:18796110G>C	ENST00000565420.1	-	4	617	c.249C>G	c.(247-249)ctC>ctG	p.L83L	RPS15A_ENST00000576436.1_3'UTR|RPS15A_ENST00000322989.4_Silent_p.L83L|RPS15A_ENST00000569083.1_Silent_p.L83L|RPS15A_ENST00000563390.1_Silent_p.L83L|RPS15A_ENST00000575669.1_5'UTR			P62244	RS15A_HUMAN	ribosomal protein S15a	83					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2						CCAGGTCTTTGAGTTGCACGT	0.373																																						ENST00000322989.4																			0				endometrium(1)|large_intestine(1)	2						c.(247-249)ctC>ctG		ribosomal protein S15a							110.0	113.0	112.0					16																	18796110		2197	4300	6497	SO:0001819	synonymous_variant	6210				endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr16:18796110G>C	AB007154	CCDS10571.1	16p12.3	2011-04-05			ENSG00000134419	ENSG00000134419		"""S ribosomal proteins"""	10389	protein-coding gene	gene with protein product		603674				9582194	Standard	NM_001019		Approved	S15A	uc002dfi.1	P62244	OTTHUMG00000131365	ENST00000565420.1:c.249C>G	16.37:g.18796110G>C						RPS15A_ENST00000563390.1_Silent_p.L83L|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000565420.1_Silent_p.L83L|RPS15A_ENST00000576436.1_3'UTR|RPS15A_ENST00000569083.1_Silent_p.L83L	p.L83L	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN			4	344	-			83					P39027|P39031|Q3MHD9|Q8C023|Q9BV24	Silent	SNP	ENST00000565420.1	37	c.249C>G	CCDS10571.1																																																																																				0.373	RPS15A-005	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435778.1	NM_001019		12	149	0	0	0	1	0	12	149				
DCAF6	55827	broad.mit.edu	37	1	167962616	167962616	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167962616G>C	ENST00000312263.6	+	7	1045	c.841G>C	c.(841-843)Gac>Cac	p.D281H	DCAF6_ENST00000432587.2_Missense_Mutation_p.D250H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D281H|DCAF6_ENST00000367840.3_Missense_Mutation_p.D281H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	281					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATATCTTTTTGACCCGAAAGA	0.423																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(841-843)Gac>Cac		DDB1 and CUL4 associated factor 6							88.0	85.0	86.0					1																	167962616		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962616G>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.841G>C	1.37:g.167962616G>C	ENSP00000311949:p.Asp281His					DCAF6_ENST00000312263.6_Missense_Mutation_p.D281H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D250H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D281H	p.D281H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			7	935	+			281					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.841G>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460811	0.84317	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049448	0.85682	D	0.000000	D	0.93436	0.7906	M	0.82323	2.585	0.50171	D	0.999856	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.999	D	0.93790	0.7091	9	0.66056	D	0.02	.	18.9505	0.92640	0.0:0.0:1.0:0.0	.	250;281;281;281	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	H	281;250;281;281	ENSP00000356817:D281H;ENSP00000396238:D250H;ENSP00000311949:D281H;ENSP00000356814:D281H	ENSP00000311949:D281H	D	+	1	0	DCAF6	166229240	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.073000	0.71245	2.547000	0.85894	0.454000	0.30748	GAC		0.423	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		11	35	0	0	0	1	0	11	35				
FBXW8	26259	broad.mit.edu	37	12	117402570	117402570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117402570C>T	ENST00000309909.5	+	5	828	c.746C>T	c.(745-747)tCa>tTa	p.S249L	FBXW8_ENST00000455858.2_Missense_Mutation_p.S183L			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	249					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TTCCTGGAATCAGAGGACGAG	0.512																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(547-549)tCa>tTa		F-box and WD repeat domain containing 8							187.0	167.0	174.0					12																	117402570		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117402570C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.746C>T	12.37:g.117402570C>T	ENSP00000310686:p.Ser249Leu					FBXW8_ENST00000309909.5_Missense_Mutation_p.S249L	p.S183L	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	5	621	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		249					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.548C>T	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294469	0.40594	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.07908	3.15;3.16	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.420664	0.25503	N	0.030232	T	0.10852	0.0265	L	0.50333	1.59	0.37241	D	0.906132	B;B	0.28933	0.009;0.228	B;B	0.25140	0.003;0.058	T	0.18147	-1.0346	10	0.23891	T	0.37	-6.222	19.1688	0.93569	0.0:1.0:0.0:0.0	.	249;183	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	L	249;183;183	ENSP00000310686:S249L;ENSP00000389144:S183L	ENSP00000310686:S249L	S	+	2	0	FBXW8	115886953	0.973000	0.33851	0.221000	0.23827	0.863000	0.49368	3.871000	0.56077	2.838000	0.97847	0.561000	0.74099	TCA		0.512	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		30	136	0	0	0	1	0	30	136				
TUBGCP3	10426	broad.mit.edu	37	13	113213691	113213691	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:113213691G>C	ENST00000261965.3	-	4	461	c.275C>G	c.(274-276)tCa>tGa	p.S92*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.S92*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	92					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTAGAGTATTGACCATTTATT	0.438																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(274-276)tCa>tGa		tubulin, gamma complex associated protein 3							67.0	63.0	64.0					13																	113213691		2203	4300	6503	SO:0001587	stop_gained	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113213691G>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.275C>G	13.37:g.113213691G>C	ENSP00000261965:p.Ser92*					TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.S92*	p.S92*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			4	461	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		92					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	ENST00000261965.3	37	c.275C>G	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588438	0.97688	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	5.47	5.47	0.80525	.	0.059473	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-21.2032	19.4137	0.94687	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000261965:S92X	S	-	2	0	TUBGCP3	112261692	1.000000	0.71417	0.978000	0.43139	0.940000	0.58332	8.337000	0.90036	2.581000	0.87130	0.638000	0.83543	TCA		0.438	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		6	44	0	0	0	1	0	6	44				
CDKL5	6792	broad.mit.edu	37	X	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:18622107C>T	ENST00000379989.3	+	13	1348	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R355W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGCCTGCCCCGGGCTGACGA	0.493																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1063-1065)Cgg>Tgg		cyclin-dependent kinase-like 5							138.0	142.0	141.0					X																	18622107		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622107C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1063C>T	X.37:g.18622107C>T	ENSP00000369325:p.Arg355Trp					CDKL5_ENST00000379996.3_Missense_Mutation_p.R355W|CDKL5_ENST00000463994.1_3'UTR	p.R355W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1348	+	Hepatocellular(33;0.183)		355					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1063C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062162	0.55432	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72505	-0.66;-0.66	5.88	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.34521	1.04	0.41399	D	0.987666	D	0.89917	1.0	D	0.87578	0.998	T	0.77872	-0.2426	10	0.87932	D	0	-16.5214	13.7426	0.62857	0.4939:0.5061:0.0:0.0	.	355	O76039	CDKL5_HUMAN	W	355	ENSP00000369332:R355W;ENSP00000369325:R355W	ENSP00000369325:R355W	R	+	1	2	CDKL5	18532028	0.912000	0.30974	0.993000	0.49108	0.963000	0.63663	1.862000	0.39448	0.570000	0.29347	-0.237000	0.12165	CGG		0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		58	100	0	0	0	1	0	58	100				
VWA8	23078	broad.mit.edu	37	13	42245279	42245279	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:42245279C>G	ENST00000379310.3	-	37	4482	c.4414G>C	c.(4414-4416)Gaa>Caa	p.E1472Q		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1472						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAGAGAGATTCTGATCTGGAA	0.438																																						ENST00000379310.3																			0											c.(4414-4416)Gaa>Caa		von Willebrand factor A domain containing 8							95.0	91.0	92.0					13																	42245279		1914	4135	6049	SO:0001583	missense	23078							g.chr13:42245279C>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4414G>C	13.37:g.42245279C>G	ENSP00000368612:p.Glu1472Gln						p.E1472Q	NM_015058.1	NP_055873.1					37	4482	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4414G>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418583	0.11870	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09723	2.95	5.57	5.57	0.84162	.	0.400826	0.27682	N	0.018299	T	0.07234	0.0183	L	0.29908	0.895	0.37181	D	0.903488	B	0.11235	0.004	B	0.09377	0.004	T	0.32481	-0.9905	10	0.14252	T	0.57	.	7.3611	0.26748	0.0:0.7127:0.1439:0.1433	.	1472	A3KMH1	K0564_HUMAN	Q	1376;1472	ENSP00000368612:E1472Q	ENSP00000251030:E1376Q	E	-	1	0	KIAA0564	41143279	0.036000	0.19791	0.901000	0.35422	0.594000	0.36715	1.464000	0.35288	2.640000	0.89533	0.655000	0.94253	GAA		0.438	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		28	82	0	0	0	1	0	28	82				
ARHGAP19	84986	broad.mit.edu	37	10	99003902	99003902	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:99003902G>C	ENST00000358531.4	-	8	1036	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	ARHGAP19_ENST00000371027.1_Silent_p.L327L|ARHGAP19_ENST00000355366.5_Silent_p.L327L|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.L336L|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.L336L|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.L307L	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	336					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ATGAAGCTATGAGGTCAAGGT	0.428																																						ENST00000453547.2																			0											c.(1006-1008)ctC>ctG									76.0	76.0	76.0					10																	99003902		2203	4300	6503	SO:0001819	synonymous_variant	100533184							g.chr10:99003902G>C	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1008C>G	10.37:g.99003902G>C						ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.L336L|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.L307L|ARHGAP19_ENST00000355366.5_Silent_p.L327L|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Silent_p.L327L|ARHGAP19_ENST00000358531.4_Silent_p.L336L	p.L336L							8	1007	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Silent	SNP	ENST00000358531.4	37	c.1008C>G	CCDS7454.2																																																																																				0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		16	54	0	0	0	1	0	16	54				
HECW1	23072	broad.mit.edu	37	7	43546766	43546766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:43546766C>G	ENST00000395891.2	+	22	4267	c.3662C>G	c.(3661-3663)tCc>tGc	p.S1221C	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.S1187C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAGCCCCTTCCCCCTACCGA	0.463																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3661-3663)tCc>tGc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							81.0	85.0	83.0					7																	43546766		1843	4094	5937	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43546766C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3662C>G	7.37:g.43546766C>G	ENSP00000379228:p.Ser1221Cys					HECW1_ENST00000453890.1_Missense_Mutation_p.S1187C	p.S1221C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			22	4267	+			1221					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3662C>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	31	5.062467	0.93898	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85088	-1.94;-1.94	5.9	5.9	0.94986	.	1.937370	0.01963	N	0.043513	D	0.88955	0.6578	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.995;0.996	P;P	0.57776	0.781;0.827	T	0.77073	-0.2723	10	0.87932	D	0	.	19.8784	0.96886	0.0:1.0:0.0:0.0	.	1187;1221	B4DH42;Q76N89	.;HECW1_HUMAN	C	1221;1187;1221	ENSP00000379228:S1221C;ENSP00000407774:S1187C	ENSP00000265522:S1221C	S	+	2	0	HECW1	43513291	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.785000	0.85724	2.802000	0.96397	0.542000	0.68232	TCC		0.463	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		10	47	0	0	0	1	0	10	47				
PTPRE	5791	broad.mit.edu	37	10	129877957	129877957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:129877957C>G	ENST00000254667.3	+	20	2305	c.2026C>G	c.(2026-2028)Ctg>Gtg	p.L676V	PTPRE_ENST00000419012.2_Missense_Mutation_p.L676V|PTPRE_ENST00000306042.5_Missense_Mutation_p.L618V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	676	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGTGCAAACCCTGGTAAGAAT	0.398																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(2026-2028)Ctg>Gtg		protein tyrosine phosphatase, receptor type, E							83.0	83.0	83.0					10																	129877957		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877957C>G	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.2026C>G	10.37:g.129877957C>G	ENSP00000254667:p.Leu676Val					PTPRE_ENST00000419012.2_Missense_Mutation_p.L676V|PTPRE_ENST00000306042.5_Missense_Mutation_p.L618V	p.L676V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2305	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	676			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.2026C>G	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	2.767	-0.256581	0.05829	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.12147	2.71;2.71;2.71	4.61	4.61	0.57282	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.088773	0.46758	D	0.000274	T	0.09555	0.0235	N	0.25144	0.715	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14023	0.01;0.002;0.01	T	0.07065	-1.0792	10	0.02654	T	1	.	18.0482	0.89340	0.0:1.0:0.0:0.0	.	676;618;676	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	V	676;676;618	ENSP00000254667:L676V;ENSP00000402337:L676V;ENSP00000303350:L618V	ENSP00000254667:L676V	L	+	1	2	PTPRE	129767947	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.858000	0.48356	2.555000	0.86185	0.650000	0.86243	CTG		0.398	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			14	42	0	0	0	1	0	14	42				
ZNF441	126068	broad.mit.edu	37	19	11891352	11891352	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11891352C>G	ENST00000357901.4	+	4	815	c.713C>G	c.(712-714)tCc>tGc	p.S238C	ZNF441_ENST00000454339.2_Missense_Mutation_p.S171C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATAGTTCCACTCTAAGA	0.373																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(712-714)tCc>tGc		zinc finger protein 441							74.0	68.0	70.0					19																	11891352		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891352C>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.713C>G	19.37:g.11891352C>G	ENSP00000350576:p.Ser238Cys					ZNF441_ENST00000454339.2_Missense_Mutation_p.S171C	p.S238C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	815	+			238						Missense_Mutation	SNP	ENST00000357901.4	37	c.713C>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379212	0.24944	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.16457	2.34;2.34	0.986	-1.97	0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.16854	0.0405	M	0.73753	2.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29518	-1.0009	9	0.48119	T	0.1	.	3.6249	0.08109	0.5412:0.2584:0.2005:0.0	.	238	Q8N8Z8	ZN441_HUMAN	C	194;238;171	ENSP00000350576:S238C;ENSP00000403738:S171C	ENSP00000350576:S238C	S	+	2	0	ZNF441	11752352	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.422000	0.02453	-1.090000	0.03069	0.455000	0.32223	TCC		0.373	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		6	50	0	0	0	1	0	6	50				
RIMKLA	284716	broad.mit.edu	37	1	42880523	42880523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:42880523G>A	ENST00000431473.3	+	5	1183	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	352					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TAGTGAAAGTGAGCCTGAACT	0.552																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1054-1056)Gag>Aag		ribosomal modification protein rimK-like family member A							74.0	74.0	74.0					1																	42880523		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880523G>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1054G>A	1.37:g.42880523G>A	ENSP00000414330:p.Glu352Lys						p.E352K	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1183	+			352					Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.1054G>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196483	0.58126	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	5.23	0.72850	.	0.169692	0.52532	D	0.000067	T	0.49389	0.1554	L	0.40543	1.245	0.51767	D	0.999932	P	0.40144	0.704	B	0.36719	0.231	T	0.51236	-0.8731	9	0.39692	T	0.17	-35.1353	16.306	0.82848	0.0:0.0:1.0:0.0	.	352	Q8IXN7	RIMKA_HUMAN	K	352	.	ENSP00000414330:E352K	E	+	1	0	RIMKLA	42653110	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.961000	0.93122	2.447000	0.82792	0.561000	0.74099	GAG		0.552	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		17	77	0	0	0	1	0	17	77				
ZMYND15	84225	broad.mit.edu	37	17	4642687	4642687	+	5'Flank	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4642687G>T	ENST00000433935.1	+	0	0				ZMYND15_ENST00000269289.6_5'Flank|ZMYND15_ENST00000592813.1_5'Flank|ZMYND15_ENST00000573751.2_5'Flank|CXCL16_ENST00000574412.1_Missense_Mutation_p.S2Y|CXCL16_ENST00000293778.6_Missense_Mutation_p.S2Y	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGACTCCCAGACATGCTCCG	0.711																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(4-6)tCt>tAt		chemokine (C-X-C motif) ligand 16							22.0	27.0	25.0					17																	4642687		2203	4299	6502	SO:0001631	upstream_gene_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4642687G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760		17.37:g.4642687G>T	Exception_encountered					CXCL16_ENST00000574412.1_Missense_Mutation_p.S2Y	p.S2Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			1	427	-			0					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.5C>A	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367992	0.24771	.	.	ENSG00000161921	ENST00000293778	T	0.34667	1.35	2.47	1.45	0.22620	.	.	.	.	.	T	0.35653	0.0939	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28459	-1.0043	6	0.62326	D	0.03	2.7632	7.0966	0.25313	0.0:0.2825:0.7175:0.0	.	.	.	.	Y	2	ENSP00000293778:S2Y	ENSP00000293778:S2Y	S	-	2	0	CXCL16	4589436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.386000	0.07370	0.575000	0.29434	-0.315000	0.08773	TCT		0.711	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		5	25	1	0	8.12818e-05	1	8.29678e-05	5	25				
FAT1	2195	broad.mit.edu	37	4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3598-3600)tCa>tGa		FAT atypical cadherin 1							143.0	144.0	144.0					4																	187560919		1862	4103	5965	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187560919G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3599C>G	4.37:g.187560919G>C	ENSP00000406229:p.Ser1200*	HNSCC(5;0.00058)					p.S1200*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			4	3808	-			1200			Cadherin 10.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3599C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.871276	0.99481	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.7	4.7	0.59300	.	0.127265	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.4894	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	1200	.	ENSP00000260147:S1200X	S	-	2	0	FAT1	187797913	1.000000	0.71417	0.178000	0.23040	0.967000	0.64934	8.644000	0.91044	2.455000	0.83008	0.655000	0.94253	TCA		0.328	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	68	0	0	0	1	0	8	68				
GALT	2592	broad.mit.edu	37	9	34646747	34646747	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34646747G>C	ENST00000378842.3	+	1	88	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	GALT_ENST00000450095.2_5'UTR|GALT_ENST00000556278.1_Missense_Mutation_p.E16Q	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	16					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCGTCAGAGGCGGACGC	0.667									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(46-48)Gag>Cag		galactose-1-phosphate uridylyltransferase							41.0	44.0	43.0					9																	34646747		2201	4300	6501	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34646747G>C	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.46G>C	9.37:g.34646747G>C	ENSP00000368119:p.Glu16Gln		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	849	GALT_ENST00000556278.1_Missense_Mutation_p.E16Q|GALT_ENST00000450095.2_5'UTR	p.E16Q	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	1	88	+	all_epithelial(49;0.102)		16					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.46G>C	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518752	0.85495	.	.	ENSG00000213930;ENSG00000258728	ENST00000378842;ENST00000556278	D;D	0.99557	-6.16;-5.07	5.64	5.64	0.86602	.	0.363501	0.21639	U	0.071366	D	0.98789	0.9592	N	0.25647	0.755	0.80722	D	1	D	0.57571	0.98	P	0.52598	0.703	D	0.99038	1.0823	10	0.44086	T	0.13	-7.9894	16.4444	0.83913	0.0:0.0:1.0:0.0	.	16	P07902	GALT_HUMAN	Q	16	ENSP00000368119:E16Q;ENSP00000451792:E16Q	ENSP00000368119:E16Q	E	+	1	0	RP11-195F19.29;GALT	34636747	0.988000	0.35896	1.000000	0.80357	0.280000	0.26924	2.319000	0.43788	2.675000	0.91044	0.462000	0.41574	GAG		0.667	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		23	77	0	0	0	1	0	23	77				
TDRD5	163589	broad.mit.edu	37	1	179609568	179609568	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:179609568G>A	ENST00000367614.1	+	11	2147	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V	TDRD5_ENST00000444136.1_Silent_p.V596V|TDRD5_ENST00000294848.8_Silent_p.V596V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	596					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGCTTGGGTGAGACCAGTAG	0.408																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1786-1788)gtG>gtA		tudor domain containing 5							193.0	158.0	170.0					1																	179609568		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609568G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1788G>A	1.37:g.179609568G>A						TDRD5_ENST00000367614.1_Silent_p.V596V|TDRD5_ENST00000294848.8_Silent_p.V596V	p.V596V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			11	2038	+			596					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.1788G>A	CCDS1332.1																																																																																				0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		7	71	0	0	0	1	0	7	71				
CEP85L	387119	broad.mit.edu	37	6	118812932	118812932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:118812932C>T	ENST00000368491.3	-	6	1975	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	CEP85L_ENST00000360290.3_Missense_Mutation_p.E350K|CEP85L_ENST00000368488.5_Missense_Mutation_p.E455K|CEP85L_ENST00000392500.3_Missense_Mutation_p.E455K|CEP85L_ENST00000419517.2_Missense_Mutation_p.E452K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	452						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ACTTCTTTCTCAGTAGATGCA	0.368																																						ENST00000368491.3																			0											c.(1354-1356)Gag>Aag		centrosomal protein 85kDa-like							88.0	89.0	89.0					6																	118812932		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118812932C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1354G>A	6.37:g.118812932C>T	ENSP00000357477:p.Glu452Lys					CEP85L_ENST00000368488.5_Missense_Mutation_p.E455K|CEP85L_ENST00000360290.3_Missense_Mutation_p.E350K|CEP85L_ENST00000392500.3_Missense_Mutation_p.E455K|CEP85L_ENST00000419517.2_Missense_Mutation_p.E452K	p.E452K	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			6	1975	-			452					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1354G>A	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875309	0.91664	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.47869	2.72;2.72;2.72;1.13;0.83;1.16	6.08	5.16	0.70880	.	0.049986	0.85682	D	0.000000	T	0.55784	0.1942	M	0.73962	2.25	0.46849	D	0.999228	D;D;D;D	0.57571	0.98;0.98;0.98;0.98	P;P;P;P	0.54856	0.762;0.762;0.701;0.762	T	0.60424	-0.7266	10	0.87932	D	0	-23.4208	16.1907	0.81987	0.0:0.7662:0.2338:0.0	.	455;452;455;452	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	K	452;455;455;455;350;452	ENSP00000357477:E452K;ENSP00000357474:E455K;ENSP00000392131:E455K;ENSP00000376288:E455K;ENSP00000353434:E350K;ENSP00000393317:E452K	ENSP00000353434:E350K	E	-	1	0	C6orf204	118919625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.990000	0.56965	2.894000	0.99253	0.655000	0.94253	GAG		0.368	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		4	39	0	0	0	1	0	4	39				
TDRD3	81550	broad.mit.edu	37	13	61084791	61084791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61084791G>A	ENST00000196169.3	+	10	1552	c.764G>A	c.(763-765)aGa>aAa	p.R255K	TDRD3_ENST00000377881.2_Missense_Mutation_p.R255K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R255K|TDRD3_ENST00000535286.1_Missense_Mutation_p.R348K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	255					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R255I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGGCGAATAAGATCTGAAGAT	0.368																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			1	Substitution - Missense(1)	p.R255I(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(763-765)aGa>aAa		tudor domain containing 3							99.0	101.0	100.0					13																	61084791		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61084791G>A	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.764G>A	13.37:g.61084791G>A	ENSP00000196169:p.Arg255Lys					TDRD3_ENST00000377894.2_Missense_Mutation_p.R255K|TDRD3_ENST00000535286.1_Missense_Mutation_p.R348K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R255K	p.R255K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	10	1552	+		Prostate(109;0.173)|Breast(118;0.174)	255					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.764G>A	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176565	0.94846	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	M	0.68952	2.095	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.987;0.937	D	0.93063	0.6476	10	0.05833	T	0.94	-22.2458	19.8994	0.96980	0.0:0.0:1.0:0.0	.	348;254;255	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	255;255;255;348	ENSP00000196169:R255K;ENSP00000367113:R255K;ENSP00000367126:R255K;ENSP00000440190:R348K	ENSP00000196169:R255K	R	+	2	0	TDRD3	59982792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.042000	0.93793	2.703000	0.92315	0.650000	0.86243	AGA		0.368	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		18	53	0	0	0	1	0	18	53				
HLA-A	3105	broad.mit.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.E43*(1)|p.R41fs*31(1)	cervix(1)|ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(127-129)Gag>Tag		major histocompatibility complex, class I, A							23.0	22.0	22.0					6																	29910587		2198	4294	6492	SO:0001587	stop_gained	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910587G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.127G>T	6.37:g.29910587G>T	ENSP00000379873:p.Glu43*	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*	p.E43*			P30443	1A01_HUMAN			4	468	+			43			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.127G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	6.774052	0.97829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.575	0.17374	.	2.237780	0.03383	U	0.200671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3062	0.07001	0.2361:0.0:0.5616:0.2024	.	.	.	.	X	43	.	ENSP00000348012:E43X	E	+	1	0	HLA-A	30018566	0.008000	0.16893	0.000000	0.03702	0.452000	0.32318	0.240000	0.18042	0.004000	0.14682	0.478000	0.44815	GAG		0.706	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		10	26	1	0	4.68919e-08	1	4.86075e-08	10	26				
RGS18	64407	broad.mit.edu	37	1	192150586	192150586	+	Missense_Mutation	SNP	G	G	C	rs140969834		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:192150586G>C	ENST00000367460.3	+	4	629	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCCAAAAGAGGTACAGTA	0.269																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(448-450)Gag>Cag		regulator of G-protein signaling 18		G	GLN/GLU	0,4400		0,0,2200	44.0	45.0	45.0		448	5.3	1.0	1	dbSNP_134	45	1,8569	1.2+/-3.3	0,1,4284	no	missense	RGS18	NM_130782.2	29	0,1,6484	CC,CG,GG		0.0117,0.0,0.0077	probably-damaging	150/236	192150586	1,12969	2200	4285	6485	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150586G>C	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.448G>C	1.37:g.192150586G>C	ENSP00000356430:p.Glu150Gln						p.E150Q	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			4	629	+			150			RGS.		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.448G>C	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649653	0.67358	0.0	1.17E-4	ENSG00000150681	ENST00000367460	T	0.02345	4.33	5.34	5.34	0.76211	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01159	-1.1433	10	0.54805	T	0.06	.	17.615	0.88065	0.0:0.0:1.0:0.0	.	150	Q9NS28	RGS18_HUMAN	Q	150	ENSP00000356430:E150Q	ENSP00000356430:E150Q	E	+	1	0	RGS18	190417209	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	9.447000	0.97595	2.519000	0.84933	0.460000	0.39030	GAG		0.269	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		7	38	0	0	0	1	0	7	38				
MYO1B	4430	broad.mit.edu	37	2	192225432	192225432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225432C>G	ENST00000392318.3	+	8	885	c.638C>G	c.(637-639)tCt>tGt	p.S213C	MYO1B_ENST00000339514.4_Missense_Mutation_p.S213C|MYO1B_ENST00000304164.4_Missense_Mutation_p.S213C|MYO1B_ENST00000392316.1_Missense_Mutation_p.S213C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	213	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S213C(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGCTGCTCTCTGGTGCCTCT	0.413																																						ENST00000392318.3																			2	Substitution - Missense(2)	p.S213C(2)	lung(2)	NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(637-639)tCt>tGt		myosin IB							194.0	187.0	189.0					2																	192225432		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225432C>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.638C>G	2.37:g.192225432C>G	ENSP00000376132:p.Ser213Cys					MYO1B_ENST00000392316.1_Missense_Mutation_p.S213C|MYO1B_ENST00000339514.4_Missense_Mutation_p.S213C|MYO1B_ENST00000304164.4_Missense_Mutation_p.S213C	p.S213C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	885	+			213			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.638C>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369914	0.61624	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	L	0.42686	1.345	0.80722	D	1	B;B	0.21452	0.056;0.011	B;B	0.27608	0.081;0.033	T	0.82468	-0.0442	10	0.44086	T	0.13	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	213;213	O43795;O43795-2	MYO1B_HUMAN;.	C	213	ENSP00000341903:S213C;ENSP00000376132:S213C;ENSP00000306382:S213C;ENSP00000388140:S213C;ENSP00000376130:S213C	ENSP00000306382:S213C	S	+	2	0	MYO1B	191933677	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.115000	0.77110	2.681000	0.91329	0.655000	0.94253	TCT		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		38	102	0	0	0	1	0	38	102				
ATP2C2	9914	broad.mit.edu	37	16	84474551	84474551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:84474551G>A	ENST00000262429.4	+	14	1387	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	ATP2C2_ENST00000416219.2_Missense_Mutation_p.G433E|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	433					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTCAGTGGGAAAGTTAGTG	0.493																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1297-1299)gGa>gAa		ATPase, Ca++ transporting, type 2C, member 2							91.0	93.0	92.0					16																	84474551		1935	4143	6078	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84474551G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1298G>A	16.37:g.84474551G>A	ENSP00000262429:p.Gly433Glu					ATP2C2_ENST00000262429.4_Missense_Mutation_p.G433E|ATP2C2_ENST00000420010.2_3'UTR	p.G433E			O75185	AT2C2_HUMAN			14	1387	+			433					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1298G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324308	0.10900	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.69175	-0.38;-0.38	5.69	5.69	0.88448	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.329961	0.29053	N	0.013293	T	0.44871	0.1314	N	0.01493	-0.835	0.48236	D	0.99961	B;B;B;B	0.31413	0.03;0.185;0.024;0.322	B;B;B;B	0.40329	0.065;0.205;0.039;0.326	T	0.50898	-0.8773	10	0.05436	T	0.98	.	18.7861	0.91955	0.0:0.0:1.0:0.0	.	433;282;450;433	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	E	433;433;282	ENSP00000397925:G433E;ENSP00000262429:G433E	ENSP00000262429:G433E	G	+	2	0	ATP2C2	83032052	1.000000	0.71417	0.854000	0.33618	0.009000	0.06853	7.299000	0.78831	2.672000	0.90937	0.650000	0.86243	GGA		0.493	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		5	23	0	0	0	1	0	5	23				
CCDC171	203238	broad.mit.edu	37	9	15591402	15591402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:15591402G>C	ENST00000380701.3	+	5	719	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CCDC171_ENST00000297641.3_Missense_Mutation_p.E131Q|CCDC171_ENST00000535968.1_Missense_Mutation_p.E131Q	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	131	Glu-rich.																AAATGAGACTGAGAAAGCATT	0.338																																						ENST00000380701.3																			0											c.(391-393)Gag>Cag		coiled-coil domain containing 171							62.0	61.0	62.0					9																	15591402		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15591402G>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.391G>C	9.37:g.15591402G>C	ENSP00000370077:p.Glu131Gln					CCDC171_ENST00000297641.3_Missense_Mutation_p.E131Q|CCDC171_ENST00000535968.1_Missense_Mutation_p.E131Q	p.E131Q	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			5	719	+			131			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.391G>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086771	0.55861	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	T;T;T	0.53857	0.6;0.6;0.6	5.58	5.58	0.84498	.	0.051960	0.85682	D	0.000000	T	0.59487	0.2197	N	0.20986	0.625	0.36247	D	0.853638	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	T	0.62353	-0.6872	10	0.30078	T	0.28	-13.9639	16.5357	0.84372	0.0:0.0:1.0:0.0	.	131;131;131;131	B7ZM22;Q6TFL3-3;Q6TFL3;Q7Z3F8	.;.;CI093_HUMAN;.	Q	131	ENSP00000438838:E131Q;ENSP00000297641:E131Q;ENSP00000370077:E131Q	ENSP00000297641:E131Q	E	+	1	0	C9orf93	15581402	1.000000	0.71417	0.952000	0.39060	0.743000	0.42351	5.809000	0.69172	2.639000	0.89480	0.549000	0.68633	GAG		0.338	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		5	28	0	0	0	1	0	5	28				
FAM57B	83723	broad.mit.edu	37	16	30040777	30040777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30040777G>A	ENST00000380495.4	-	2	916	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F|FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	62	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGCTTGCAGGAGGTGGAGAC	0.607																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(184-186)tCc>tTc		family with sequence similarity 57, member B							118.0	96.0	104.0					16																	30040777		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30040777G>A	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.185C>T	16.37:g.30040777G>A	ENSP00000369863:p.Ser62Phe					FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F|FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F	p.S62F	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			2	916	-			62			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.185C>T	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.514130|4.514130	0.85389|0.85389	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000279389|ENST00000380495	.|D	.|0.86297	.|-2.1	5.11|5.11	4.15|4.15	0.48705|0.48705	.|TRAM/LAG1/CLN8 homology domain (3);	.|0.247869	.|0.41823	.|D	.|0.000813	D|D	0.91811|0.91811	0.7409|0.7409	M|M	0.82716|0.82716	2.605|2.605	0.51012|0.51012	D|D	0.9999|0.9999	.|D;D	.|0.76494	.|0.999;0.986	.|D;P	.|0.72338	.|0.977;0.827	D|D	0.90245|0.90245	0.4289|0.4289	5|10	.|0.08179	.|T	.|0.78	-5.9389|-5.9389	12.4967|12.4967	0.55931|0.55931	0.083:0.0:0.917:0.0|0.083:0.0:0.917:0.0	.|.	.|62;62	.|F1T0F5;Q71RH2	.|.;FA57B_HUMAN	S|F	29|62	.|ENSP00000369863:S62F	.|ENSP00000369863:S62F	P|S	-|-	1|2	0|0	FAM57B|FAM57B	29948278|29948278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.456000|3.456000	0.53000|0.53000	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.607	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		12	47	0	0	0	1	0	12	47				
DCDC1	341019	broad.mit.edu	37	11	31128423	31128423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:31128423C>T	ENST00000597505.1	-	11	1671	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	218					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGGCCATTCTCATCAAAAAGC	0.418											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(1672-1674)Gag>Aag		doublecortin domain containing 1							104.0	96.0	99.0					11																	31128423		1818	4096	5914	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31128423C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1672G>A	11.37:g.31128423C>T	ENSP00000472625:p.Glu558Lys		OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	822	DCDC1_ENST00000437348.1_5'UTR	p.E558K			P59894	DCDC1_HUMAN			11	1671	-	Lung SC(675;0.225)		218					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.1672G>A																																																																																					0.418	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		10	43	0	0	0	1	0	10	43				
CYP2A6	1548	broad.mit.edu	37	19	41350671	41350671	+	Missense_Mutation	SNP	C	C	T	rs376817657		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41350671C>T	ENST00000301141.5	-	8	1188	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	390					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGAACACTTCGGTGCCCTGG	0.572																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(1168-1170)Gaa>Aaa		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	C	LYS/GLU	1,4405		0,1,2202	65.0	66.0	66.0		1168	3.4	1.0	19		66	2,8598		0,2,4298	no	missense	CYP2A6	NM_000762.5	56	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	390/495	41350671	3,13003	2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41350671C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1168G>A	19.37:g.41350671C>T	ENSP00000301141:p.Glu390Lys					CTC-490E21.12_ENST00000601627.1_Intron	p.E390K	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		8	1188	-			390					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.1168G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.681992	0.29872	2.27E-4	2.33E-4	ENSG00000255974	ENST00000301141	T	0.68479	-0.33	3.39	3.39	0.38822	.	0.355074	0.29403	U	0.012256	T	0.62962	0.2471	N	0.20357	0.565	0.09310	N	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.51260	-0.8728	10	0.20046	T	0.44	.	7.0697	0.25171	0.0:0.8669:0.0:0.1331	.	390	P11509	CP2A6_HUMAN	K	390	ENSP00000301141:E390K	ENSP00000301141:E390K	E	-	1	0	CYP2A6	46042511	0.000000	0.05858	0.970000	0.41538	0.922000	0.55478	-0.056000	0.11787	1.605000	0.50152	0.379000	0.24179	GAA		0.572	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		37	68	0	0	0	1	0	37	68				
SELP	6403	broad.mit.edu	37	1	169565312	169565312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:169565312C>T	ENST00000263686.6	-	12	1989	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	SELP_ENST00000367788.2_Missense_Mutation_p.G589E|SELP_ENST00000367791.2_Missense_Mutation_p.G465E|SELP_ENST00000367794.2_Missense_Mutation_p.G589E|SELP_ENST00000367793.2_Missense_Mutation_p.G589E|SELP_ENST00000458599.2_Missense_Mutation_p.G467E|SELP_ENST00000367792.2_Missense_Mutation_p.G467E|SELP_ENST00000367786.2_Missense_Mutation_p.G589E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	651	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTACATGGTTCCCTGCCCAGG	0.493																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1951-1953)gGa>gAa		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						237.0	237.0	237.0					1																	169565312		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565312C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1952G>A	1.37:g.169565312C>T	ENSP00000263686:p.Gly651Glu					SELP_ENST00000367791.2_Missense_Mutation_p.G465E|SELP_ENST00000458599.2_Missense_Mutation_p.G467E|SELP_ENST00000367794.2_Missense_Mutation_p.G589E|SELP_ENST00000367786.2_Missense_Mutation_p.G589E|SELP_ENST00000367793.2_Missense_Mutation_p.G589E|SELP_ENST00000367792.2_Missense_Mutation_p.G467E|SELP_ENST00000367788.2_Missense_Mutation_p.G589E	p.G651E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			12	1989	-	all_hematologic(923;0.208)		651			Sushi 8.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1952G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982834	0.74474	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	4.22	4.22	0.49857	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000036	T	0.81513	0.4838	H	0.99238	4.48	0.28473	N	0.915343	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78575	-0.2151	10	0.62326	D	0.03	-16.3955	12.2662	0.54679	0.0:1.0:0.0:0.0	.	651;651;651	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	E	465;651;650;467;651;651;589;589;467;465;589;589;574	ENSP00000263686:G651E;ENSP00000356767:G589E;ENSP00000356768:G589E;ENSP00000356766:G467E;ENSP00000356765:G465E;ENSP00000356762:G589E;ENSP00000356760:G589E	ENSP00000263686:G651E	G	-	2	0	SELP	167831936	0.906000	0.30813	0.897000	0.35233	0.344000	0.29017	1.638000	0.37165	2.328000	0.79073	0.563000	0.77884	GGA		0.493	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		40	224	0	0	0	1	0	40	224				
RYBP	23429	broad.mit.edu	37	3	72428456	72428456	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428456T>G	ENST00000477973.2	-	2	545	c.546A>C	c.(544-546)gaA>gaC	p.E182D		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.|Ser-rich.				apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTCCTTGTCTTTCTCAGGTTT	0.408																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(544-546)gaA>gaC		RING1 and YY1 binding protein							253.0	239.0	243.0					3																	72428456		1850	4089	5939	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428456T>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.546A>C	3.37:g.72428456T>G	ENSP00000419494:p.Glu182Asp						p.E182D	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	545	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0			Interaction with E4TF1B.|Ser-rich.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.546A>C		.	.	.	.	.	.	.	.	.	.	T	10.37	1.330638	0.24167	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	T	0.34571	0.0902	N	0.02539	-0.55	.	.	.	.	.	.	.	.	.	T	0.51196	-0.8736	5	0.27785	T	0.31	-30.7468	16.2389	0.82396	0.0:0.0:0.0:1.0	.	.	.	.	D	182	.	ENSP00000419494:E182D	E	-	3	2	RYBP	72511146	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.995000	0.57001	2.302000	0.77476	0.533000	0.62120	GAA		0.408	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		17	84	0	0	0	1	0	17	84				
TBC1D3	729873	broad.mit.edu	37	17	36359043	36359043	+	5'Flank	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:36359043C>G	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000312412.4_Splice_Site|RP11-1407O15.2_ENST00000544906.1_Splice_Site			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAATTACATTCTTTAAGAAAG	0.358																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.e6-1																																						SO:0001631	upstream_gene_variant	101929950							g.chr17:36359043C>G		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36359043C>G	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Splice_Site								6	648	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Splice_Site	SNP	ENST00000537432.1	37		CCDS45658.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827576	0.32329	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000523089;ENST00000518004	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0172	0.58764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-1407O15.2	33612834	1.000000	0.71417	0.989000	0.46669	0.599000	0.36880	7.523000	0.81856	1.394000	0.46624	0.194000	0.17425	.		0.358	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		7	151	0	0	0	1	0	7	151				
EWSR1	2130	broad.mit.edu	37	22	29695726	29695726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29695726G>C	ENST00000397938.2	+	16	2135	c.1816G>C	c.(1816-1818)Gac>Cac	p.D606H	EWSR1_ENST00000332050.6_Missense_Mutation_p.D533H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D605H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D568H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D611H|EWSR1_ENST00000332035.6_Missense_Mutation_p.D550H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	606	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCGGGGCATGGACCGAGGTGG	0.642			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1816-1818)Gac>Cac		EWS RNA-binding protein 1							68.0	62.0	64.0					22																	29695726		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695726G>C		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1816G>C	22.37:g.29695726G>C	ENSP00000381031:p.Asp606His					EWSR1_ENST00000414183.2_Missense_Mutation_p.D611H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D605H|EWSR1_ENST00000332035.6_Missense_Mutation_p.D550H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D533H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D568H	p.D606H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2135	+			606			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1816G>C	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.27|17.27	3.347284|3.347284	0.61183|0.61183	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	D;D;D;D;D;D|.	0.96885|.	-4.08;-3.62;-3.75;-4.16;-3.77;-3.63|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.74489|0.74489	0.3723|0.3723	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996;0.996|.	P;P;P;P;P|.	0.54372|.	0.75;0.75;0.75;0.75;0.75|.	T|T	0.73458|0.73458	-0.3976|-0.3976	10|5	0.51188|.	T|.	0.08|.	.|.	18.7035|18.7035	0.91629|0.91629	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	550;605;550;611;606|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	H|A	533;606;605;568;611;550|257	ENSP00000330896:D533H;ENSP00000381031:D606H;ENSP00000385726:D605H;ENSP00000330516:D568H;ENSP00000400142:D611H;ENSP00000331699:D550H|.	ENSP00000330516:D568H|.	D|G	+|+	1|2	0|0	EWSR1|EWSR1	28025726|28025726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	8.846000|8.846000	0.92159|0.92159	2.423000|2.423000	0.82170|0.82170	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.642	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		6	22	0	0	0	1	0	6	22				
CLDN23	137075	broad.mit.edu	37	8	8559962	8559962	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:8559962C>G	ENST00000519106.1	+	1	515	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	18					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCTGCGGGCTCCTGCTCAACC	0.711																																						ENST00000519106.1																			0				endometrium(2)	2						c.(52-54)ctC>ctG		claudin 23							12.0	16.0	15.0					8																	8559962		1980	4171	6151	SO:0001819	synonymous_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8559962C>G	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.54C>G	8.37:g.8559962C>G							p.L18L	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	515	+		Hepatocellular(245;0.217)	18					Q08AJ3	Silent	SNP	ENST00000519106.1	37	c.54C>G	CCDS55195.1																																																																																				0.711	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		8	30	0	0	0	1	0	8	30				
TNS4	84951	broad.mit.edu	37	17	38640807	38640807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:38640807G>C	ENST00000254051.6	-	6	1588	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	477	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCGGTATGAAGAGCTGTCCCT	0.582																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1429-1431)tCt>tGt		tensin 4							72.0	61.0	65.0					17																	38640807		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38640807G>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1430C>G	17.37:g.38640807G>C	ENSP00000254051:p.Ser477Cys						p.S477C	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		6	1588	-		Breast(137;0.000496)	477			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.1430C>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576642	0.65878	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	D	0.89617	-2.54	5.6	4.61	0.57282	SH2 motif (4);	0.529420	0.17772	N	0.162549	D	0.93729	0.7996	M	0.83012	2.62	0.30933	N	0.726728	D	0.76494	0.999	D	0.66847	0.947	D	0.91831	0.5475	10	0.59425	D	0.04	-9.5069	10.9703	0.47436	0.0:0.1407:0.7132:0.1461	.	477	Q8IZW8	TENS4_HUMAN	C	477	ENSP00000254051:S477C	ENSP00000254051:S477C	S	-	2	0	TNS4	35894333	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	2.226000	0.42963	1.323000	0.45263	0.561000	0.74099	TCT		0.582	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		12	54	0	0	0	1	0	12	54				
TLR4	7099	broad.mit.edu	37	9	120474818	120474818	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:120474818C>G	ENST00000355622.6	+	3	513	c.412C>G	c.(412-414)Cta>Gta	p.L138V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L98V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	138					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L138I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGAGACAAATCTAGCATCTCT	0.408																																						ENST00000355622.6																			1	Substitution - Missense(1)	p.L138I(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(412-414)Cta>Gta		toll-like receptor 4							85.0	87.0	87.0					9																	120474818		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474818C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.412C>G	9.37:g.120474818C>G	ENSP00000363089:p.Leu138Val					TLR4_ENST00000394487.4_Missense_Mutation_p.L98V|TLR4_ENST00000472304.1_3'UTR	p.L138V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	513	+			138					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.412C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	4.368	0.067916	0.08436	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.01287	5.05;5.05	5.08	-0.375	0.12509	.	0.598725	0.14868	N	0.293711	T	0.02767	0.0083	M	0.70842	2.15	0.09310	N	1	B	0.26041	0.14	B	0.38106	0.265	T	0.36407	-0.9749	10	0.49607	T	0.09	.	5.2895	0.15719	0.4935:0.3331:0.1001:0.0733	.	138	O00206	TLR4_HUMAN	V	98;138	ENSP00000377997:L98V;ENSP00000363089:L138V	ENSP00000363089:L138V	L	+	1	2	TLR4	119514639	0.002000	0.14202	0.011000	0.14972	0.072000	0.16883	-0.018000	0.12568	-0.050000	0.13356	0.655000	0.94253	CTA		0.408	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		16	60	0	0	0	1	0	16	60				
RPRD1A	55197	broad.mit.edu	37	18	33613772	33613772	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:33613772G>C	ENST00000399022.4	-	2	351	c.180C>G	c.(178-180)ctC>ctG	p.L60L	RPRD1A_ENST00000357384.4_Silent_p.L60L|RPRD1A_ENST00000319040.6_Silent_p.L60L|RPRD1A_ENST00000588737.1_Silent_p.L24L|RPRD1A_ENST00000590898.1_Silent_p.L24L|RPRD1A_ENST00000337059.5_Silent_p.L24L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	60	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TGGCTAGGTAGAGAAAAGTAA	0.348																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(178-180)ctC>ctG		regulation of nuclear pre-mRNA domain containing 1A							106.0	102.0	104.0					18																	33613772		2203	4300	6503	SO:0001819	synonymous_variant	55197							g.chr18:33613772G>C	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.180C>G	18.37:g.33613772G>C						RPRD1A_ENST00000319040.6_Silent_p.L60L|RPRD1A_ENST00000590898.1_Silent_p.L24L|RPRD1A_ENST00000588737.1_Silent_p.L24L|RPRD1A_ENST00000337059.5_Silent_p.L24L|RPRD1A_ENST00000357384.4_Silent_p.L60L	p.L60L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			2	351	-			60			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	ENST00000399022.4	37	c.180C>G	CCDS11917.1																																																																																				0.348	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		10	46	0	0	0	1	0	10	46				
CASC5	57082	broad.mit.edu	37	15	40917154	40917154	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40917154G>C	ENST00000346991.5	+	11	5160	c.4770G>C	c.(4768-4770)ttG>ttC	p.L1590F	CASC5_ENST00000399668.2_Missense_Mutation_p.L1564F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1590					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAATAATTTGAATGGAAAAA	0.358																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(4768-4770)ttG>ttC		cancer susceptibility candidate 5							54.0	53.0	53.0					15																	40917154		1820	4080	5900	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917154G>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4770G>C	15.37:g.40917154G>C	ENSP00000335463:p.Leu1590Phe					CASC5_ENST00000399668.2_Missense_Mutation_p.L1564F	p.L1590F			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5160	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1590					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.4770G>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344621	0.24339	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05996	3.36;3.37	5.97	-0.65	0.11457	.	0.715038	0.11868	N	0.521728	T	0.07234	0.0183	M	0.63843	1.955	0.09310	N	1	B;B;B	0.29508	0.246;0.246;0.246	B;B;B	0.28139	0.086;0.086;0.086	T	0.29671	-1.0004	10	0.72032	D	0.01	.	5.2422	0.15477	0.3048:0.0:0.373:0.3222	.	1564;1590;1564	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	F	1590;1564;1564	ENSP00000335463:L1590F;ENSP00000382576:L1564F	ENSP00000260369:L1564F	L	+	3	2	CASC5	38704446	0.000000	0.05858	0.537000	0.28052	0.115000	0.19883	-0.684000	0.05173	0.127000	0.18452	0.585000	0.79938	TTG		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		14	45	0	0	0	1	0	14	45				
SMG5	23381	broad.mit.edu	37	1	156243190	156243190	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156243190C>T	ENST00000361813.5	-	6	740	c.596G>A	c.(595-597)aGa>aAa	p.R199K	SMG5_ENST00000368267.5_Missense_Mutation_p.R199K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	199					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTAGTAAAATCTCTCGGCTAG	0.468																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(595-597)aGa>aAa		SMG5 nonsense mediated mRNA decay factor							91.0	87.0	88.0					1																	156243190		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156243190C>T	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.596G>A	1.37:g.156243190C>T	ENSP00000355261:p.Arg199Lys					SMG5_ENST00000368267.4_Missense_Mutation_p.R199K	p.R199K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			6	740	-	Hepatocellular(266;0.158)		199					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.596G>A	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878221	0.91664	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.33654	1.4;1.4	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	L	0.45352	1.415	0.58432	D	0.999995	B	0.32968	0.392	P	0.45119	0.47	T	0.10683	-1.0619	10	0.51188	T	0.08	-30.6089	18.4695	0.90767	0.0:1.0:0.0:0.0	.	199	Q9UPR3	SMG5_HUMAN	K	199	ENSP00000355261:R199K;ENSP00000357250:R199K	ENSP00000355261:R199K	R	-	2	0	SMG5	154509814	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.574000	0.82434	2.941000	0.99782	0.655000	0.94253	AGA		0.468	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		8	27	0	0	0	1	0	8	27				
NDUFAF2	91942	broad.mit.edu	37	5	60448648	60448648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:60448648C>G	ENST00000296597.5	+	4	503	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	126					negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TCCACCAGTTCAAACTCAAAT	0.423																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6						c.(376-378)Caa>Gaa		NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							25.0	22.0	23.0					5																	60448648		2203	4299	6502	SO:0001583	missense	91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60448648C>G	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.376C>G	5.37:g.60448648C>G	ENSP00000296597:p.Gln126Glu					NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_3'UTR	p.Q126E	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			4	503	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	126					A8K5I1	Missense_Mutation	SNP	ENST00000296597.5	37	c.376C>G	CCDS3979.1	.	.	.	.	.	.	.	.	.	.	C	2.494	-0.316712	0.05386	.	.	ENSG00000164182	ENST00000296597	T	0.63096	-0.02	5.64	0.385	0.16249	.	0.573365	0.19020	N	0.124858	T	0.54111	0.1838	M	0.70595	2.14	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.46978	-0.9152	10	0.07030	T	0.85	.	12.7015	0.57035	0.0:0.3289:0.6012:0.0699	.	126	Q8N183	MIMIT_HUMAN	E	126	ENSP00000296597:Q126E	ENSP00000296597:Q126E	Q	+	1	0	NDUFAF2	60484405	0.415000	0.25416	0.009000	0.14445	0.423000	0.31445	1.002000	0.29796	-0.033000	0.13736	-0.156000	0.13503	CAA		0.423	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	11	0	0	0	1	0	3	11				
CNNM4	26504	broad.mit.edu	37	2	97427634	97427634	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:97427634G>A	ENST00000377075.2	+	1	996	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	300	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCTGTGGGTGCCAACACCAT	0.557																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(898-900)Gcc>Acc		cyclin M4							112.0	114.0	113.0					2																	97427634		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427634G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.898G>A	2.37:g.97427634G>A	ENSP00000366275:p.Ala300Thr						p.A300T	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	996	+			300			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.898G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720548	0.89205	.	.	ENSG00000158158	ENST00000377075	D	0.88354	-2.37	5.03	5.03	0.67393	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96517	0.9383	10	0.72032	D	0.01	-9.4289	17.1425	0.86757	0.0:0.0:1.0:0.0	.	300	Q6P4Q7	CNNM4_HUMAN	T	300	ENSP00000366275:A300T	ENSP00000366275:A300T	A	+	1	0	CNNM4	96791361	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.807000	0.99171	2.330000	0.79161	0.655000	0.94253	GCC		0.557	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		4	114	0	0	0	1	0	4	114				
NBPF1	55672	broad.mit.edu	37	1	16918493	16918493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16918493C>T	ENST00000430580.2	-	7	911	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	8						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTCGCTGGACCAAGGGCCAG	0.493																																						ENST00000430580.2																			0											c.(22-24)tgG>tgA		neuroblastoma breakpoint family, member 1							293.0	293.0	293.0					1																	16918493		2197	4298	6495	SO:0001587	stop_gained	55672					cytoplasm		g.chr1:16918493C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.24G>A	1.37:g.16918493C>T	ENSP00000474456:p.Trp8*						p.W8*	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	911	-			8					Q8N4E8|Q9C0H0	Nonsense_Mutation	SNP	ENST00000430580.2	37	c.24G>A																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		40	405	0	0	0	1	0	40	405				
RPL32	6161	broad.mit.edu	37	3	12880876	12880876	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:12880876C>G	ENST00000429711.2	-	3	349	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000435983.1_Missense_Mutation_p.E84Q|RPL32_ENST00000396953.2_Missense_Mutation_p.E84Q|RPL32_ENST00000396957.1_Missense_Mutation_p.E84Q|RPL32_ENST00000273223.6_Missense_Mutation_p.E102Q	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACTTCCAGCTCCTTGACGTTG	0.498																																						ENST00000429711.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(250-252)Gag>Cag		ribosomal protein L32							116.0	120.0	118.0					3																	12880876		2203	4300	6503	SO:0001583	missense	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12880876C>G	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.250G>C	3.37:g.12880876C>G	ENSP00000416429:p.Glu84Gln					RPL32_ENST00000396957.1_Missense_Mutation_p.E84Q|RPL32_ENST00000273223.6_Missense_Mutation_p.E102Q|RPL32_ENST00000435983.1_Missense_Mutation_p.E84Q|RPL32_ENST00000396953.2_Missense_Mutation_p.E84Q	p.E84Q	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN			3	349	-			84					B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	c.250G>C	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232053	0.79688	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	3.95	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.89478	3.035	0.80722	D	1	D	0.56287	0.975	P	0.59546	0.859	T	0.79001	-0.1981	9	0.87932	D	0	-3.9662	9.2685	0.37657	0.0:0.8916:0.0:0.1084	.	84	P62910	RL32_HUMAN	Q	84;84;102;84;84;84	.	ENSP00000339064:E102Q	E	-	1	0	RPL32	12855876	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.400000	0.79949	0.853000	0.35312	-0.373000	0.07131	GAG		0.498	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		39	137	0	0	0	1	0	39	137				
CHMP7	91782	broad.mit.edu	37	8	23112769	23112769	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:23112769G>A	ENST00000397677.1	+	4	1129	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E161K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	161					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGAAAAGGCTGAGGAGGTGTA	0.577																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(481-483)Gag>Aag		charged multivesicular body protein 7							67.0	60.0	62.0					8																	23112769		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23112769G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.481G>A	8.37:g.23112769G>A	ENSP00000380794:p.Glu161Lys					CHMP7_ENST00000313219.7_Missense_Mutation_p.E161K	p.E161K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	1129	+		Prostate(55;0.0513)	161					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.481G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177491	0.57692	.	.	ENSG00000147457	ENST00000397677;ENST00000313219;ENST00000519984	T;T	0.59224	0.28;0.28	5.79	5.79	0.91817	.	0.103647	0.64402	D	0.000007	T	0.49029	0.1533	L	0.33485	1.01	0.42739	D	0.99373	P;B	0.52842	0.956;0.013	B;B	0.44224	0.444;0.005	T	0.42649	-0.9439	10	0.08837	T	0.75	-24.7399	18.586	0.91189	0.0:0.0:1.0:0.0	.	51;161	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	K	161;161;174	ENSP00000380794:E161K;ENSP00000324491:E161K	ENSP00000324491:E161K	E	+	1	0	CHMP7	23168714	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	6.292000	0.72725	2.726000	0.93360	0.655000	0.94253	GAG		0.577	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		9	34	0	0	0	1	0	9	34				
MYH7	4625	broad.mit.edu	37	14	23886113	23886113	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23886113C>T	ENST00000355349.3	-	33	4770	c.4608G>A	c.(4606-4608)gaG>gaA	p.E1536E	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1536					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCATCTTCTCGGCCTCCA	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4606-4608)gaG>gaA		myosin, heavy chain 7, cardiac muscle, beta							106.0	87.0	93.0					14																	23886113		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886113C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4608G>A	14.37:g.23886113C>T							p.E1536E	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	33	4770	-	all_cancers(95;2.54e-05)		1536					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4608G>A	CCDS9601.1																																																																																				0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	80	0	0	0	1	0	20	80				
HAX1	10456	broad.mit.edu	37	1	154246309	154246309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154246309C>T	ENST00000328703.7	+	3	589	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	HAX1_ENST00000483970.2_Missense_Mutation_p.R134W|HAX1_ENST00000457918.2_Missense_Mutation_p.R78W|HAX1_ENST00000532105.1_5'UTR	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	126	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAGACACTTCGGGACTCAAT	0.542									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(376-378)Cgg>Tgg		HCLS1 associated protein X-1							97.0	102.0	101.0					1																	154246309		2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246309C>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.376C>T	1.37:g.154246309C>T	ENSP00000329002:p.Arg126Trp					HAX1_ENST00000483970.2_Missense_Mutation_p.R134W|HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000457918.2_Missense_Mutation_p.R78W	p.R126W	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	589	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		126			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.376C>T	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381650	0.61845	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970	T;T;T	0.45276	0.9;0.9;0.9	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.80183	2.485	0.80722	D	1	P;B;B;P	0.38745	0.588;0.389;0.263;0.645	B;B;B;B	0.31869	0.103;0.083;0.046;0.137	T	0.49263	-0.8958	10	0.87932	D	0	-1.185	16.6575	0.85232	0.0:1.0:0.0:0.0	.	134;100;78;126	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	W	126;78;134	ENSP00000329002:R126W;ENSP00000411448:R78W;ENSP00000435088:R134W	ENSP00000329002:R126W	R	+	1	2	HAX1	152512933	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.657000	0.46724	2.708000	0.92522	0.563000	0.77884	CGG		0.542	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		8	162	0	0	0	1	0	8	162				
TNIP2	79155	broad.mit.edu	37	4	2746661	2746661	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:2746661G>C	ENST00000315423.7	-	4	755	c.669C>G	c.(667-669)ctC>ctG	p.L223L	TNIP2_ENST00000510267.1_Silent_p.L116L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCATTGAGGTCTTCAA	0.587																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(346-348)ctC>ctG		TNFAIP3 interacting protein 2							43.0	38.0	39.0					4																	2746661		2202	4297	6499	SO:0001819	synonymous_variant	79155					cytosol	protein binding	g.chr4:2746661G>C	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.669C>G	4.37:g.2746661G>C						TNIP2_ENST00000315423.7_Silent_p.L223L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	p.L116L	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	775	-			223						Silent	SNP	ENST00000315423.7	37	c.348C>G	CCDS3362.1																																																																																				0.587	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		5	54	0	0	0	1	0	5	54				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	40	0	0	0	1	0	4	40				
LINC00886	730091	broad.mit.edu	37	3	156527299	156527299	+	lincRNA	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:156527299G>A	ENST00000472943.1	-	0	148					NR_038387.1				long intergenic non-protein coding RNA 886																		GTGGGAAGGGGATGAGGCAGG	0.602																																						ENST00000472943.1																			0																																																			730091							g.chr3:156527299G>A			3q25.31	2013-05-17			ENSG00000240875	ENSG00000240875		"""Long non-coding RNAs"""	48572	non-coding RNA	RNA, long non-coding							Standard	NR_038387		Approved				OTTHUMG00000158647		3.37:g.156527299G>A								NR_038387.1						0	148	-									RNA	SNP	ENST00000472943.1	37																																																																																						0.602	LINC00886-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351622.1			10	32	0	0	0	1	0	10	32				
MLLT4	4301	broad.mit.edu	37	6	168319465	168319465	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:168319465G>A	ENST00000447894.2	+	20	2739	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	MLLT4_ENST00000392108.3_Silent_p.L913L|MLLT4_ENST00000344191.4_Silent_p.L913L|MLLT4_ENST00000351017.4_Silent_p.L920L|MLLT4_ENST00000400822.3_Silent_p.L912L|MLLT4_ENST00000366806.2_Silent_p.L913L|MLLT4_ENST00000392112.1_Silent_p.L897L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	913					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGATGAGCTGGCCCGCAGTG	0.458			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2737-2739)ctG>ctA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							107.0	98.0	101.0					6																	168319465		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168319465G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2739G>A	6.37:g.168319465G>A						MLLT4_ENST00000400822.3_Silent_p.L912L|MLLT4_ENST00000392108.3_Silent_p.L913L|MLLT4_ENST00000392112.1_Silent_p.L897L|MLLT4_ENST00000351017.4_Silent_p.L920L|MLLT4_ENST00000447894.2_Silent_p.L913L|MLLT4_ENST00000344191.4_Silent_p.L913L	p.L913L			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	20	2881	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	913					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2739G>A																																																																																					0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		14	51	0	0	0	1	0	14	51				
CDK5	1020	broad.mit.edu	37	7	150752435	150752435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:150752435G>A	ENST00000485972.1	-	8	1190	c.509C>T	c.(508-510)cCg>cTg	p.P170L	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Missense_Mutation_p.P138L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GAGGACATCCGGTGGGCGGTA	0.612																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(508-510)cCg>cTg		cyclin-dependent kinase 5							66.0	71.0	69.0					7																	150752435		1997	4162	6159	SO:0001583	missense	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150752435G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.509C>T	7.37:g.150752435G>A	ENSP00000419782:p.Pro170Leu					CDK5_ENST00000297518.4_Missense_Mutation_p.P138L	p.P170L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	8	1190	-		Breast(660;0.159)|Ovarian(593;0.182)	170			Protein kinase.		A1XKG3	Missense_Mutation	SNP	ENST00000485972.1	37	c.509C>T	CCDS47748.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854632	0.91355	.	.	ENSG00000164885	ENST00000485972;ENST00000297518	D;D	0.82893	-1.66;-1.66	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92418	0.5943	10	0.87932	D	0	-19.7892	15.346	0.74337	0.0:0.0:1.0:0.0	.	138;170	Q00535-2;Q00535	.;CDK5_HUMAN	L	170;138	ENSP00000419782:P170L;ENSP00000297518:P138L	ENSP00000297518:P138L	P	-	2	0	CDK5	150383368	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.752000	0.91632	2.550000	0.86006	0.561000	0.74099	CCG		0.612	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			15	35	0	0	0	1	0	15	35				
ANK3	288	broad.mit.edu	37	10	61874040	61874040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61874040C>T	ENST00000280772.2	-	26	3082	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N	ANK3_ENST00000355288.2_Missense_Mutation_p.S98N|ANK3_ENST00000503366.1_Missense_Mutation_p.S965N|ANK3_ENST00000373827.2_Missense_Mutation_p.S958N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	964					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGCCCAGCTGTAATGTCT	0.348																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2890-2892)aGc>aAc		ankyrin 3, node of Ranvier (ankyrin G)							89.0	82.0	85.0					10																	61874040		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61874040C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2891G>A	10.37:g.61874040C>T	ENSP00000280772:p.Ser964Asn					ANK3_ENST00000503366.1_Missense_Mutation_p.S965N|ANK3_ENST00000373827.2_Missense_Mutation_p.S958N|ANK3_ENST00000355288.2_Missense_Mutation_p.S98N	p.S964N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			26	3082	-			964					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2891G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254540	0.80135	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049	T;T;T;T;T	0.69435	-0.35;-0.32;0.22;-0.4;0.63	5.48	5.48	0.80851	.	0.000000	0.46758	D	0.000280	D	0.84547	0.5496	M	0.86028	2.79	0.80722	D	1	B;D;P;D;D;D;D	0.89917	0.017;0.997;0.611;0.994;0.997;1.0;0.967	B;D;B;P;D;D;P	0.91635	0.017;0.985;0.149;0.824;0.986;0.999;0.878	D	0.86711	0.1936	10	0.87932	D	0	.	19.3521	0.94393	0.0:1.0:0.0:0.0	.	965;98;486;958;964;199;98	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	N	964;958;98;98;965;944;199;599;599;97;486;89;89	ENSP00000280772:S964N;ENSP00000362933:S958N;ENSP00000347436:S98N;ENSP00000425236:S965N;ENSP00000362921:S89N	ENSP00000280772:S964N	S	-	2	0	ANK3	61544046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.561000	0.86390	0.655000	0.94253	AGC		0.348	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	41	0	0	0	1	0	4	41				
AQR	9716	broad.mit.edu	37	15	35185891	35185891	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:35185891C>T	ENST00000156471.5	-	23	2769	c.2544G>A	c.(2542-2544)agG>agA	p.R848R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	848					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATTAGAGTCCTCTGTTCTG	0.463																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2542-2544)agG>agA		aquarius intron-binding spliceosomal factor							248.0	254.0	252.0					15																	35185891		2005	4161	6166	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185891C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2544G>A	15.37:g.35185891C>T							p.R848R	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2769	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	848					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.2544G>A	CCDS42013.1																																																																																				0.463	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		8	104	0	0	0	1	0	8	104				
UTP20	27340	broad.mit.edu	37	12	101776993	101776993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:101776993G>A	ENST00000261637.4	+	59	8005	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2611					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGAGGTGAAGGAAGAGCTCGG	0.522																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7831-7833)Gaa>Aaa		UTP20, small subunit (SSU) processome component, homolog (yeast)							61.0	69.0	66.0					12																	101776993		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101776993G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7831G>A	12.37:g.101776993G>A	ENSP00000261637:p.Glu2611Lys						p.E2611K	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			59	8005	+			2611					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7831G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889372	0.33348	.	.	ENSG00000120800	ENST00000261637	T	0.04406	3.63	5.46	1.61	0.23674	.	0.594375	0.15982	N	0.235221	T	0.03827	0.0108	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.48559	-0.9025	10	0.10111	T	0.7	-0.0052	6.9835	0.24715	0.1958:0.2304:0.5739:0.0	.	2611	O75691	UTP20_HUMAN	K	2611	ENSP00000261637:E2611K	ENSP00000261637:E2611K	E	+	1	0	UTP20	100301124	0.984000	0.35163	0.000000	0.03702	0.003000	0.03518	3.718000	0.54919	0.029000	0.15352	0.643000	0.83706	GAA		0.522	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	42	0	0	0	1	0	7	42				
SRRM4	84530	broad.mit.edu	37	12	119594311	119594311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:119594311G>A	ENST00000267260.4	+	13	1932	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	515	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCCGGAAACGCCCCATCCCC	0.672																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1543-1545)cGc>cAc		serine/arginine repetitive matrix 4							21.0	26.0	24.0					12																	119594311		2011	4173	6184	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119594311G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1544G>A	12.37:g.119594311G>A	ENSP00000267260:p.Arg515His						p.R515H	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			13	1932	+			515			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1544G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	36	5.705133	0.96812	.	.	ENSG00000139767	ENST00000267260	T	0.65364	-0.15	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.77170	0.4091	L	0.58101	1.795	0.51012	D	0.999907	D	0.89917	1.0	D	0.91635	0.999	T	0.75127	-0.3427	9	.	.	.	-20.9303	19.3389	0.94334	0.0:0.0:1.0:0.0	.	515	A7MD48	SRRM4_HUMAN	H	515	ENSP00000267260:R515H	.	R	+	2	0	SRRM4	118078694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.948000	0.93006	2.575000	0.86900	0.655000	0.94253	CGC		0.672	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		8	32	0	0	0	1	0	8	32				
C3orf67	200844	broad.mit.edu	37	3	58728270	58728270	+	Missense_Mutation	SNP	C	C	T	rs139831294	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:58728270C>T	ENST00000482387.1	-	13	2083	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	C3orf67_ENST00000295966.7_Missense_Mutation_p.E537K			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	663										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGTACTTCCTCGTCCTCTTCC	0.502													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21088	0.0		0.0	False		,,,				2504	0.0					ENST00000295966.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1609-1611)Gag>Aag		chromosome 3 open reading frame 67		C	LYS/GLU	10,4396	16.8+/-37.8	0,10,2193	138.0	112.0	121.0		1609	5.6	1.0	3	dbSNP_134	121	0,8600		0,0,4300	yes	missense	C3orf67	NM_198463.2	56	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	537/564	58728270	10,12996	2203	4300	6503	SO:0001583	missense	200844							g.chr3:58728270C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1987G>A	3.37:g.58728270C>T	ENSP00000417122:p.Glu663Lys					C3orf67_ENST00000482387.1_Missense_Mutation_p.E663K	p.E537K	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	16	2112	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	532					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.242066	0.95272	0.00227	0.0	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.28666	1.67;1.6	5.55	5.55	0.83447	.	0.060454	0.64402	D	0.000005	T	0.51991	0.1707	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	T	0.47341	-0.9125	10	0.66056	D	0.02	-15.1315	19.6982	0.96039	0.0:1.0:0.0:0.0	.	537;663	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	K	537;663	ENSP00000295966:E537K;ENSP00000417122:E663K	ENSP00000295966:E537K	E	-	1	0	C3orf67	58703310	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.278000	0.58946	2.894000	0.99253	0.655000	0.94253	GAG		0.502	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		5	42	0	0	0	1	0	5	42				
LAMP3	27074	broad.mit.edu	37	3	182870195	182870195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:182870195G>A	ENST00000265598.3	-	3	1111	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q262*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	286					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATCCGCCCTGAAAATTCAAC	0.502																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(856-858)Cag>Tag		lysosomal-associated membrane protein 3							138.0	148.0	145.0					3																	182870195		2203	4300	6503	SO:0001587	stop_gained	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870195G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.856C>T	3.37:g.182870195G>A	ENSP00000265598:p.Gln286*					LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q262*	p.Q286*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1111	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		286					D3DNS4|O94781|Q8NEC8	Nonsense_Mutation	SNP	ENST00000265598.3	37	c.856C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521184	0.97633	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	.	.	.	5.38	3.48	0.39840	.	1.082580	0.07123	N	0.844299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.4764	6.3719	0.21485	0.0926:0.0:0.7269:0.1805	.	.	.	.	X	286;262	.	ENSP00000265598:Q286X	Q	-	1	0	LAMP3	184352889	0.923000	0.31300	0.869000	0.34112	0.659000	0.38960	1.253000	0.32886	1.416000	0.47057	0.555000	0.69702	CAG		0.502	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			76	213	0	0	0	1	0	76	213				
TULP3	7289	broad.mit.edu	37	12	3031505	3031505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:3031505G>A	ENST00000448120.2	+	4	382	c.331G>A	c.(331-333)Gat>Aat	p.D111N	TULP3_ENST00000397132.2_Missense_Mutation_p.D111N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	111					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGGAAGAAGATGCTGAAAA	0.458																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(331-333)Gat>Aat		tubby like protein 3							154.0	138.0	143.0					12																	3031505		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3031505G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.331G>A	12.37:g.3031505G>A	ENSP00000410051:p.Asp111Asn					TULP3_ENST00000397132.2_Missense_Mutation_p.D111N	p.D111N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	382	+			111					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.331G>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765853	0.31228	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92249	-2.97;-3.0	4.77	2.93	0.34026	.	0.730840	0.14345	N	0.325498	D	0.87712	0.6246	L	0.50333	1.59	0.24121	N	0.995809	B;B	0.15473	0.002;0.013	B;B	0.14578	0.003;0.011	T	0.75733	-0.3214	10	0.31617	T	0.26	-17.2844	8.0275	0.30446	0.2683:0.0:0.7317:0.0	.	111;111	O75386;F8WBZ9	TULP3_HUMAN;.	N	92;111;111;111	ENSP00000410051:D111N;ENSP00000380321:D111N	ENSP00000228245:D111N	D	+	1	0	TULP3	2901766	0.188000	0.23250	0.024000	0.17045	0.079000	0.17450	2.503000	0.45407	0.606000	0.29965	0.561000	0.74099	GAT		0.458	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		4	97	0	0	0	1	0	4	97				
ZNF687	57592	broad.mit.edu	37	1	151258894	151258894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151258894C>T	ENST00000368879.2	+	2	225	c.127C>T	c.(127-129)Cca>Tca	p.P43S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGGGAAGCCAGAACCAGG	0.577																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(127-129)Cca>Tca		zinc finger protein 687							65.0	70.0	68.0					1																	151258894		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151258894C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.127C>T	1.37:g.151258894C>T	ENSP00000357874:p.Pro43Ser						p.P43S	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	225	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		43					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.127C>T		.	.	.	.	.	.	.	.	.	.	C	8.929	0.963081	0.18583	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	4.43	3.46	0.39613	.	0.244353	0.21372	N	0.075607	T	0.00412	0.0013	L	0.27053	0.805	0.34212	D	0.674367	P;B;P	0.42296	0.775;0.278;0.705	B;B;B	0.41510	0.356;0.084;0.359	T	0.68629	-0.5358	10	0.31617	T	0.26	.	7.8982	0.29719	0.0:0.7218:0.1788:0.0993	.	43;43;43	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	S	52;43;43;43	ENSP00000336620:P43S;ENSP00000319829:P43S;ENSP00000357874:P43S	ENSP00000319829:P43S	P	+	1	0	ZNF687	149525518	0.789000	0.28775	0.999000	0.59377	0.203000	0.24098	0.916000	0.28651	2.305000	0.77605	0.313000	0.20887	CCA		0.577	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		18	81	0	0	0	1	0	18	81				
PKD1L1	168507	broad.mit.edu	37	7	47976510	47976510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:47976510C>T	ENST00000289672.2	-	4	381	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	111					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTGTTTTTTCATTAACAACA	0.358																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(331-333)Gaa>Aaa		polycystic kidney disease 1 like 1							136.0	141.0	140.0					7																	47976510		2202	4299	6501	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47976510C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.331G>A	7.37:g.47976510C>T	ENSP00000289672:p.Glu111Lys						p.E111K	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			4	381	-			111					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.331G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	8.350	0.830628	0.16820	.	.	ENSG00000158683	ENST00000289672	T	0.23348	1.91	2.93	-4.44	0.03557	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	9	0.32370	T	0.25	1.8493	4.51	0.11906	0.1583:0.2922:0.0:0.5494	.	111	Q8TDX9	PK1L1_HUMAN	K	111	ENSP00000289672:E111K	ENSP00000289672:E111K	E	-	1	0	PKD1L1	47943035	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.888000	0.01616	-1.149000	0.02843	0.479000	0.44913	GAA		0.358	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		24	92	0	0	0	1	0	24	92				
EVPL	2125	broad.mit.edu	37	17	74005481	74005481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74005481C>T	ENST00000301607.3	-	22	4058	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1291K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1269	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGTCGATCTCACGCAGCACC	0.672																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3805-3807)Gag>Aag		envoplakin							97.0	84.0	88.0					17																	74005481		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005481C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3805G>A	17.37:g.74005481C>T	ENSP00000301607:p.Glu1269Lys					EVPL_ENST00000586740.1_Missense_Mutation_p.E1291K	p.E1269K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4058	-			1269			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3805G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128057	0.94473	.	.	ENSG00000167880	ENST00000301607	T	0.55760	0.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82000	-0.0674	10	0.87932	D	0	-38.6614	18.8137	0.92070	0.0:1.0:0.0:0.0	.	1291;1269	B7ZLH8;Q92817	.;EVPL_HUMAN	K	1269	ENSP00000301607:E1269K	ENSP00000301607:E1269K	E	-	1	0	EVPL	71517076	1.000000	0.71417	0.932000	0.37286	0.784000	0.44337	7.818000	0.86416	2.463000	0.83235	0.555000	0.69702	GAG		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		30	108	0	0	0	1	0	30	108				
VIL1	7429	broad.mit.edu	37	2	219289018	219289018	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219289018G>T	ENST00000248444.5	+	3	182	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	VIL1_ENST00000440053.1_Missense_Mutation_p.V32F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	32	Core.|Necessary for homodimerization.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGTGCCTGTTCCTTCCAG	0.617																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(94-96)Gtt>Ttt		villin 1							104.0	94.0	97.0					2																	219289018		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219289018G>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.94G>T	2.37:g.219289018G>T	ENSP00000248444:p.Val32Phe					VIL1_ENST00000440053.1_Missense_Mutation_p.V32F|VIL1_ENST00000392114.2_Intron	p.V32F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	182	+		Renal(207;0.0474)	32			Core.|Necessary for homodimerization.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.94G>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095000	0.76870	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.58797	0.31;0.31;0.31	4.38	4.38	0.52667	Gelsolin domain (1);	0.197834	0.33895	N	0.004453	T	0.77711	0.4171	M	0.84156	2.68	0.53688	D	0.999972	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.954	T	0.82489	-0.0432	10	0.87932	D	0	-13.1224	17.1253	0.86712	0.0:0.0:1.0:0.0	.	32;32	Q96AC8;P09327	.;VILI_HUMAN	F	32	ENSP00000248444:V32F;ENSP00000412657:V32F;ENSP00000409270:V32F	ENSP00000248444:V32F	V	+	1	0	VIL1	218997262	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	6.261000	0.72509	2.283000	0.76528	0.313000	0.20887	GTT		0.617	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		13	55	1	0	2.32078e-09	1	2.4191e-09	13	55				
NNT	23530	broad.mit.edu	37	5	43659398	43659398	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:43659398C>T	ENST00000264663.5	+	17	2801	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	NNT_ENST00000512996.2_Silent_p.I729I|NNT_ENST00000344920.4_Silent_p.I860I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	860					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGCTGACCATCGTGGGTGCAC	0.507																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2578-2580)atC>atT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						131.0	115.0	120.0					5																	43659398		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659398C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2580C>T	5.37:g.43659398C>T						NNT_ENST00000344920.4_Silent_p.I860I|NNT_ENST00000512996.2_Silent_p.I729I	p.I860I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			17	2801	+	Lung NSC(6;2.58e-06)		860					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2580C>T	CCDS3949.1																																																																																				0.507	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		14	41	0	0	0	1	0	14	41				
CHRM3	1131	broad.mit.edu	37	1	240071392	240071392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:240071392G>C	ENST00000255380.4	+	5	1420	c.641G>C	c.(640-642)aGa>aCa	p.R214T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	214					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTGGAAAGAGAACTGTGCCT	0.493																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(640-642)aGa>aCa		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						172.0	177.0	175.0					1																	240071392		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071392G>C	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.641G>C	1.37:g.240071392G>C	ENSP00000255380:p.Arg214Thr						p.R214T	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1420	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	214					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.641G>C	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210508	0.79240	.	.	ENSG00000133019	ENST00000255380	T	0.36878	1.23	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55431	-0.8142	10	0.66056	D	0.02	-16.8243	20.0435	0.97601	0.0:0.0:1.0:0.0	.	214	P20309	ACM3_HUMAN	T	214	ENSP00000255380:R214T	ENSP00000255380:R214T	R	+	2	0	CHRM3	238138015	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	AGA		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		41	157	0	0	0	1	0	41	157				
ADAP2	55803	broad.mit.edu	37	17	29283366	29283366	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:29283366C>T	ENST00000330889.3	+	10	1325	c.990C>T	c.(988-990)ctC>ctT	p.L330L	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Silent_p.L336L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	330	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAGCCGGACTCACCATTGTCA	0.567																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(988-990)ctC>ctT		ArfGAP with dual PH domains 2							90.0	76.0	81.0					17																	29283366		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29283366C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.990C>T	17.37:g.29283366C>T						ADAP2_ENST00000580525.1_Silent_p.L336L|AC091177.1_ENST00000442757.1_RNA	p.L330L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			10	1325	+			330			PH 2.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.990C>T	CCDS11261.1																																																																																				0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		12	60	0	0	0	1	0	12	60				
SLC27A1	376497	broad.mit.edu	37	19	17615340	17615340	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598424.1_Silent_p.F441F|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1858-1860)ttC>ttT		solute carrier family 27 (fatty acid transporter), member 1							84.0	72.0	76.0					19																	17615340		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615340C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1860C>T	19.37:g.17615340C>T						CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598424.1_Silent_p.F441F	p.F620F	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			12	1957	+			620					A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1860C>T	CCDS32953.1																																																																																				0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		21	88	0	0	0	1	0	21	88				
TIMD4	91937	broad.mit.edu	37	5	156381553	156381553	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156381553C>T	ENST00000274532.2	-	2	329	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TIMD4_ENST00000407087.3_Silent_p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	91	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(271-273)ccG>ccA		T-cell immunoglobulin and mucin domain containing 4							112.0	100.0	104.0					5																	156381553		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381553C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.273G>A	5.37:g.156381553C>T						TIMD4_ENST00000407087.3_Silent_p.P91P	p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	329	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	91			Ig-like V-type.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.273G>A	CCDS4332.1																																																																																				0.517	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		15	57	0	0	0	1	0	15	57				
SPECC1	92521	broad.mit.edu	37	17	20108932	20108932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:20108932G>C	ENST00000261503.5	+	4	1621	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Missense_Mutation_p.E443Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.E524Q|SPECC1_ENST00000395529.3_Missense_Mutation_p.E524Q|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395530.2_Missense_Mutation_p.E443Q|SPECC1_ENST00000395525.3_Missense_Mutation_p.E443Q	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	524					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGAGTTTCTAGAACTGGAACG	0.388																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1327-1329)Gaa>Caa		sperm antigen with calponin homology and coiled-coil domains 1							75.0	77.0	76.0					17																	20108932		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108932G>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1570G>C	17.37:g.20108932G>C	ENSP00000261503:p.Glu524Gln					SPECC1_ENST00000261503.5_Missense_Mutation_p.E524Q|SPECC1_ENST00000395529.3_Missense_Mutation_p.E524Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.E524Q|SPECC1_ENST00000395522.2_Missense_Mutation_p.E443Q|SPECC1_ENST00000536879.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.E443Q	p.E443Q	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1535	+			524					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1327G>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343185	0.82022	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.69685	-0.42;2.57;2.59;2.59	5.59	5.59	0.84812	.	0.174605	0.64402	D	0.000007	T	0.76863	0.4047	M	0.68952	2.095	0.80722	D	1	D;P;P;P;D	0.55385	0.971;0.911;0.954;0.954;0.971	P;P;P;P;P	0.54965	0.752;0.665;0.765;0.765;0.752	T	0.78720	-0.2094	10	0.72032	D	0.01	-26.2514	17.4622	0.87622	0.0:0.0:1.0:0.0	.	524;443;443;524;524	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	Q	524;524;524;443;443;443	ENSP00000261503:E524Q;ENSP00000378900:E524Q;ENSP00000378893:E443Q;ENSP00000378896:E443Q	ENSP00000261503:E524Q	E	+	1	0	SPECC1	20049524	1.000000	0.71417	0.367000	0.25926	0.953000	0.61014	6.128000	0.71650	2.808000	0.96608	0.655000	0.94253	GAA		0.388	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		25	90	0	0	0	1	0	25	90				
ASXL3	80816	broad.mit.edu	37	18	31325454	31325454	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31325454A>G	ENST00000269197.5	+	12	5642	c.5642A>G	c.(5641-5643)aAg>aGg	p.K1881R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGCTAAACAAGCACTCCATG	0.498																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5641-5643)aAg>aGg		additional sex combs like 3 (Drosophila)							178.0	180.0	179.0					18																	31325454		2065	4202	6267	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325454A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5642A>G	18.37:g.31325454A>G	ENSP00000269197:p.Lys1881Arg						p.K1881R	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5642	+			1881					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5642A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.934036	0.34096	.	.	ENSG00000141431	ENST00000269197	T	0.22945	1.93	5.58	4.44	0.53790	.	.	.	.	.	T	0.17874	0.0429	L	0.27053	0.805	0.35169	D	0.771413	B	0.21225	0.053	B	0.17722	0.019	T	0.14727	-1.0462	9	0.30854	T	0.27	.	10.9315	0.47220	0.927:0.0:0.073:0.0	.	1881	Q9C0F0	ASXL3_HUMAN	R	1881	ENSP00000269197:K1881R	ENSP00000269197:K1881R	K	+	2	0	ASXL3	29579452	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	2.557000	0.45871	2.113000	0.64589	0.528000	0.53228	AAG		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			36	226	0	0	0	1	0	36	226				
KIF5C	3800	broad.mit.edu	37	2	149803513	149803513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:149803513G>T	ENST00000435030.1	+	8	1058	c.690G>T	c.(688-690)ttG>ttT	p.L230F	KIF5C_ENST00000414838.2_Missense_Mutation_p.L135F|KIF5C_ENST00000397413.1_5'Flank			O60282	KIF5C_HUMAN	kinesin family member 5C	230	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACTTTATTTGGTTGATTTGG	0.308																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(688-690)ttG>ttT		kinesin family member 5C							76.0	68.0	70.0					2																	149803513		1803	4081	5884	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149803513G>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.690G>T	2.37:g.149803513G>T	ENSP00000393379:p.Leu230Phe					KIF5C_ENST00000414838.2_Missense_Mutation_p.L135F	p.L230F			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	8	1058	+			230			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.690G>T		.	.	.	.	.	.	.	.	.	.	G	21.3	4.122062	0.77436	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	D;D	0.85702	-2.02;-2.02	5.34	3.41	0.39046	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91436	0.5170	9	0.87932	D	0	.	11.484	0.50342	0.1123:0.0:0.8877:0.0	.	230	O60282	KIF5C_HUMAN	F	230;135;133	ENSP00000393379:L230F;ENSP00000410115:L135F	ENSP00000334176:L133F	L	+	3	2	KIF5C	149511759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	0.808000	0.34231	0.650000	0.86243	TTG		0.308	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		5	19	1	0	1.23904e-05	1	1.27029e-05	5	19				
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(22-24)tCa>tTa		solute carrier family 39 (zinc transporter), member 12							119.0	120.0	120.0					10																	18242228		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242228C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.23C>T	10.37:g.18242228C>T	ENSP00000366586:p.Ser8Leu					SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L	p.S8L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			2	296	+			8					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.23C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741461	0.15642	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.22134	1.97;1.97;1.97	5.57	1.14	0.20703	.	1.316580	0.04913	N	0.453598	T	0.18593	0.0446	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.31752	-0.9932	10	0.16420	T	0.52	-0.8956	8.7861	0.34821	0.0:0.5279:0.3455:0.1265	.	8;8;8	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	8	ENSP00000366586:S8L;ENSP00000366591:S8L;ENSP00000366588:S8L	ENSP00000366586:S8L	S	+	2	0	SLC39A12	18282234	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.147000	0.10234	0.650000	0.30769	0.655000	0.94253	TCA		0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		21	60	0	0	0	1	0	21	60				
POLG2	11232	broad.mit.edu	37	17	62492767	62492767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62492767C>T	ENST00000539111.2	-	1	387	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	107					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CAGGTTCTTCCGCAACTCTAC	0.602																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(319-321)cGg>cAg		polymerase (DNA directed), gamma 2, accessory subunit							76.0	72.0	74.0					17																	62492767		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492767C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.320G>A	17.37:g.62492767C>T	ENSP00000442563:p.Arg107Gln						p.R107Q	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	387	-	Breast(5;2.15e-14)		107					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.320G>A	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	36	5.684034	0.96774	.	.	ENSG00000256525	ENST00000539111	T	0.81163	-1.46	5.16	4.19	0.49359	.	0.110495	0.56097	D	0.000033	D	0.83848	0.5343	L	0.55990	1.75	0.47511	D	0.999448	D;D	0.89917	1.0;1.0	P;P	0.57679	0.825;0.825	D	0.85646	0.1279	10	0.87932	D	0	-18.633	13.063	0.59018	0.0:0.9224:0.0:0.0776	.	107;107	E5KS15;Q9UHN1	.;DPOG2_HUMAN	Q	107	ENSP00000442563:R107Q	ENSP00000442563:R107Q	R	-	2	0	POLG2	59923229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.251000	0.43187	2.433000	0.82419	0.561000	0.74099	CGG		0.602	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		25	93	0	0	0	1	0	25	93				
C9orf24	84688	broad.mit.edu	37	9	34385641	34385641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34385641C>T	ENST00000297623.2	-	2	472	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	92					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTACCTTCCTCTTGAGAAAGC	0.483																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(274-276)Gag>Aag		chromosome 9 open reading frame 24							66.0	56.0	60.0					9																	34385641		2203	4300	6503	SO:0001583	missense	84688							g.chr9:34385641C>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.274G>A	9.37:g.34385641C>T	ENSP00000297623:p.Glu92Lys						p.E92K	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	2	472	-			92					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	c.274G>A	CCDS6554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282143|2.282143	0.40394|0.40394	.|.	.|.	ENSG00000164972|ENSG00000164972	ENST00000297623|ENST00000444429	T|.	0.48201|.	0.82|.	5.89|5.89	-1.08|-1.08	0.09936|0.09936	.|.	1.204650|.	0.05954|.	N|.	0.639447|.	T|T	0.20210|0.20210	0.0486|0.0486	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|T	0.24870|0.24870	-1.0148|-1.0148	10|5	0.44086|.	T|.	0.13|.	0.0193|0.0193	1.3937|1.3937	0.02256|0.02256	0.2827:0.3184:0.2455:0.1534|0.2827:0.3184:0.2455:0.1534	.|.	92|.	Q8NCR6|.	CI024_HUMAN|.	K|K	92|57	ENSP00000297623:E92K|.	ENSP00000297623:E92K|.	E|R	-|-	1|2	0|0	C9orf24|C9orf24	34375641|34375641	0.001000|0.001000	0.12720|0.12720	0.833000|0.833000	0.33012|0.33012	0.921000|0.921000	0.55340|0.55340	0.028000|0.028000	0.13644|0.13644	-0.163000|-0.163000	0.10946|0.10946	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.483	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		14	41	0	0	0	1	0	14	41				
NSMCE2	286053	broad.mit.edu	37	8	126370029	126370029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:126370029G>C	ENST00000287437.3	+	7	811	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NSMCE2_ENST00000522563.1_Missense_Mutation_p.E199Q|NSMCE2_ENST00000517315.1_Missense_Mutation_p.E139Q	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	199					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCGCATGATTGAGTCCAGGCA	0.498																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(595-597)Gag>Cag		non-SMC element 2, MMS21 homolog (S. cerevisiae)							117.0	94.0	101.0					8																	126370029		2203	4300	6503	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126370029G>C	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.595G>C	8.37:g.126370029G>C	ENSP00000287437:p.Glu199Gln					NSMCE2_ENST00000522563.1_Missense_Mutation_p.E199Q|NSMCE2_ENST00000517315.1_Missense_Mutation_p.E139Q	p.E199Q	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		7	811	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		199					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.595G>C	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	G	8.675	0.903739	0.17760	.	.	ENSG00000156831	ENST00000287437;ENST00000522563;ENST00000517315	T;T;T	0.44083	0.93;0.93;0.94	5.43	4.49	0.54785	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.198425	0.44097	D	0.000498	T	0.22859	0.0552	N	0.05554	-0.025	0.33543	D	0.595077	B	0.24882	0.113	B	0.26517	0.07	T	0.22836	-1.0205	9	.	.	.	.	12.7919	0.57539	0.0:0.2666:0.7334:0.0	.	199	Q96MF7	NSE2_HUMAN	Q	199;199;139	ENSP00000287437:E199Q;ENSP00000430668:E199Q;ENSP00000428846:E139Q	.	E	+	1	0	NSMCE2	126439211	0.998000	0.40836	1.000000	0.80357	0.281000	0.26958	2.821000	0.48065	2.712000	0.92718	0.484000	0.47621	GAG		0.498	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		11	49	0	0	0	1	0	11	49				
MUC16	94025	broad.mit.edu	37	19	9067695	9067695	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9067695T>C	ENST00000397910.4	-	3	19954	c.19751A>G	c.(19750-19752)gAg>gGg	p.E6584G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6586	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACATTTTCTCTGTATCTTT	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19750-19752)gAg>gGg		mucin 16, cell surface associated							163.0	144.0	150.0					19																	9067695		1902	4126	6028	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067695T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19751A>G	19.37:g.9067695T>C	ENSP00000381008:p.Glu6584Gly						p.E6584G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	19954	-			6586			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19751A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.748	-0.052252	0.07362	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	1.98	0.903	0.19296	.	.	.	.	.	T	0.25791	0.0628	L	0.39898	1.24	.	.	.	B	0.24920	0.114	B	0.19666	0.026	T	0.25187	-1.0139	8	0.87932	D	0	.	4.955	0.14035	0.0:0.0:0.3179:0.6821	.	6584	B5ME49	.	G	6584	ENSP00000381008:E6584G	ENSP00000381008:E6584G	E	-	2	0	MUC16	8928695	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.003000	0.03682	0.201000	0.20466	0.149000	0.16113	GAG		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	91	0	0	0	1	0	30	91				
TRAK1	22906	broad.mit.edu	37	3	42264824	42264824	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:42264824G>A	ENST00000327628.5	+	16	2857	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	TRAK1_ENST00000396175.1_Silent_p.L761L|TRAK1_ENST00000487159.1_3'UTR|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	819					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTCCATCCTGAGGGAAGTGA	0.577																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2455-2457)ctG>ctA		trafficking protein, kinesin binding 1							42.0	48.0	46.0					3																	42264824		2008	4170	6178	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264824G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2457G>A	3.37:g.42264824G>A						TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.L761L	p.L819L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			16	2857	+			819					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.2457G>A	CCDS43072.1																																																																																				0.577	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	47	0	0	0	1	0	7	47				
IPO7	10527	broad.mit.edu	37	11	9462001	9462001	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462001G>A	ENST00000379719.3	+	23	2837		c.e23-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGACTTGGCAGAGGAACTGGG	0.358																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e23-1		importin 7							77.0	74.0	75.0					11																	9462001		2201	4294	6495	SO:0001630	splice_region_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9462001G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2696-1G>A	11.37:g.9462001G>A								NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	23	2837	+								A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	ENST00000379719.3	37		CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300345	0.81136	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.039	0.97573	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9418577	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.901000	0.87382	2.808000	0.96608	0.552000	0.68991	.		0.358	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	Intron	7	52	0	0	0	1	0	7	52				
MYO7B	4648	broad.mit.edu	37	2	128322843	128322843	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:128322843C>G	ENST00000409816.2	+	3	200	c.168C>G	c.(166-168)ctC>ctG	p.L56L	MYO7B_ENST00000389524.4_Silent_p.L56L|MYO7B_ENST00000428314.1_Silent_p.L56L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	56						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTGGTGTCCTCAGTCCCATGC	0.622																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(166-168)ctC>ctG		myosin VIIB							62.0	71.0	68.0					2																	128322843		2081	4214	6295	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128322843C>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.168C>G	2.37:g.128322843C>G						MYO7B_ENST00000428314.1_Silent_p.L56L|MYO7B_ENST00000409816.2_Silent_p.L56L	p.L56L			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	4	221	+	Colorectal(110;0.1)		56					Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.168C>G	CCDS46405.1																																																																																				0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	29	0	0	0	1	0	5	29				
RMI1	80010	broad.mit.edu	37	9	86616414	86616414	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86616414A>G	ENST00000325875.3	+	3	845	c.513A>G	c.(511-513)ggA>ggG	p.G171G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	171					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGATTTATGGAAATATATCTT	0.358																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(511-513)ggA>ggG		RecQ mediated genome instability 1							57.0	60.0	59.0					9																	86616414		2202	4298	6500	SO:0001819	synonymous_variant	80010				DNA replication	nucleus		g.chr9:86616414A>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.513A>G	9.37:g.86616414A>G							p.G171G	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	845	+			171					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	c.513A>G	CCDS6669.1																																																																																				0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		12	44	0	0	0	1	0	12	44				
ADAMTS10	81794	broad.mit.edu	37	19	8670115	8670115	+	Missense_Mutation	SNP	C	C	T	rs61750006	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8670115C>T	ENST00000597188.1	-	4	487	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E73K|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	73						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGCGGGACTCGGCTGTGGCC	0.687													C|||	14	0.00279553	0.0015	0.0	5008	,	,		13881	0.0		0.0119	False		,,,				2504	0.0					ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(217-219)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 10		C	LYS/GLU	6,4400		0,6,2197	27.0	26.0	27.0		217	5.2	1.0	19	dbSNP_129	27	65,8527		0,65,4231	yes	missense	ADAMTS10	NM_030957.2	56	0,71,6428	TT,TC,CC		0.7565,0.1362,0.5462	benign	73/1104	8670115	71,12927	2203	4296	6499	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670115C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.217G>A	19.37:g.8670115C>T	ENSP00000471851:p.Glu73Lys					ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E73K	p.E73K			Q9H324	ATS10_HUMAN			3	483	-			73					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.217G>A	CCDS12206.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	C	14.68	2.608370	0.46527	0.001362	0.007565	ENSG00000142303	ENST00000270328	T	0.06608	3.28	5.17	5.17	0.71159	Peptidase M12B, propeptide (1);	0.253556	0.31821	N	0.007005	T	0.05593	0.0147	L	0.42744	1.35	0.53005	D	0.999962	P	0.49559	0.925	P	0.44623	0.455	T	0.31194	-0.9952	10	0.07325	T	0.83	.	17.6601	0.88191	0.0:1.0:0.0:0.0	rs61750006	73	Q9H324	ATS10_HUMAN	K	73	ENSP00000270328:E73K	ENSP00000270328:E73K	E	-	1	0	ADAMTS10	8576115	0.984000	0.35163	0.976000	0.42696	0.653000	0.38743	2.655000	0.46707	2.409000	0.81822	0.491000	0.48974	GAG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		10	35	0	0	0	1	0	10	35				
OR10A4	283297	broad.mit.edu	37	11	6898652	6898652	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6898652C>T	ENST00000379829.2	+	1	797	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	258					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCCATCCTCACGTATTTCC	0.522																																						ENST00000379829.2																			0				kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(772-774)ctC>ctT		olfactory receptor, family 10, subfamily A, member 4							186.0	147.0	160.0					11																	6898652		2201	4296	6497	SO:0001819	synonymous_variant	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898652C>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.774C>T	11.37:g.6898652C>T							p.L258L	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	797	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	258					B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	c.774C>T	CCDS7774.1																																																																																				0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		21	99	0	0	0	1	0	21	99				
NAA20	51126	broad.mit.edu	37	20	20013775	20013775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:20013775G>A	ENST00000334982.4	+	6	762	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CRNKL1_ENST00000521379.1_5'Flank|NAA20_ENST00000310450.4_Silent_p.*112*|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Missense_Mutation_p.E149K	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	161						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						CAGGGATACTGAGAAGAAATC	0.368																																						ENST00000398602.2																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(445-447)Gag>Aag		N(alpha)-acetyltransferase 20, NatB catalytic subunit							138.0	136.0	136.0					20																	20013775		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20013775G>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.481G>A	20.37:g.20013775G>A	ENSP00000335636:p.Glu161Lys					NAA20_ENST00000334982.4_Missense_Mutation_p.E161K|NAA20_ENST00000310450.4_Silent_p.*112*|NAA20_ENST00000484480.1_3'UTR	p.E149K	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			6	1080	+			161			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.445G>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109609	0.56398	.	.	ENSG00000173418	ENST00000334982;ENST00000398602	T;T	0.63417	0.53;-0.04	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	.	.	.	0.80722	D	1	B;B	0.14438	0.01;0.002	B;B	0.12837	0.008;0.003	T	0.43491	-0.9388	8	.	.	.	-23.8596	18.1652	0.89723	0.0:0.0:1.0:0.0	.	149;161	A8MZB2;P61599	.;NAA20_HUMAN	K	161;149	ENSP00000335636:E161K;ENSP00000381603:E149K	.	E	+	1	0	NAA20	19961775	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.396000	0.97270	2.586000	0.87340	0.655000	0.94253	GAG		0.368	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		4	73	0	0	0	1	0	4	73				
GRB14	2888	broad.mit.edu	37	2	165365022	165365022	+	Silent	SNP	G	G	A	rs574967446		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:165365022G>A	ENST00000263915.3	-	8	1504	c.966C>T	c.(964-966)ctC>ctT	p.L322L	GRB14_ENST00000543549.1_Silent_p.L235L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	322	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTGCACAGAGCATTTTCA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16551	0.0		0.0	False		,,,				2504	0.0					ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(964-966)ctC>ctT		growth factor receptor-bound protein 14							89.0	87.0	87.0					2																	165365022		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365022G>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.966C>T	2.37:g.165365022G>A						GRB14_ENST00000543549.1_Silent_p.L235L	p.L322L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			8	1504	-			322			PH.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.966C>T	CCDS2222.1																																																																																				0.473	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			11	43	0	0	0	1	0	11	43				
RYBP	23429	broad.mit.edu	37	3	72428484	72428484	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428484C>G	ENST00000477973.2	-	2	517	c.518G>C	c.(517-519)tGa>tCa	p.*173S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(517-519)tGa>tCa		RING1 and YY1 binding protein							188.0	178.0	181.0					3																	72428484		1849	4093	5942	SO:0001578	stop_lost	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428484C>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.518G>C	3.37:g.72428484C>G	Exception_encountered						p.*173S	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	517	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0			Interaction with E4TF1B.		Q9P2W5|Q9UMW4	Nonstop_Mutation	SNP	ENST00000477973.2	37	c.518G>C		.	.	.	.	.	.	.	.	.	.	C	15.50	2.851883	0.51270	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	L	0.55481	1.735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.657	20.177	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	S	173	.	.	X	-	2	2	RYBP	72511174	0.998000	0.40836	0.962000	0.40283	0.984000	0.73092	3.958000	0.56737	2.854000	0.98071	0.655000	0.94253	TGA		0.418	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		18	53	0	0	0	1	0	18	53				
LATS1	9113	broad.mit.edu	37	6	150004897	150004897	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150004897G>C	ENST00000543571.1	-	4	1875	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCGGGGATGACTGGGCTGG	0.428																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(1327-1329)tCa>tGa		large tumor suppressor kinase 1							167.0	175.0	172.0					6																	150004897		2203	4300	6503	SO:0001587	stop_gained	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004897G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1328C>G	6.37:g.150004897G>C	ENSP00000437550:p.Ser443*					LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR	p.S443*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1875	-		Ovarian(120;0.0164)	443						Nonsense_Mutation	SNP	ENST00000543571.1	37	c.1328C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	37	6.383940	0.97524	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	.	.	.	5.3	5.3	0.74995	.	0.000000	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9092	0.88929	0.0:0.0:1.0:0.0	.	.	.	.	X	443	.	.	S	-	2	0	LATS1	150046590	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.476000	0.97823	2.488000	0.83962	0.655000	0.94253	TCA		0.428	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		59	180	0	0	0	1	0	59	180				
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383																																						ENST00000316059.6																			2	Substitution - Missense(2)	p.E216K(2)	lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(646-648)Gag>Aag		ZFP91 zinc finger protein							129.0	109.0	116.0					11																	58378451		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58378451G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.646G>A	11.37:g.58378451G>A	ENSP00000339030:p.Glu216Lys					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			5	817	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	216			Glu-rich.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.646G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707444	0.89018	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11930	2.73	5.33	5.33	0.75918	.	2.135520	0.01760	N	0.030497	T	0.32496	0.0831	N	0.24115	0.695	0.39695	D	0.971101	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.954	T	0.07539	-1.0767	10	0.44086	T	0.13	-19.8711	17.9574	0.89073	0.0:0.0:1.0:0.0	.	216;216	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	K	216	ENSP00000339030:E216K	ENSP00000374569:E216K	E	+	1	0	ZFP91	58135027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.109000	0.77062	2.771000	0.95319	0.650000	0.86243	GAG		0.383	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		8	41	0	0	0	1	0	8	41				
MCOLN1	57192	broad.mit.edu	37	19	7595342	7595342	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7595342C>T	ENST00000264079.6	+	12	1655	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	510					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATGGTGCTCAGCCTCTTCA	0.632																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1528-1530)ctC>ctT		mucolipin 1							241.0	227.0	232.0					19																	7595342		2203	4300	6503	SO:0001819	synonymous_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595342C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1530C>T	19.37:g.7595342C>T							p.L510L	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1655	+			510					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	c.1530C>T	CCDS12180.1																																																																																				0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		59	252	0	0	0	1	0	59	252				
KCNH7	90134	broad.mit.edu	37	2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:163302755C>G	ENST00000332142.5	-	7	1426	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	443					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E436Q(1)|p.E443Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAGCCACATTCTCGTCTTTTC	0.378																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			2	Substitution - Missense(2)	p.E436Q(1)|p.E443Q(1)	urinary_tract(2)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1327-1329)Gaa>Caa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						94.0	83.0	87.0					2																	163302755		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302755C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1327G>C	2.37:g.163302755C>G	ENSP00000331727:p.Glu443Gln					KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q	p.E443Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			7	1426	-			443					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1327G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543348	0.45280	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.94758	-3.51;-3.51	5.7	5.7	0.88788	.	0.044645	0.85682	D	0.000000	D	0.91740	0.7388	L	0.38531	1.155	0.58432	D	0.999999	B;B	0.16603	0.018;0.017	B;B	0.19946	0.008;0.027	D	0.86936	0.2076	10	0.27082	T	0.32	.	19.8219	0.96602	0.0:1.0:0.0:0.0	.	436;443	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	443;436	ENSP00000331727:E443Q;ENSP00000333781:E436Q	ENSP00000333781:E436Q	E	-	1	0	KCNH7	163011001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.927000	0.63440	2.696000	0.92011	0.650000	0.86243	GAA		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	51	0	0	0	1	0	7	51				
AKR1E2	83592	broad.mit.edu	37	10	4875575	4875575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4875575G>A	ENST00000298375.7	+	3	312	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Missense_Mutation_p.E81K|AKR1E2_ENST00000345253.5_Missense_Mutation_p.E81K|AKR1E2_ENST00000532248.1_Missense_Mutation_p.E81K	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	81						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GTCCTTGGTGGAAACAGCATG	0.532																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(241-243)Gaa>Aaa		aldo-keto reductase family 1, member E2							223.0	189.0	201.0					10																	4875575		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4875575G>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.241G>A	10.37:g.4875575G>A	ENSP00000298375:p.Glu81Lys					AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Missense_Mutation_p.E81K|AKR1E2_ENST00000345253.5_Missense_Mutation_p.E81K|AKR1E2_ENST00000532248.1_Missense_Mutation_p.E81K	p.E81K	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			3	312	+			81					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.241G>A	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.201969	0.01581	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	3.63	-1.48	0.08745	NADP-dependent oxidoreductase domain (3);	0.444408	0.24705	N	0.036275	T	0.06554	0.0168	N	0.01761	-0.735	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.33828	-0.9853	10	0.14252	T	0.57	.	4.7188	0.12909	0.5573:0.1577:0.285:0.0	.	81;81;81;81	Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;AKCL2_HUMAN;.	K	85;81;81;81;81	ENSP00000435436:E85K;ENSP00000298375:E81K;ENSP00000432947:E81K;ENSP00000335034:E81K;ENSP00000335603:E81K	ENSP00000298375:E81K	E	+	1	0	AKR1E2	4865575	0.903000	0.30736	0.005000	0.12908	0.003000	0.03518	1.642000	0.37207	-0.284000	0.09102	-0.415000	0.06103	GAA		0.532	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		29	102	0	0	0	1	0	29	102				
RASGRF2	5924	broad.mit.edu	37	5	80256689	80256689	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:80256689C>T	ENST00000265080.4	+	1	199	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	44	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTGGTTCGCCCTCTACC	0.657																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(130-132)ttC>ttT		Ras protein-specific guanine nucleotide-releasing factor 2							33.0	35.0	34.0					5																	80256689		2202	4300	6502	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80256689C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.132C>T	5.37:g.80256689C>T						CTC-459I6.1_ENST00000505694.1_RNA	p.F44F	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	1	199	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	44			PH 1.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.132C>T	CCDS4052.1																																																																																				0.657	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		17	42	0	0	0	1	0	17	42				
NMT2	9397	broad.mit.edu	37	10	15172229	15172229	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:15172229C>G	ENST00000378165.4	-	7	882	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.E80Q|NMT2_ENST00000378150.1_Missense_Mutation_p.E255Q|NMT2_ENST00000535341.1_Missense_Mutation_p.E255Q	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	268					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTAGTGATCTCTCGGATTAGC	0.463																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(802-804)Gag>Cag		N-myristoyltransferase 2							108.0	99.0	102.0					10																	15172229		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15172229C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.802G>C	10.37:g.15172229C>G	ENSP00000367407:p.Glu268Gln					NMT2_ENST00000540259.1_Missense_Mutation_p.E80Q|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.E255Q|NMT2_ENST00000535341.1_Missense_Mutation_p.E255Q	p.E268Q	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			7	882	-			268					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.802G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310484	0.81358	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.75154	-0.91	5.57	5.57	0.84162	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	H	0.97983	4.12	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.999	D;P;D	0.71656	0.974;0.9;0.956	D	0.94263	0.7504	10	0.87932	D	0	-32.3639	19.98	0.97322	0.0:1.0:0.0:0.0	.	268;255;268	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	Q	268;255;299;80;255	ENSP00000367407:E268Q	ENSP00000367385:E299Q	E	-	1	0	NMT2	15212235	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAG		0.463	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		20	68	0	0	0	1	0	20	68				
EVI5	7813	broad.mit.edu	37	1	92979214	92979214	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:92979214C>G	ENST00000370331.1	-	18	2441	c.2432G>C	c.(2431-2433)tGa>tCa	p.*811S	EVI5_ENST00000540033.1_Nonstop_Mutation_p.*811S|EVI5_ENST00000543509.1_Nonstop_Mutation_p.*822S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	0					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAGTGATGGTCAGACAGTGGT	0.408																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2431-2433)tGa>tCa		ecotropic viral integration site 5							153.0	154.0	154.0					1																	92979214		2203	4300	6503	SO:0001578	stop_lost	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979214C>G	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2432G>C	1.37:g.92979214C>G						EVI5_ENST00000543509.1_Nonstop_Mutation_p.*822S|EVI5_ENST00000540033.1_Nonstop_Mutation_p.*811S	p.*811S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2441	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	0					A6NKX8|B9A6J0|Q9H1Y9	Nonstop_Mutation	SNP	ENST00000370331.1	37	c.2432G>C	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758334	0.96898	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0515	0.89349	0.0:1.0:0.0:0.0	.	.	.	.	S	811;811;822	.	.	X	-	2	2	EVI5	92751802	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.673000	0.68109	2.687000	0.91594	0.650000	0.86243	TGA		0.408	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		24	145	0	0	0	1	0	24	145				
CDC25C	995	broad.mit.edu	37	5	137666860	137666860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:137666860C>T	ENST00000323760.6	-	2	288	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CDC25C_ENST00000415130.2_Missense_Mutation_p.E4K|CDC25C_ENST00000514555.1_Missense_Mutation_p.E4K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E4K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E4K|CDC25C_ENST00000357274.3_Missense_Mutation_p.E4K|CDC25C_ENST00000348983.3_Missense_Mutation_p.E4K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	4					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGAGTTCCGTAGACATG	0.453																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(10-12)Gaa>Aaa		cell division cycle 25C							70.0	68.0	68.0					5																	137666860		2203	4300	6503	SO:0001583	missense	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137666860C>T	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.10G>A	5.37:g.137666860C>T	ENSP00000321656:p.Glu4Lys					CDC25C_ENST00000348983.3_Missense_Mutation_p.E4K|CDC25C_ENST00000357274.3_Missense_Mutation_p.E4K|CDC25C_ENST00000514555.1_Missense_Mutation_p.E4K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E4K|CDC25C_ENST00000415130.2_Missense_Mutation_p.E4K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E4K	p.E4K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	288	-			4					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	c.10G>A	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349406	0.61183	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.26518	2.38;2.36;1.73;1.74;1.74;2.38;2.36;1.75;1.78	4.47	1.53	0.23141	.	1.007470	0.07985	N	0.986183	T	0.23249	0.0562	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.001;0.0	B;B;B;B;B;B	0.12156	0.002;0.007;0.001;0.002;0.002;0.001	T	0.32798	-0.9893	10	0.31617	T	0.26	0.4289	3.9951	0.09554	0.0:0.5758:0.1957:0.2285	.	21;4;21;4;4;4	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	K	4;4;4;4;4;4;21;4;4;21	ENSP00000321656:E4K;ENSP00000348898:E4K;ENSP00000349821:E4K;ENSP00000345205:E4K;ENSP00000392631:E4K;ENSP00000424795:E4K;ENSP00000425470:E4K;ENSP00000427251:E4K;ENSP00000427105:E21K	ENSP00000321656:E4K	E	-	1	0	CDC25C	137694759	0.002000	0.14202	0.134000	0.22075	0.857000	0.48899	-0.113000	0.10774	0.191000	0.20236	0.655000	0.94253	GAA		0.453	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			21	45	0	0	0	1	0	21	45				
LOC81691	81691	broad.mit.edu	37	16	20851093	20851093	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:20851093G>C	ENST00000261377.6	+	14	1609	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	AC004381.6_ENST00000564274.1_Missense_Mutation_p.R467T|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.R467T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GAGCAGGCCAGAGTGGAAATC	0.453																																						ENST00000261377.6																			0											c.(1399-1401)aGa>aCa									294.0	279.0	284.0					16																	20851093		2201	4300	6501	SO:0001583	missense	81691							g.chr16:20851093G>C																												ENST00000261377.6:c.1400G>C	16.37:g.20851093G>C	ENSP00000261377:p.Arg467Thr					ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.R467T|AC004381.6_ENST00000348433.6_Missense_Mutation_p.R467T	p.R467T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					14	1609	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1400G>C	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360736	0.41801	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32753	1.44;1.83	5.29	1.8	0.24995	.	0.413354	0.23754	N	0.044896	T	0.32763	0.0840	M	0.65975	2.015	0.09310	N	0.999998	D;P	0.56035	0.974;0.925	P;P	0.50659	0.647;0.526	T	0.16867	-1.0388	10	0.12766	T	0.61	-14.1189	6.2223	0.20687	0.257:0.0:0.6054:0.1376	.	467;467	Q96IC2-2;Q96IC2	.;REXON_HUMAN	T	467	ENSP00000261378:R467T;ENSP00000261377:R467T	ENSP00000261377:R467T	R	+	2	0	AC004381.6	20758594	0.996000	0.38824	0.987000	0.45799	0.697000	0.40408	1.222000	0.32515	0.623000	0.30267	-0.136000	0.14681	AGA		0.453	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			37	203	0	0	0	1	0	37	203				
LPA	4018	broad.mit.edu	37	6	160966550	160966550	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160966550C>T	ENST00000316300.5	-	33	5364	c.5320G>A	c.(5320-5322)Gat>Aat	p.D1774N	LPA_ENST00000447678.1_Missense_Mutation_p.D1774N			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4282	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATGTCACCATCAGGGTTACGG	0.453																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5320-5322)Gat>Aat		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						118.0	121.0	120.0					6																	160966550		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160966550C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5320G>A	6.37:g.160966550C>T	ENSP00000321334:p.Asp1774Asn					LPA_ENST00000316300.5_Missense_Mutation_p.D1774N	p.D1774N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	34	5440	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4282			Kringle 16.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5320G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	12.72	2.023488	0.35701	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.72725	-0.68;-0.68	2.7	2.7	0.31948	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.75280	0.3828	M	0.69358	2.11	0.45567	D	0.998514	D	0.76494	0.999	D	0.80764	0.994	T	0.78094	-0.2338	9	0.87932	D	0	.	10.6817	0.45819	0.0:1.0:0.0:0.0	.	4282	P08519	APOA_HUMAN	N	1774	ENSP00000321334:D1774N;ENSP00000395608:D1774N	ENSP00000321334:D1774N	D	-	1	0	LPA	160886540	1.000000	0.71417	0.100000	0.21137	0.090000	0.18270	5.737000	0.68606	1.530000	0.49136	0.184000	0.17185	GAT		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		8	63	0	0	0	1	0	8	63				
ANKRD12	23253	broad.mit.edu	37	18	9195667	9195667	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:9195667C>T	ENST00000262126.4	+	3	446	c.206C>T	c.(205-207)tCa>tTa	p.S69L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S69L|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S69L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	69						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTAGCCCATCAAGAAATGAA	0.358																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(205-207)tCa>tTa		ankyrin repeat domain 12							82.0	79.0	80.0					18																	9195667		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9195667C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.206C>T	18.37:g.9195667C>T	ENSP00000262126:p.Ser69Leu					ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S69L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S69L	p.S69L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			3	463	+			69					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.206C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569343	0.65765	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.49720	3.46;0.77;3.46	5.57	5.57	0.84162	.	0.239967	0.36034	N	0.002832	T	0.65657	0.2712	L	0.51422	1.61	0.43476	D	0.995699	B;P;D	0.63880	0.001;0.952;0.993	B;P;D	0.72338	0.003;0.579;0.977	T	0.66791	-0.5834	10	0.87932	D	0	-9.5269	19.5555	0.95345	0.0:1.0:0.0:0.0	.	69;69;69	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	L	69	ENSP00000372932:S69L;ENSP00000441510:S69L;ENSP00000262126:S69L	ENSP00000262126:S69L	S	+	2	0	ANKRD12	9185667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.361000	0.59461	2.637000	0.89404	0.555000	0.69702	TCA		0.358	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		10	34	0	0	0	1	0	10	34				
ANKRD49	54851	broad.mit.edu	37	11	94231442	94231442	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:94231442G>C	ENST00000544612.1	+	3	961	c.464G>C	c.(463-465)aGa>aCa	p.R155T	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R155T|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	155					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAATACCAGAGTGGCTTCT	0.507																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(463-465)aGa>aCa		ankyrin repeat domain 49							96.0	87.0	90.0					11																	94231442		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231442G>C	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.464G>C	11.37:g.94231442G>C	ENSP00000440396:p.Arg155Thr					ANKRD49_ENST00000302755.4_Missense_Mutation_p.R155T|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	p.R155T	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	961	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	155					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.464G>C	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778290	0.16120	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000302755	T;T;T	0.64438	-0.1;-0.1;-0.1	6.07	2.73	0.32206	Ankyrin repeat-containing domain (4);	0.627667	0.18179	N	0.149208	T	0.43831	0.1265	N	0.25426	0.745	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30995	-0.9959	10	0.48119	T	0.1	-6.6683	5.4248	0.16419	0.2964:0.2619:0.4417:0.0	.	155	Q8WVL7	ANR49_HUMAN	T	155;114;155	ENSP00000440396:R155T;ENSP00000442449:R114T;ENSP00000303518:R155T	ENSP00000303518:R155T	R	+	2	0	ANKRD49	93871090	0.000000	0.05858	0.904000	0.35570	0.981000	0.71138	0.289000	0.18957	0.871000	0.35750	0.655000	0.94253	AGA		0.507	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		9	47	0	0	0	1	0	9	47				
SLC5A2	6524	broad.mit.edu	37	16	31496210	31496210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31496210C>T	ENST00000330498.3	+	3	288	c.269C>T	c.(268-270)gCa>gTa	p.A90V	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	90					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	ACTGGCGCTGCAAGTGGCTTG	0.602																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(268-270)gCa>gTa		solute carrier family 5 (sodium/glucose cotransporter), member 2							45.0	52.0	49.0					16																	31496210		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31496210C>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.269C>T	16.37:g.31496210C>T	ENSP00000327943:p.Ala90Val						p.A90V	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			3	288	+			90					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.269C>T	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268963	0.95429	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88896	-2.44;-2.44	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	D	0.94201	0.7450	10	0.87932	D	0	.	16.1215	0.81361	0.0:1.0:0.0:0.0	.	90	P31639	SC5A2_HUMAN	V	90	ENSP00000327943:A90V;ENSP00000410601:A90V	ENSP00000327943:A90V	A	+	2	0	SLC5A2	31403711	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.515000	0.81761	2.675000	0.91044	0.655000	0.94253	GCA		0.602	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			11	48	0	0	0	1	0	11	48				
SYNRG	11276	broad.mit.edu	37	17	35902354	35902354	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35902354G>C	ENST00000339208.6	-	15	3062	c.2922C>G	c.(2920-2922)acC>acG	p.T974T	SYNRG_ENST00000591288.1_Silent_p.T768T|SYNRG_ENST00000345615.4_Silent_p.T896T|SYNRG_ENST00000502449.2_Silent_p.T851T|SYNRG_ENST00000346661.4_Silent_p.T974T|SYNRG_ENST00000394378.2_Silent_p.T896T|SYNRG_ENST00000585472.1_Silent_p.T895T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	974					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTGCTCACTGGTCTGAGGAA	0.483																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2920-2922)acC>acG		synergin, gamma							108.0	107.0	107.0					17																	35902354		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902354G>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2922C>G	17.37:g.35902354G>C						SYNRG_ENST00000502449.2_Silent_p.T851T|SYNRG_ENST00000591288.1_Silent_p.T768T|SYNRG_ENST00000346661.4_Silent_p.T974T|SYNRG_ENST00000345615.4_Silent_p.T896T|SYNRG_ENST00000585472.1_Silent_p.T895T|SYNRG_ENST00000394378.2_Silent_p.T896T	p.T974T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3062	-			974					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.2922C>G	CCDS11321.1																																																																																				0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		24	75	0	0	0	1	0	24	75				
GTF2H4	2968	broad.mit.edu	37	6	30879235	30879235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:30879235C>T	ENST00000259895.4	+	8	923	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	VARS2_ENST00000541562.1_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.L234F|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000539324.1_Missense_Mutation_p.L178F|VARS2_ENST00000321897.5_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	234					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGTAGAGATTCTCTCCTTCCT	0.542								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(700-702)Ctc>Ttc	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							99.0	99.0	99.0					6																	30879235		2203	4300	6503	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30879235C>T	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.700C>T	6.37:g.30879235C>T	ENSP00000259895:p.Leu234Phe					GTF2H4_ENST00000376316.2_Missense_Mutation_p.L234F|GTF2H4_ENST00000539324.1_Missense_Mutation_p.L178F	p.L234F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			8	923	+			234					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.700C>T	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751232	0.69533	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.60040	0.22;0.22;0.22	5.84	5.84	0.93424	.	0.000000	0.56097	U	0.000024	T	0.79257	0.4415	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.998	T	0.83186	-0.0086	10	0.87932	D	0	-15.6142	17.628	0.88098	0.0:1.0:0.0:0.0	.	240;178;234;234	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	F	234;178;234	ENSP00000259895:L234F;ENSP00000442700:L178F;ENSP00000365493:L234F	ENSP00000259895:L234F	L	+	1	0	GTF2H4	30987214	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.332000	0.52083	2.754000	0.94517	0.655000	0.94253	CTC		0.542	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		32	105	0	0	0	1	0	32	105				
OTUD7A	161725	broad.mit.edu	37	15	31776545	31776545	+	Missense_Mutation	SNP	G	G	A	rs373551661		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:31776545G>A	ENST00000307050.4	-	11	1825	c.1733C>T	c.(1732-1734)tCg>tTg	p.S578L	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S585L	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	578					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTGCTGGCCGACGCACCAGA	0.716																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1753-1755)tCg>tTg		OTU domain containing 7A		G	LEU/SER	0,4402		0,0,2201	28.0	30.0	30.0		1733	4.7	0.5	15		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTUD7A	NM_130901.1	145	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	578/927	31776545	1,13001	2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776545G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1733C>T	15.37:g.31776545G>A	ENSP00000305926:p.Ser578Leu					OTUD7A_ENST00000307050.4_Missense_Mutation_p.S578L	p.S585L			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1846	-		all_lung(180;1.6e-09)	578					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1754C>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905897	0.72868	0.0	1.16E-4	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.34275	1.37;1.37	4.74	4.74	0.60224	.	0.454737	0.25720	N	0.028743	T	0.28167	0.0695	N	0.22421	0.69	0.45777	D	0.99866	D;D	0.56287	0.975;0.957	B;B	0.41946	0.371;0.204	T	0.05468	-1.0883	10	0.33940	T	0.23	-8.1267	17.7475	0.88425	0.0:0.0:1.0:0.0	.	585;578	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	L	578;585	ENSP00000305926:S578L;ENSP00000372358:S585L	ENSP00000305926:S578L	S	-	2	0	OTUD7A	29563837	1.000000	0.71417	0.459000	0.27081	0.862000	0.49288	5.907000	0.69908	2.148000	0.66965	0.650000	0.86243	TCG		0.716	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	13	0	0	0	1	0	3	13				
TNKS	8658	broad.mit.edu	37	8	9413844	9413844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:9413844C>T	ENST00000310430.6	+	1	421	c.395C>T	c.(394-396)tCt>tTt	p.S132F	TNKS_ENST00000522110.1_Missense_Mutation_p.S132F|TNKS_ENST00000520408.1_Missense_Mutation_p.S132F|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	132	Poly-Ser.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGTCGTCCTCTTCTTCCCCG	0.637																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(394-396)tCt>tTt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							173.0	169.0	170.0					8																	9413844		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413844C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.395C>T	8.37:g.9413844C>T	ENSP00000311579:p.Ser132Phe					TNKS_ENST00000522110.1_Missense_Mutation_p.S132F|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.S132F	p.S132F	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	421	+			132			Poly-Ser.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.395C>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826242	0.50739	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.65364	-0.15;-0.05	4.67	3.72	0.42706	.	0.657039	0.15205	N	0.274770	T	0.43700	0.1259	N	0.14661	0.345	0.80722	D	1	B;B	0.25169	0.119;0.011	B;B	0.18871	0.023;0.007	T	0.44190	-0.9344	10	0.52906	T	0.07	.	11.4037	0.49885	0.0:0.6744:0.3256:0.0	.	132;132	E7EWY6;O95271	.;TNKS1_HUMAN	F	132	ENSP00000428299:S132F;ENSP00000311579:S132F	ENSP00000311579:S132F	S	+	2	0	TNKS	9451254	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.878000	0.28126	2.560000	0.86352	0.655000	0.94253	TCT		0.637	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		52	233	0	0	0	1	0	52	233				
PCDHB12	56124	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716																																						ENST00000239450.2																			1	Substitution - Missense(1)	p.A600T(1)	prostate(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1798-1800)Gcc>Acc																																						SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590277G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1798G>A	5.37:g.140590277G>A	ENSP00000239450:p.Ala600Thr					PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1987	+			600			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1798G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685796	0.68157	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.22134	1.97;1.97	3.25	2.1	0.27182	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57651	0.2068	H	0.97340	3.985	0.33069	D	0.535096	D	0.89917	1.0	D	0.87578	0.998	T	0.72760	-0.4196	9	0.87932	D	0	.	9.6764	0.40043	0.0:0.0:0.6081:0.3919	.	600	Q9Y5F1	PCDBC_HUMAN	T	263;600;220	ENSP00000440199:A263T;ENSP00000239450:A600T	ENSP00000239450:A600T	A	+	1	0	PCDHB12	140570461	0.003000	0.15002	1.000000	0.80357	0.985000	0.73830	0.337000	0.19841	1.529000	0.49120	0.479000	0.44913	GCC		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		21	286	0	0	0	1	0	21	286				
AP2B1	163	broad.mit.edu	37	17	33998857	33998857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:33998857G>A	ENST00000262325.7	+	15	2627	c.2074G>A	c.(2074-2076)Gac>Aac	p.D692N	AP2B1_ENST00000312678.8_Missense_Mutation_p.D706N|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.D668N|AP2B1_ENST00000538556.1_Missense_Mutation_p.D635N|AP2B1_ENST00000537622.2_Missense_Mutation_p.D706N|AP2B1_ENST00000589344.1_Missense_Mutation_p.D706N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	692	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGACTGAATGACCTGTTTGA	0.478																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2074-2076)Gac>Aac		adaptor-related protein complex 2, beta 1 subunit							131.0	125.0	127.0					17																	33998857		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33998857G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2074G>A	17.37:g.33998857G>A	ENSP00000262325:p.Asp692Asn					AP2B1_ENST00000592545.1_Missense_Mutation_p.D668N|AP2B1_ENST00000312678.8_Missense_Mutation_p.D706N|AP2B1_ENST00000589344.1_Missense_Mutation_p.D706N|AP2B1_ENST00000538556.1_Missense_Mutation_p.D635N|AP2B1_ENST00000537622.2_Missense_Mutation_p.D706N|AP2B1_ENST00000545922.2_3'UTR	p.D692N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	15	2627	+		Ovarian(249;0.17)	692			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2074G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818097	0.90790	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.50548	1.0;1.08;0.74;1.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.43598	1.365	0.80722	D	1	D;B;B;B	0.54207	0.965;0.003;0.022;0.185	P;B;B;B	0.47827	0.558;0.008;0.05;0.072	T	0.45891	-0.9230	10	0.39692	T	0.17	-22.4952	17.9248	0.88980	0.0:0.0:1.0:0.0	.	443;668;692;706	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	N	692;706;635;706;443	ENSP00000262325:D692N;ENSP00000314414:D706N;ENSP00000440563:D635N;ENSP00000437413:D706N	ENSP00000262325:D692N	D	+	1	0	AP2B1	31022970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.803000	0.85983	2.472000	0.83506	0.650000	0.86243	GAC		0.478	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			29	105	0	0	0	1	0	29	105				
ESRP1	54845	broad.mit.edu	37	8	95658449	95658449	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95658449C>T	ENST00000433389.2	+	4	619	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ESRP1_ENST00000423620.2_Silent_p.F143F|ESRP1_ENST00000358397.5_Silent_p.F143F|ESRP1_ENST00000454170.2_Silent_p.F143F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	143					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAAAGAATTCAAGAAATGTT	0.353																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(427-429)ttC>ttT		epithelial splicing regulatory protein 1							158.0	150.0	152.0					8																	95658449		1868	4097	5965	SO:0001819	synonymous_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95658449C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.429C>T	8.37:g.95658449C>T						ESRP1_ENST00000358397.5_Silent_p.F143F|ESRP1_ENST00000454170.2_Silent_p.F143F|ESRP1_ENST00000423620.2_Silent_p.F143F	p.F143F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			4	619	+			143					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	c.429C>T	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392227	0.25118	.	.	ENSG00000104413	ENST00000519505	.	.	.	5.45	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2261	9.8218	0.40887	0.0:0.7224:0.0:0.2776	.	.	.	.	X	9	.	.	Q	+	1	0	ESRP1	95727625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.453000	0.35167	0.282000	0.22254	-0.140000	0.14226	CAA		0.353	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		21	74	0	0	0	1	0	21	74				
PRTG	283659	broad.mit.edu	37	15	55931941	55931941	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:55931941G>A	ENST00000389286.4	-	13	2270	c.2223C>T	c.(2221-2223)caC>caT	p.H741H		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCTCCTCCAGTGCAGGAAGA	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2221-2223)caC>caT		protogenin							175.0	184.0	181.0					15																	55931941		2064	4202	6266	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55931941G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2223C>T	15.37:g.55931941G>A							p.H741H	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	13	2270	-			741			Fibronectin type-III 4.			Silent	SNP	ENST00000389286.4	37	c.2223C>T	CCDS42040.1																																																																																				0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		29	89	0	0	0	1	0	29	89				
TMEM64	169200	broad.mit.edu	37	8	91643862	91643862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643862G>C	ENST00000458549.2	-	2	1046	c.869C>G	c.(868-870)tCt>tGt	p.S290C	TMEM64_ENST00000519519.1_Missense_Mutation_p.S29C|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	290					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			ACCCAAGTAAGAATTCAGAAG	0.418																																						ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(868-870)tCt>tGt		transmembrane protein 64							130.0	122.0	124.0					8																	91643862		2203	4300	6503	SO:0001583	missense	169200					integral to membrane		g.chr8:91643862G>C	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.869C>G	8.37:g.91643862G>C	ENSP00000414786:p.Ser290Cys					TMEM64_ENST00000519519.1_Missense_Mutation_p.S29C|TMEM64_ENST00000418210.2_Intron	p.S290C	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		2	1046	-			290					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	c.869C>G	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617394	0.87359	.	.	ENSG00000180694	ENST00000458549;ENST00000519519;ENST00000521852	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	N	0.16233	0.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.67452	-0.5667	9	0.48119	T	0.1	.	19.5445	0.95285	0.0:0.0:1.0:0.0	.	29;290	Q6YI46-2;Q6YI46	.;TMM64_HUMAN	C	290;29;29	.	ENSP00000414786:S290C	S	-	2	0	TMEM64	91713038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.614000	0.88457	0.585000	0.79938	TCT		0.418	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		11	69	0	0	0	1	0	11	69				
NRXN1	9378	broad.mit.edu	37	2	51255055	51255055	+	Silent	SNP	G	G	A	rs200494288		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:51255055G>A	ENST00000406316.2	-	2	1833	c.357C>T	c.(355-357)atC>atT	p.I119I	NRXN1_ENST00000401669.2_Silent_p.I119I|NRXN1_ENST00000402717.3_Silent_p.I119I|NRXN1_ENST00000405472.3_Silent_p.I119I|NRXN1_ENST00000404971.1_Silent_p.I119I|NRXN1_ENST00000406859.3_Silent_p.I119I|NRXN1_ENST00000405581.1_Silent_p.I119I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	119	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGGCGGCGGATGCGCACGC	0.667																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(355-357)atC>atT		neurexin 1							26.0	32.0	30.0					2																	51255055		2105	4208	6313	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255055G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.357C>T	2.37:g.51255055G>A						NRXN1_ENST00000401669.2_Silent_p.I119I|NRXN1_ENST00000406316.2_Silent_p.I119I|NRXN1_ENST00000405472.3_Silent_p.I119I|NRXN1_ENST00000406859.3_Silent_p.I119I|NRXN1_ENST00000405581.1_Silent_p.I119I|NRXN1_ENST00000402717.3_Silent_p.I119I	p.I119I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1696	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	119			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.357C>T	CCDS54360.1																																																																																				0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	28	0	0	0	1	0	8	28				
ZNF879	345462	broad.mit.edu	37	5	178460439	178460439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:178460439C>G	ENST00000444149.2	+	5	1678	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AACCAAAGCTCAGCTCTAATT	0.403																																						ENST00000444149.2																			0				endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						c.(1489-1491)tCa>tGa		zinc finger protein 879							43.0	39.0	40.0					5																	178460439		692	1591	2283	SO:0001587	stop_gained	345462				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178460439C>G	AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.1490C>G	5.37:g.178460439C>G	ENSP00000414887:p.Ser497*						p.S497*	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN			5	1678	+			497						Nonsense_Mutation	SNP	ENST00000444149.2	37	c.1490C>G	CCDS47352.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018506	0.97205	.	.	ENSG00000234284	ENST00000444149	.	.	.	4.37	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.4567	7.0274	0.24948	0.193:0.6202:0.1868:0.0	.	.	.	.	X	497	.	ENSP00000414887:S497X	S	+	2	0	ZNF879	178393045	0.000000	0.05858	1.000000	0.80357	0.923000	0.55619	1.181000	0.32017	2.401000	0.81631	0.655000	0.94253	TCA		0.403	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116		3	10	0	0	0	1	0	3	10				
MED1	5469	broad.mit.edu	37	17	37599807	37599807	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:37599807G>C	ENST00000394287.3	-	3	412	c.207C>G	c.(205-207)ctC>ctG	p.L69L	MED1_ENST00000300651.6_Silent_p.L69L			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACAAACCTTTGAGAGCCTTCT	0.403										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(205-207)ctC>ctG		mediator complex subunit 1							101.0	95.0	97.0					17																	37599807		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37599807G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.207C>G	17.37:g.37599807G>C		HNSCC(31;0.082)				MED1_ENST00000394287.3_Silent_p.L69L	p.L69L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	3	430	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	69			Interaction with ESR1.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.207C>G																																																																																					0.403	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		7	51	0	0	0	1	0	7	51				
GPR112	139378	broad.mit.edu	37	X	135496377	135496377	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:135496377C>G	ENST00000394143.1	+	25	9387	c.9096C>G	c.(9094-9096)atC>atG	p.I3032M	GPR112_ENST00000370652.1_Missense_Mutation_p.I3032M|GPR112_ENST00000394141.1_Missense_Mutation_p.I2827M|GPR112_ENST00000412101.1_Missense_Mutation_p.I2827M|GPR112_ENST00000287534.4_Missense_Mutation_p.I2751M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3032					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAAAGAAAATCTTTGAGCACA	0.398																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(9094-9096)atC>atG		G protein-coupled receptor 112							126.0	126.0	126.0					X																	135496377		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496377C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9096C>G	X.37:g.135496377C>G	ENSP00000377699:p.Ile3032Met					GPR112_ENST00000287534.4_Missense_Mutation_p.I2751M|GPR112_ENST00000370652.1_Missense_Mutation_p.I3032M|GPR112_ENST00000394141.1_Missense_Mutation_p.I2827M|GPR112_ENST00000412101.1_Missense_Mutation_p.I2827M	p.I3032M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			25	9387	+	Acute lymphoblastic leukemia(192;0.000127)		3032					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9096C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	2.825	-0.244001	0.05906	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27890	1.67;1.67;1.64;1.78;1.64	5.03	-0.0574	0.13801	.	.	.	.	.	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	P;P	0.38711	0.643;0.511	B;B	0.38056	0.264;0.135	T	0.12091	-1.0561	9	0.35671	T	0.21	.	0.7555	0.00997	0.1694:0.3712:0.1622:0.2972	.	2827;3032	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	M	3032;3032;2827;2751;2827	ENSP00000377699:I3032M;ENSP00000359686:I3032M;ENSP00000416526:I2827M;ENSP00000287534:I2751M;ENSP00000377697:I2827M	ENSP00000287534:I2751M	I	+	3	3	GPR112	135324043	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.029000	0.12329	-0.134000	0.11516	-0.366000	0.07423	ATC		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			35	69	0	0	0	1	0	35	69				
AKR1B15	441282	broad.mit.edu	37	7	134262506	134262506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:134262506C>G	ENST00000457545.2	+	11	1220	c.960C>G	c.(958-960)ttC>ttG	p.F320L	AKR1B15_ENST00000423958.1_Missense_Mutation_p.F292L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	320							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TACTCAGCTTCAACAGAAACT	0.413																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(958-960)ttC>ttG		aldo-keto reductase family 1, member B15							65.0	63.0	63.0					7																	134262506		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134262506C>G		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.960C>G	7.37:g.134262506C>G	ENSP00000389289:p.Phe320Leu					AKR1B15_ENST00000423958.1_Missense_Mutation_p.F292L	p.F320L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			11	1220	+			320					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.960C>G	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.883604	0.00532	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.13307	2.6;2.6	3.8	1.93	0.25924	NADP-dependent oxidoreductase domain (2);	.	.	.	.	T	0.02455	0.0075	N	0.00275	-1.725	0.50039	D	0.999845	B;B	0.20671	0.004;0.047	B;B	0.23018	0.006;0.043	T	0.42310	-0.9459	9	0.02654	T	1	.	7.5822	0.27972	0.0:0.776:0.0:0.224	.	292;320	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	L	320;292	ENSP00000389289:F320L;ENSP00000397009:F292L	ENSP00000397009:F292L	F	+	3	2	AKR1B15	133913046	0.892000	0.30473	0.991000	0.47740	0.095000	0.18619	-0.055000	0.11807	0.213000	0.20722	0.405000	0.27470	TTC		0.413	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			3	35	0	0	0	1	0	3	35				
SEMA4F	10505	broad.mit.edu	37	2	74902382	74902382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74902382G>A	ENST00000357877.2	+	10	1392	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	415	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCCACTCATGGACAGGCCAGT	0.582											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1243-1245)Gac>Aac		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							82.0	74.0	76.0					2																	74902382		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902382G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1243G>A	2.37:g.74902382G>A	ENSP00000350547:p.Asp415Asn		OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N	p.D415N	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			10	1392	+			415			Sema.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1243G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022910	0.93462	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.11495	2.77;2.77	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.131868	0.49916	D	0.000137	T	0.29491	0.0735	M	0.62209	1.925	0.49483	D	0.999799	D;D	0.76494	0.999;0.99	D;D	0.71184	0.972;0.932	T	0.00525	-1.1689	10	0.48119	T	0.1	.	15.6253	0.76851	0.0:0.0:1.0:0.0	.	260;415	O95754-2;O95754	.;SEM4F_HUMAN	N	415;260	ENSP00000350547:D415N;ENSP00000342675:D260N	ENSP00000342675:D260N	D	+	1	0	SEMA4F	74755890	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.307000	0.78920	2.546000	0.85860	0.453000	0.30009	GAC		0.582	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		12	60	0	0	0	1	0	12	60				
TRIM5	85363	broad.mit.edu	37	11	5701153	5701153	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5701153C>G	ENST00000380034.3	-	2	511	c.255G>C	c.(253-255)ttG>ttC	p.L85F	TRIM5_ENST00000396853.4_Missense_Mutation_p.L85F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L85F|TRIM5_ENST00000396855.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L85F|TRIM5_ENST00000305836.5_Missense_Mutation_p.L85F|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	85					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTCTGGGCTCAACTTGACCT	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(253-255)ttG>ttC		tripartite motif containing 5							158.0	142.0	148.0					11																	5701153		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701153C>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.255G>C	11.37:g.5701153C>G	ENSP00000369373:p.Leu85Phe					TRIM5_ENST00000396855.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396853.4_Missense_Mutation_p.L85F|TRIM5_ENST00000380034.3_Missense_Mutation_p.L85F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L85F	p.L85F			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	557	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	85					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.255G>C	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	6.791	0.514960	0.12944	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	T;T;T;T;T;T;T	0.73897	-0.53;-0.26;-0.27;-0.53;-0.51;-0.65;-0.79	4.07	-1.69	0.08186	Zinc finger, RING/FYVE/PHD-type (1);	2.510670	0.01491	N	0.017068	T	0.78572	0.4304	M	0.85373	2.75	0.09310	N	1	P;P;B	0.36438	0.553;0.553;0.232	B;B;B	0.41646	0.289;0.362;0.127	T	0.61763	-0.6996	10	0.59425	D	0.04	.	4.9677	0.14098	0.0:0.4037:0.2964:0.2999	.	85;85;85	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	F	85	ENSP00000380064:L85F;ENSP00000307031:L85F;ENSP00000369373:L85F;ENSP00000369366:L85F;ENSP00000380058:L85F;ENSP00000380062:L85F;ENSP00000388031:L85F	ENSP00000307031:L85F	L	-	3	2	TRIM5	5657729	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.718000	0.25866	-0.292000	0.08999	-0.355000	0.07637	TTG		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		20	88	0	0	0	1	0	20	88				
PIGG	54872	broad.mit.edu	37	4	494265	494265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:494265G>A	ENST00000453061.2	+	2	341	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PIGG_ENST00000310340.5_Missense_Mutation_p.D79N|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.D79N|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	79					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTTGAGAGATGATTTTGTGTT	0.428																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(235-237)Gat>Aat		phosphatidylinositol glycan anchor biosynthesis, class G							137.0	124.0	128.0					4																	494265		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494265G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.235G>A	4.37:g.494265G>A	ENSP00000415203:p.Asp79Asn					PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.D79N|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.D79N|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000509768.1_5'UTR	p.D79N	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			2	341	+			79					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.235G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705122	0.88924	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.79033	-0.94;-0.94;-1.23	4.4	4.4	0.53042	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.91916	0.5543	10	0.87932	D	0	.	14.487	0.67624	0.0:0.0:1.0:0.0	.	79;79;79	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	N	79	ENSP00000311750:D79N;ENSP00000415203:D79N;ENSP00000372494:D79N	ENSP00000311750:D79N	D	+	1	0	PIGG	484265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.182000	0.94881	2.006000	0.58801	0.561000	0.74099	GAT		0.428	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		7	36	0	0	0	1	0	7	36				
CXCL1	2919	broad.mit.edu	37	4	74735496	74735496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74735496C>T	ENST00000395761.3	+	2	278	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	71					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCACTGCGCCCAAACCGAAGT	0.657																																						ENST00000395761.3																			0				lung(2)	2						c.(211-213)Caa>Taa		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							81.0	99.0	93.0					4																	74735496		2203	4300	6503	SO:0001587	stop_gained	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735496C>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.211C>T	4.37:g.74735496C>T	ENSP00000379110:p.Gln71*					CXCL1_ENST00000509101.1_3'UTR	p.Q71*	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	278	+	Breast(15;0.00102)		71					Q9UCR7	Nonsense_Mutation	SNP	ENST00000395761.3	37	c.211C>T	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898500	0.33535	.	.	ENSG00000163739	ENST00000395761	.	.	.	5.08	0.767	0.18482	.	0.907213	0.09689	N	0.768703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	2.5171	0.04671	0.2216:0.3905:0.2888:0.0991	.	.	.	.	X	71	.	ENSP00000379110:Q71X	Q	+	1	0	CXCL1	74954360	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.429000	0.21412	0.175000	0.19841	-0.740000	0.03531	CAA		0.657	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			27	184	0	0	0	1	0	27	184				
IL17RB	55540	broad.mit.edu	37	3	53890958	53890958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:53890958G>A	ENST00000288167.3	+	7	626	c.617G>A	c.(616-618)aGa>aAa	p.R206K	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	206					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CTGGGAAACAGATACATGGCT	0.478																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(616-618)aGa>aAa		interleukin 17 receptor B							235.0	234.0	234.0					3																	53890958		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53890958G>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.617G>A	3.37:g.53890958G>A	ENSP00000288167:p.Arg206Lys						p.R206K	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	7	626	+			206					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.617G>A	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	G	3.436	-0.115005	0.06881	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.13778	3.3;2.56	5.41	-0.709	0.11237	.	1.094840	0.06894	N	0.804754	T	0.07773	0.0195	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42932	-0.9422	10	0.11794	T	0.64	-4.0192	8.7281	0.34483	0.7335:0.0:0.2665:0.0	.	206	Q9NRM6	I17RB_HUMAN	K	206;190	ENSP00000288167:R206K;ENSP00000418638:R190K	ENSP00000288167:R206K	R	+	2	0	IL17RB	53865998	0.179000	0.23135	0.377000	0.26055	0.658000	0.38924	0.184000	0.16939	-0.035000	0.13691	0.655000	0.94253	AGA		0.478	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		14	137	0	0	0	1	0	14	137				
MTX2	10651	broad.mit.edu	37	2	177194099	177194099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:177194099G>A	ENST00000249442.6	+	8	699	c.488G>A	c.(487-489)tGg>tAg	p.W163*	MTX2_ENST00000443241.1_Nonsense_Mutation_p.W107*|MTX2_ENST00000392529.2_Nonsense_Mutation_p.W153*	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	163					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CAAAAACAGTGGGAAGTCAAA	0.393																																						ENST00000392529.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(457-459)tGg>tAg		metaxin 2							109.0	109.0	109.0					2																	177194099		2203	4300	6503	SO:0001587	stop_gained	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177194099G>A	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.488G>A	2.37:g.177194099G>A	ENSP00000249442:p.Trp163*					MTX2_ENST00000249442.6_Nonsense_Mutation_p.W163*|MTX2_ENST00000443241.1_Nonsense_Mutation_p.W107*	p.W153*			O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		9	863	+			163					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Nonsense_Mutation	SNP	ENST00000249442.6	37	c.458G>A	CCDS2272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291480	0.95546	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	.	.	.	5.05	5.05	0.67936	.	0.245262	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-10.8088	18.3835	0.90459	0.0:0.0:1.0:0.0	.	.	.	.	X	163;153;107;140	.	ENSP00000249442:W163X	W	+	2	0	MTX2	176902345	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.690000	0.98676	2.318000	0.78349	0.557000	0.71058	TGG		0.393	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		6	65	0	0	0	1	0	6	65				
CLINT1	9685	broad.mit.edu	37	5	157236727	157236727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:157236727C>T	ENST00000411809.2	-	6	808	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	RNU6-260P_ENST00000384092.1_RNA|CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S|CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S|CLINT1_ENST00000523094.1_Missense_Mutation_p.G184S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	202					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.G184C(2)|p.G184S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGCTCACCTAATTTATCA	0.398																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			3	Substitution - Missense(3)	p.G184C(2)|p.G184S(1)	lung(2)|ovary(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(550-552)Ggt>Agt		clathrin interactor 1							150.0	138.0	142.0					5																	157236727		1867	4104	5971	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157236727C>T	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.604G>A	5.37:g.157236727C>T	ENSP00000388340:p.Gly202Ser					CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S|CLINT1_ENST00000411809.2_Missense_Mutation_p.G202S|CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S	p.G184S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	755	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	202					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.550G>A	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707223	0.96821	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.86	5.95	5.95	0.96441	.	0.097175	0.64402	D	0.000001	T	0.63141	0.2486	M	0.64404	1.975	0.80722	D	1	P;D	0.63046	0.765;0.992	B;P	0.59012	0.404;0.85	T	0.53373	-0.8448	10	0.20519	T	0.43	0.1971	20.3932	0.98965	0.0:1.0:0.0:0.0	.	202;202	B7Z6F8;Q14677	.;EPN4_HUMAN	S	184;184;202;184;202	ENSP00000429345:G184S;ENSP00000433419:G184S;ENSP00000388340:G202S;ENSP00000296951:G184S;ENSP00000429824:G202S	ENSP00000296951:G184S	G	-	1	0	CLINT1	157169305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGT		0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		15	63	0	0	0	1	0	15	63				
ATP10A	57194	broad.mit.edu	37	15	25958823	25958823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:25958823G>A	ENST00000356865.6	-	10	2453	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	781					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAGTACCTGAAGAGCAGGG	0.562																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2341-2343)tCa>tTa		ATPase, class V, type 10A							43.0	41.0	41.0					15																	25958823		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25958823G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2342C>T	15.37:g.25958823G>A	ENSP00000349325:p.Ser781Leu						p.S781L	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2453	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	781					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2342C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649706	0.47362	.	.	ENSG00000206190	ENST00000356865	D	0.82433	-1.61	4.5	4.5	0.54988	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.752143	0.12659	N	0.449765	T	0.78104	0.4231	L	0.42245	1.32	0.50813	D	0.999893	B	0.21452	0.056	B	0.25759	0.063	T	0.71547	-0.4560	10	0.30854	T	0.27	-4.8304	12.6451	0.56729	0.0:0.0:0.8346:0.1654	.	781	O60312	AT10A_HUMAN	L	781	ENSP00000349325:S781L	ENSP00000349325:S781L	S	-	2	0	ATP10A	23509916	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	5.639000	0.67868	2.231000	0.72958	0.561000	0.74099	TCA		0.562	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		8	21	0	0	0	1	0	8	21				
KBTBD3	143879	broad.mit.edu	37	11	105924349	105924349	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:105924349C>T	ENST00000526793.1	-	3	1226	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.R356Q|KBTBD3_ENST00000534815.1_Missense_Mutation_p.R277Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	352										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCGAACCGTTCGACAACATTT	0.428																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1066-1068)cGa>cAa		kelch repeat and BTB (POZ) domain containing 3							105.0	95.0	99.0					11																	105924349		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924349C>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1067G>A	11.37:g.105924349C>T	ENSP00000436262:p.Arg356Gln					KBTBD3_ENST00000534815.1_Missense_Mutation_p.R277Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R356Q	p.R356Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1226	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	352					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1067G>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251546	0.59212	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66099	-0.19;-0.19;-0.19	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.083093	0.85682	D	0.000000	T	0.73674	0.3617	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72887	-0.4156	10	0.54805	T	0.06	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	356;352	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Q	277;356;356	ENSP00000431910:R277Q;ENSP00000436262:R356Q;ENSP00000432163:R356Q	ENSP00000436262:R356Q	R	-	2	0	KBTBD3	105429559	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	5.776000	0.68924	2.835000	0.97688	0.591000	0.81541	CGA		0.428	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		7	44	0	0	0	1	0	7	44				
ATP8B2	57198	broad.mit.edu	37	1	154317988	154317988	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154317988C>G	ENST00000368489.3	+	23	2760	c.2760C>G	c.(2758-2760)ttC>ttG	p.F920L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	906					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGTCCACTTCTGGTTTGGCT	0.483											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2758-2760)ttC>ttG		ATPase, aminophospholipid transporter, class I, type 8B, member 2							220.0	235.0	230.0					1																	154317988		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317988C>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2760C>G	1.37:g.154317988C>G	ENSP00000357475:p.Phe920Leu		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.F920L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2760	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		906					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2760C>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143681	0.57044	.	.	ENSG00000143515	ENST00000368489	D	0.88046	-2.33	5.25	2.35	0.29111	.	0.059548	0.64402	N	0.000002	D	0.87051	0.6081	M	0.73372	2.23	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.84581	0.0661	10	0.38643	T	0.18	.	8.281	0.31900	0.2781:0.648:0.0:0.0739	.	920	P98198-3	.	L	920	ENSP00000357475:F920L	ENSP00000357475:F920L	F	+	3	2	ATP8B2	152584612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.892000	0.69790	0.338000	0.23692	0.655000	0.94253	TTC		0.483	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		74	301	0	0	0	1	0	74	301				
CCDC171	203238	broad.mit.edu	37	9	15777662	15777662	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:15777662C>G	ENST00000380701.3	+	19	3064	c.2736C>G	c.(2734-2736)ctC>ctG	p.L912L	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Silent_p.L912L	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	912																	TTGCAAAACTCATGGATAAAA	0.373																																						ENST00000380701.3																			0											c.(2734-2736)ctC>ctG		coiled-coil domain containing 171							68.0	73.0	71.0					9																	15777662		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15777662C>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2736C>G	9.37:g.15777662C>G						CCDC171_ENST00000297641.3_Silent_p.L912L	p.L912L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			19	3064	+			912					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2736C>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	6.189	0.403089	0.11754	.	.	ENSG00000164989	ENST00000449575	.	.	.	5.87	-2.01	0.07410	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8501	2.1954	0.03909	0.4918:0.1589:0.1903:0.159	.	.	.	.	X	152	.	.	S	+	2	0	C9orf93	15767662	0.154000	0.22792	0.983000	0.44433	0.995000	0.86356	-1.002000	0.03686	-0.412000	0.07519	-0.145000	0.13849	TCA		0.373	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		12	67	0	0	0	1	0	12	67				
TAF1L	138474	broad.mit.edu	37	9	32631851	32631851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:32631851G>A	ENST00000242310.4	-	1	3816	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1243					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1243W(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCTCCGCCGTTCTTTCCGC	0.453																																						ENST00000242310.4																			2	Substitution - Missense(2)	p.R1243W(2)	large_intestine(1)|endometrium(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3727-3729)Cgg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							98.0	96.0	96.0					9																	32631851		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631851G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3727C>T	9.37:g.32631851G>A	ENSP00000418379:p.Arg1243Trp						p.R1243W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3816	-			1243					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3727C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265050	0.40095	.	.	ENSG00000122728	ENST00000242310	T	0.64260	-0.09	1.04	-0.675	0.11364	.	0.106321	0.64402	D	0.000005	T	0.59622	0.2207	L	0.29908	0.895	0.45528	D	0.99848	D	0.89917	1.0	D	0.71414	0.973	T	0.59369	-0.7467	10	0.87932	D	0	.	4.4056	0.11407	0.0:0.0:0.419:0.5809	.	1243	Q8IZX4	TAF1L_HUMAN	W	1243	ENSP00000418379:R1243W	ENSP00000418379:R1243W	R	-	1	2	TAF1L	32621851	1.000000	0.71417	0.784000	0.31847	0.128000	0.20619	1.695000	0.37763	0.507000	0.28148	0.195000	0.17529	CGG		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			15	75	0	0	0	1	0	15	75				
KALRN	8997	broad.mit.edu	37	3	124053324	124053324	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124053324C>T	ENST00000240874.3	+	9	1780	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	KALRN_ENST00000360013.3_Silent_p.F541F|KALRN_ENST00000460856.1_Silent_p.F541F	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	541					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCGTCTTCCAGCAGGATG	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1621-1623)ttC>ttT		kalirin, RhoGEF kinase							24.0	26.0	25.0					3																	124053324		2203	4299	6502	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053324C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1623C>T	3.37:g.124053324C>T						KALRN_ENST00000240874.3_Silent_p.F541F|KALRN_ENST00000460856.1_Silent_p.F541F	p.F541F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1750	+			541					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1623C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267804	0.23136	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.27	3.49	0.39957	.	.	.	.	.	T	0.62122	0.2402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58629	-0.7603	4	.	.	.	.	11.4976	0.50417	0.0:0.8562:0.0:0.1438	.	.	.	.	F	519	.	.	S	+	2	0	KALRN	125536014	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.191000	0.32138	0.799000	0.34018	0.655000	0.94253	TCC		0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		9	24	0	0	0	1	0	9	24				
VPS13C	54832	broad.mit.edu	37	15	62299582	62299582	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:62299582G>C	ENST00000261517.5	-	15	1288	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	VPS13C_ENST00000395896.4_Silent_p.L405L|VPS13C_ENST00000395898.3_Silent_p.L362L|VPS13C_ENST00000249837.3_Silent_p.L362L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATAACTCTTGAGTAACTGCC	0.328																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1213-1215)ctC>ctG		vacuolar protein sorting 13 homolog C (S. cerevisiae)							219.0	200.0	206.0					15																	62299582		2203	4297	6500	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62299582G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1215C>G	15.37:g.62299582G>C						VPS13C_ENST00000249837.3_Silent_p.L362L|VPS13C_ENST00000395896.4_Silent_p.L405L|VPS13C_ENST00000395898.3_Silent_p.L362L	p.L405L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			15	1288	-			405						Silent	SNP	ENST00000261517.5	37	c.1215C>G	CCDS32257.1																																																																																				0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	16	0	0	0	1	0	6	16				
TRIM62	55223	broad.mit.edu	37	1	33646718	33646718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:33646718C>T	ENST00000291416.5	-	1	549	c.316G>A	c.(316-318)Gac>Aac	p.D106N	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	106					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGCGCGCGGTCCGTGAGGCAG	0.672																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(316-318)Gac>Aac		tripartite motif containing 62							32.0	23.0	26.0					1																	33646718		2198	4297	6495	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33646718C>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.316G>A	1.37:g.33646718C>T	ENSP00000291416:p.Asp106Asn					TRIM62_ENST00000485148.1_5'UTR	p.D106N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			1	549	-		Myeloproliferative disorder(586;0.0393)	106					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.316G>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510272	0.96386	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430	T	0.50813	0.73	3.92	3.92	0.45320	Zinc finger, B-box (2);	0.061993	0.64402	U	0.000006	T	0.62563	0.2438	M	0.91510	3.215	0.80722	D	1	P	0.35493	0.505	B	0.42319	0.383	T	0.72134	-0.4382	10	0.87932	D	0	.	13.4107	0.60942	0.0:1.0:0.0:0.0	.	106	Q9BVG3	TRI62_HUMAN	N	106	ENSP00000291416:D106N	ENSP00000291416:D106N	D	-	1	0	TRIM62	33419305	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.605000	0.82844	1.692000	0.51112	0.448000	0.29417	GAC		0.672	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		6	25	0	0	0	1	0	6	25				
DDX41	51428	broad.mit.edu	37	5	176943934	176943934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176943934C>G	ENST00000507955.1	-	1	536	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	5					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CGTTCGGGTTCCGACTCCTCC	0.662																																						ENST00000507955.1																			0											c.(13-15)Gaa>Caa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							75.0	62.0	66.0					5																	176943934		2202	4300	6502	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943934C>G	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.13G>C	5.37:g.176943934C>G	ENSP00000422753:p.Glu5Gln					DDX41_ENST00000506965.1_5'UTR	p.E5Q	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		1	536	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	5					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.13G>C	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046848	0.55110	.	.	ENSG00000183258	ENST00000507955	T	0.27720	1.65	4.45	4.45	0.53987	.	1.295880	0.05327	N	0.527699	T	0.22898	0.0553	N	0.22421	0.69	0.33034	D	0.530546	B	0.25904	0.137	B	0.24701	0.055	T	0.13522	-1.0506	10	0.22109	T	0.4	-18.4782	8.5746	0.33590	0.0:0.8956:0.0:0.1044	.	5	Q9UJV9	DDX41_HUMAN	Q	5	ENSP00000422753:E5Q	ENSP00000422753:E5Q	E	-	1	0	DDX41	176876540	0.989000	0.36119	1.000000	0.80357	0.954000	0.61252	2.117000	0.41939	2.464000	0.83262	0.591000	0.81541	GAA		0.662	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		13	45	0	0	0	1	0	13	45				
MRPL27	51264	broad.mit.edu	37	17	48450508	48450508	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48450508C>T	ENST00000225969.4	-	1	67	c.24G>A	c.(22-24)ctG>ctA	p.L8L	MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000393271.2_5'Flank|MRPL27_ENST00000442592.3_Silent_p.L8L|EME1_ENST00000511648.2_5'Flank|MRPL27_ENST00000511860.1_5'Flank|EME1_ENST00000338165.4_5'Flank|MRPL27_ENST00000503633.1_Silent_p.L8L	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	8					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			TCCGGGTCCTCAGCGCCAACA	0.607																																						ENST00000442592.3																			0				endometrium(1)|large_intestine(2)|urinary_tract(1)	4						c.(22-24)ctG>ctA		mitochondrial ribosomal protein L27							113.0	93.0	100.0					17																	48450508		2203	4300	6503	SO:0001819	synonymous_variant	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48450508C>T	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.24G>A	17.37:g.48450508C>T						MRPL27_ENST00000503633.1_Silent_p.L8L|MRPL27_ENST00000225969.4_Silent_p.L8L	p.L8L			Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		1	60	-	Breast(11;5.62e-19)		8					B2RE14	Silent	SNP	ENST00000225969.4	37	c.24G>A	CCDS11564.1																																																																																				0.607	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1			8	55	0	0	0	1	0	8	55				
EIF2D	1939	broad.mit.edu	37	1	206785672	206785672	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:206785672G>C	ENST00000271764.2	-	1	232	c.24C>G	c.(22-24)gtC>gtG	p.V8V	EIF2D_ENST00000367114.3_Silent_p.V8V	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	8					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGGACTTGACCCGAAAGG	0.622																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(22-24)gtC>gtG		eukaryotic translation initiation factor 2D							122.0	106.0	111.0					1																	206785672		2203	4300	6503	SO:0001819	synonymous_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206785672G>C	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.24C>G	1.37:g.206785672G>C						EIF2D_ENST00000367114.3_Silent_p.V8V	p.V8V	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			1	232	-			8					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.24C>G	CCDS1465.1																																																																																				0.622	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		14	98	0	0	0	1	0	14	98				
PLEC	5339	broad.mit.edu	37	8	144992235	144992235	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144992235G>A	ENST00000322810.4	-	32	12334	c.12165C>T	c.(12163-12165)atC>atT	p.I4055I	PLEC_ENST00000354958.2_Silent_p.I3896I|PLEC_ENST00000357649.2_Silent_p.I3922I|PLEC_ENST00000398774.2_Silent_p.I3886I|PLEC_ENST00000356346.3_Silent_p.I3904I|PLEC_ENST00000345136.3_Silent_p.I3918I|PLEC_ENST00000354589.3_Silent_p.I3918I|PLEC_ENST00000527096.1_Silent_p.I3941I|PLEC_ENST00000436759.2_Silent_p.I3945I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4055	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACCTCCTCGATGGAGGTCA	0.637																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12163-12165)atC>atT		plectin							9.0	11.0	11.0					8																	144992235		2060	4205	6265	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992235G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12165C>T	8.37:g.144992235G>A						PLEC_ENST00000345136.3_Silent_p.I3918I|PLEC_ENST00000356346.3_Silent_p.I3904I|PLEC_ENST00000354958.2_Silent_p.I3896I|PLEC_ENST00000398774.2_Silent_p.I3886I|PLEC_ENST00000354589.3_Silent_p.I3918I|PLEC_ENST00000357649.2_Silent_p.I3922I|PLEC_ENST00000436759.2_Silent_p.I3945I|PLEC_ENST00000527096.1_Silent_p.I3941I	p.I4055I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12334	-			4055			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12165C>T	CCDS43772.1																																																																																				0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	14	0	0	0	1	0	4	14				
ZNF284	342909	broad.mit.edu	37	19	44590583	44590583	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44590583G>C	ENST00000421176.3	+	5	1168	c.952G>C	c.(952-954)Gat>Cat	p.D318H	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTTAGATGTGATACCTGTAG	0.368																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(952-954)Gat>Cat		zinc finger protein 284							76.0	78.0	77.0					19																	44590583		2129	4274	6403	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590583G>C	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.952G>C	19.37:g.44590583G>C	ENSP00000411032:p.Asp318His					ZNF223_ENST00000591793.1_3'UTR	p.D318H	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	1168	+		Prostate(69;0.0435)	318					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.952G>C	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598819	0.28445	.	.	ENSG00000186026	ENST00000421176	T	0.19806	2.12	2.74	0.565	0.17309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.39085	1.19	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.44086	T	0.13	.	2.4659	0.04553	0.2738:0.0:0.3555:0.3707	.	318	Q2VY69	ZN284_HUMAN	H	318	ENSP00000411032:D318H	ENSP00000411032:D318H	D	+	1	0	ZNF284	49282423	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-0.808000	0.04515	0.467000	0.27218	0.462000	0.41574	GAT		0.368	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		12	92	0	0	0	1	0	12	92				
PPP1R15A	23645	broad.mit.edu	37	19	49378883	49378883	+	Missense_Mutation	SNP	G	G	A	rs368302218		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49378883G>A	ENST00000200453.5	+	3	1947	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	560	Interaction with SMARCB1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCGCTTCTCCGAGAAGGTCAC	0.677																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1678-1680)Gag>Aag		protein phosphatase 1, regulatory subunit 15A		G	LYS/GLU	1,4405		0,1,2202	38.0	41.0	40.0		1678	3.7	1.0	19		40	1,8597		0,1,4298	no	missense	PPP1R15A	NM_014330.3	56	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	560/675	49378883	2,13002	2203	4299	6502	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49378883G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1678G>A	19.37:g.49378883G>A	ENSP00000200453:p.Glu560Lys						p.E560K	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	1947	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	560			Interaction with SMARCB1.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1678G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973782	0.74246	2.27E-4	1.16E-4	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.21543	2.0	4.87	3.74	0.42951	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.490893	0.18082	N	0.152261	T	0.42765	0.1217	M	0.75264	2.295	0.39088	D	0.961046	D	0.89917	1.0	D	0.72075	0.976	T	0.39941	-0.9589	10	0.72032	D	0.01	-11.0758	9.7085	0.40231	0.0:0.0:0.7935:0.2065	.	560	O75807	PR15A_HUMAN	K	560;400;518	ENSP00000200453:E560K	ENSP00000200453:E560K	E	+	1	0	PPP1R15A	54070695	0.985000	0.35326	1.000000	0.80357	0.524000	0.34500	1.511000	0.35801	2.629000	0.89072	0.591000	0.81541	GAG		0.677	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		18	120	0	0	0	1	0	18	120				
BTN3A3	10384	broad.mit.edu	37	6	26446172	26446172	+	Missense_Mutation	SNP	C	C	T	rs200625612		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:26446172C>T	ENST00000244519.2	+	5	917	c.674C>T	c.(673-675)tCc>tTc	p.S225F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S183F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S183F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	225	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCAGAAATTCCCTCCTCGGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20303	0.0		0.001	False		,,,				2504	0.0					ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(673-675)tCc>tTc		butyrophilin, subfamily 3, member A3							152.0	145.0	147.0					6																	26446172		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26446172C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.674C>T	6.37:g.26446172C>T	ENSP00000244519:p.Ser225Phe					BTN3A3_ENST00000361232.3_Missense_Mutation_p.S183F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S183F	p.S225F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			5	917	+			225			Ig-like V-type 2.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.674C>T	CCDS4611.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.46	2.541284	0.45280	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000496719;ENST00000476281;ENST00000487272	T;T;T;T;T	0.76968	3.2;3.2;3.2;-1.06;-1.06	3.1	1.2	0.21068	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65015	0.2651	L	0.58428	1.81	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.51999	0.687;0.687	T	0.55082	-0.8196	9	0.44086	T	0.13	.	5.901	0.18965	0.0:0.722:0.0:0.278	.	183;225	E9PCP5;O00478	.;BT3A3_HUMAN	F	225;183;183;225;131;183	ENSP00000244519:S225F;ENSP00000344968:S183F;ENSP00000355238:S183F;ENSP00000420147:S225F;ENSP00000419445:S183F	ENSP00000244519:S225F	S	+	2	0	BTN3A3	26554151	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-0.821000	0.04452	0.125000	0.18397	0.462000	0.41574	TCC		0.557	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		26	122	0	0	0	1	0	26	122				
ZNF134	7693	broad.mit.edu	37	19	58132662	58132662	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:58132662G>C	ENST00000396161.5	+	3	1485	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGACACCAAAGAGTTCACACT	0.488																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(1174-1176)aGa>aCa		zinc finger protein 134							101.0	105.0	104.0					19																	58132662		2203	4300	6503	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132662G>C	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1175G>C	19.37:g.58132662G>C	ENSP00000379464:p.Arg392Thr						p.R392T	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1485	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	392					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1175G>C	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702475	0.48307	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.25414	1.8	4.09	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35624	0.0938	M	0.66378	2.025	0.21256	N	0.999741	P	0.47484	0.896	P	0.50440	0.641	T	0.38672	-0.9650	9	0.72032	D	0.01	.	11.8365	0.52327	0.2755:0.0:0.7245:0.0	.	392	P52741	ZN134_HUMAN	T	459;312;392	ENSP00000379464:R392T	ENSP00000379464:R392T	R	+	2	0	ZNF134	62824474	0.000000	0.05858	0.924000	0.36721	0.986000	0.74619	0.112000	0.15479	-0.287000	0.09064	-0.471000	0.05019	AGA		0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		5	182	0	0	0	1	0	5	182				
DNAJB13	374407	broad.mit.edu	37	11	73679416	73679416	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:73679416C>T	ENST00000339764.1	+	6	1384	c.633C>T	c.(631-633)atC>atT	p.I211I	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Silent_p.I36I|DNAJB13_ENST00000537753.1_Silent_p.I36I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	211					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CAGCAGACATCATTTTCATCG	0.547																																						ENST00000339764.1																			0				large_intestine(3)|lung(2)	5						c.(631-633)atC>atT		DnaJ (Hsp40) homolog, subfamily B, member 13							174.0	126.0	142.0					11																	73679416		2200	4293	6493	SO:0001819	synonymous_variant	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73679416C>T	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.633C>T	11.37:g.73679416C>T						RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.I36I|DNAJB13_ENST00000543947.1_Silent_p.I36I	p.I211I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN			6	1384	+	Breast(11;7.42e-05)		211					B3LEP4|Q8IZW5	Silent	SNP	ENST00000339764.1	37	c.633C>T	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866198	0.51588	.	.	ENSG00000187726	ENST00000542350	.	.	.	5.23	4.05	0.47172	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57608	-0.7782	4	.	.	.	.	10.3077	0.43691	0.0:0.8762:0.0:0.1238	.	.	.	.	Y	112	.	.	H	+	1	0	DNAJB13	73357064	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.662000	0.25038	0.863000	0.35553	0.437000	0.28790	CAT		0.547	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		13	68	0	0	0	1	0	13	68				
SEC61A2	55176	broad.mit.edu	37	10	12197844	12197844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:12197844C>T	ENST00000298428.9	+	7	619	c.530C>T	c.(529-531)tCt>tTt	p.S177F	SEC61A2_ENST00000379020.4_Missense_Mutation_p.S177F|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.S155F|SEC61A2_ENST00000304267.8_Missense_Mutation_p.S177F	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	177					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGCTTGGGGTCTGGGATTTCC	0.488																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(463-465)tCt>tTt		Sec61 alpha 2 subunit (S. cerevisiae)							283.0	254.0	263.0					10																	12197844		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197844C>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.530C>T	10.37:g.12197844C>T	ENSP00000298428:p.Ser177Phe					SEC61A2_ENST00000304267.8_Missense_Mutation_p.S177F|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.S177F|SEC61A2_ENST00000379020.4_Missense_Mutation_p.S177F	p.S155F	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			6	611	+		Renal(717;0.228)	177					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.464C>T	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965960	0.92855	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020	.	.	.	5.73	5.73	0.89815	SecY subunit domain (2);	0.000000	0.64402	D	0.000001	D	0.91341	0.7269	H	0.99011	4.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.976;0.997;1.0	D	0.94220	0.7466	9	0.87932	D	0	-13.9215	19.2577	0.93952	0.0:1.0:0.0:0.0	.	155;177;177	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	F	155;177;177;177	.	ENSP00000298428:S177F	S	+	2	0	SEC61A2	12237850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.854000	0.98071	0.655000	0.94253	TCT		0.488	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		65	249	0	0	0	1	0	65	249				
PLK2	10769	broad.mit.edu	37	5	57754893	57754893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:57754893C>T	ENST00000274289.3	-	2	597	c.297G>A	c.(295-297)atG>atA	p.M99I	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAAATCTGTCATCTCGTAAC	0.393																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(295-297)atG>atA		polo-like kinase 2							165.0	169.0	168.0					5																	57754893		2202	4300	6502	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57754893C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.297G>A	5.37:g.57754893C>T	ENSP00000274289:p.Met99Ile						p.M99I	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	2	597	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	99			Protein kinase.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.297G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437609	0.62955	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.23754	1.89	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068199	0.85682	D	0.000000	T	0.32556	0.0833	N	0.05441	-0.05	0.80722	D	1	D;B	0.69078	0.997;0.372	D;B	0.79108	0.992;0.403	T	0.21861	-1.0233	10	0.17832	T	0.49	-27.5559	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1;99	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	I	99;99;85	ENSP00000274289:M99I	ENSP00000274289:M99I	M	-	3	0	PLK2	57790650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	ATG		0.393	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		11	84	0	0	0	1	0	11	84				
ADRB1	153	broad.mit.edu	37	10	115804945	115804945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:115804945G>C	ENST00000369295.2	+	1	1140	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	352					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CTTCCACCGCGAGCTGGTGCC	0.627																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1054-1056)Gag>Cag		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						28.0	19.0	22.0					10																	115804945		2194	4286	6480	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804945G>C	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1054G>C	10.37:g.115804945G>C	ENSP00000358301:p.Glu352Gln						p.E352Q	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1140	+		Colorectal(252;0.172)|Breast(234;0.188)	352					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.1054G>C	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580701	0.28180	.	.	ENSG00000043591	ENST00000369295	T	0.72051	-0.62	3.81	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.300838	0.30565	U	0.009348	T	0.50599	0.1625	N	0.25485	0.75	0.25427	N	0.988215	B	0.11235	0.004	B	0.20577	0.03	T	0.27536	-1.0071	10	0.22706	T	0.39	.	5.0515	0.14511	0.1802:0.0:0.6557:0.1641	.	352	P08588	ADRB1_HUMAN	Q	352	ENSP00000358301:E352Q	ENSP00000358301:E352Q	E	+	1	0	ADRB1	115794935	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	3.502000	0.53332	0.224000	0.20940	0.484000	0.47621	GAG		0.627	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			6	22	0	0	0	1	0	6	22				
ZNF253	56242	broad.mit.edu	37	19	20002532	20002532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:20002532C>G	ENST00000589717.1	+	4	568	c.476C>G	c.(475-477)tCa>tGa	p.S159*	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S83*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	159					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCAAATTCAAACACATAT	0.299																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(475-477)tCa>tGa		zinc finger protein 253							42.0	45.0	44.0					19																	20002532		2047	4233	6280	SO:0001587	stop_gained	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002532C>G	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.476C>G	19.37:g.20002532C>G	ENSP00000468720:p.Ser159*					ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S83*	p.S159*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	568	+			159					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	c.476C>G	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.789793	0.31685	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.04	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2652	0.06863	0.0:0.3945:0.0:0.6055	.	.	.	.	X	159	.	.	S	+	2	0	ZNF253	19863532	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.135000	0.15952	-0.339000	0.08401	0.298000	0.19748	TCA		0.299	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		7	36	0	0	0	1	0	7	36				
OR2T11	127077	broad.mit.edu	37	1	248790382	248790382	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:248790382C>T	ENST00000330803.2	-	1	109	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTGTTCACCAGAAGCC	0.517																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(46-48)gtG>gtA		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							42.0	51.0	48.0					1																	248790382		2045	4236	6281	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790382C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.48G>A	1.37:g.248790382C>T							p.V16V	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	109	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.48G>A	CCDS31122.1																																																																																				0.517	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		21	87	0	0	0	1	0	21	87				
KLK2	3817	broad.mit.edu	37	19	51381788	51381788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51381788C>G	ENST00000325321.3	+	5	984	c.759C>G	c.(757-759)atC>atG	p.I253M	KLK2_ENST00000391810.2_Missense_Mutation_p.I151M|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGAAGTGGATCAAGGACACCA	0.547			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(757-759)atC>atG		kallikrein-related peptidase 2							206.0	189.0	195.0					19																	51381788		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51381788C>G	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.759C>G	19.37:g.51381788C>G	ENSP00000313581:p.Ile253Met					KLK2_ENST00000391810.2_Missense_Mutation_p.I151M|KLK2_ENST00000358049.4_3'UTR	p.I253M			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	5	984	+		all_neural(266;0.026)	253			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.759C>G	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532675	0.45073	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	T;T	0.20200	2.09;2.09	3.44	-5.72	0.02406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001259	T	0.37046	0.0989	M	0.85777	2.775	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.77557	0.99;0.987	T	0.16689	-1.0394	10	0.72032	D	0.01	.	4.3674	0.11230	0.4053:0.4049:0.0:0.1897	.	236;253	B4DU77;P20151	.;KLK2_HUMAN	M	253;151	ENSP00000313581:I253M;ENSP00000375686:I151M	ENSP00000313581:I253M	I	+	3	3	KLK2	56073600	0.808000	0.29022	0.000000	0.03702	0.004000	0.04260	1.377000	0.34317	-1.311000	0.02309	-0.253000	0.11424	ATC		0.547	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		19	310	0	0	0	1	0	19	310				
NPR3	4883	broad.mit.edu	37	5	32712159	32712159	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:32712159C>G	ENST00000265074.8	+	1	620	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.L93V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(277-279)Ctg>Gtg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						31.0	37.0	35.0					5																	32712159		1956	4146	6102	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712159C>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.277C>G	5.37:g.32712159C>G	ENSP00000265074:p.Leu93Val					NPR3_ENST00000415167.2_Missense_Mutation_p.L93V|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	p.L93V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	620	+			93					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.277C>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748618	0.30955	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	T;T	0.30182	1.54;1.54	5.37	3.58	0.41010	Extracellular ligand-binding receptor (1);	0.122386	0.36628	N	0.002492	T	0.29749	0.0743	L	0.56124	1.755	0.80722	D	1	B;B	0.31227	0.314;0.314	B;B	0.30572	0.117;0.08	T	0.08534	-1.0717	10	0.66056	D	0.02	-15.2521	11.7553	0.51872	0.0:0.8538:0.0:0.1462	.	93;93	P17342;Q60I31	ANPRC_HUMAN;.	V	93	ENSP00000265074:L93V;ENSP00000398028:L93V	ENSP00000265074:L93V	L	+	1	2	NPR3	32747916	0.099000	0.21834	0.334000	0.25495	0.480000	0.33159	0.487000	0.22356	0.646000	0.30693	0.561000	0.74099	CTG		0.677	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		11	74	0	0	0	1	0	11	74				
MGAT2	4247	broad.mit.edu	37	14	50088129	50088129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:50088129G>A	ENST00000305386.2	+	1	641	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	48					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACCCGCGCGGGGTGCCGGC	0.726																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(142-144)cGg>cAg		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							10.0	13.0	12.0					14																	50088129		2165	4222	6387	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088129G>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.143G>A	14.37:g.50088129G>A	ENSP00000307423:p.Arg48Gln					RP11-649E7.5_ENST00000555043.1_RNA	p.R48Q	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	641	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		48					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.143G>A	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380040	0.42207	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88509	-2.39	5.36	4.45	0.53987	.	0.260979	0.32357	N	0.006210	T	0.80571	0.4648	N	0.12182	0.205	0.22050	N	0.999397	D	0.67145	0.996	P	0.47162	0.54	T	0.71290	-0.4637	10	0.13108	T	0.6	-7.3176	13.3024	0.60332	0.0:0.1589:0.8411:0.0	.	48	Q10469	MGAT2_HUMAN	Q	48;54	ENSP00000307423:R48Q	ENSP00000307423:R48Q	R	+	2	0	MGAT2	49157879	0.998000	0.40836	0.377000	0.26055	0.242000	0.25591	3.098000	0.50259	1.466000	0.48025	0.650000	0.86243	CGG		0.726	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		6	19	0	0	0	1	0	6	19				
SEMA6B	10501	broad.mit.edu	37	19	4548067	4548067	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4548067G>C	ENST00000586582.1	-	14	1883	c.1573C>G	c.(1573-1575)Cgc>Ggc	p.R525G	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R525G|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R525G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	525					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCAGCGAGCCACAGGC	0.682																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1573-1575)Cgc>Ggc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							14.0	15.0	15.0					19																	4548067		2196	4262	6458	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548067G>C	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1573C>G	19.37:g.4548067G>C	ENSP00000467290:p.Arg525Gly					SEMA6B_ENST00000586965.1_Missense_Mutation_p.R525G|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R525G	p.R525G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1883	-		Hepatocellular(1079;0.137)	525					A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1573C>G	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.113058	0.77210	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.18657	2.2	3.58	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);	0.282898	0.32593	U	0.005883	T	0.41903	0.1179	M	0.62723	1.935	0.44073	D	0.996829	D	0.89917	1.0	D	0.97110	1.0	T	0.40270	-0.9572	10	0.87932	D	0	.	12.7971	0.57565	0.0:0.0:1.0:0.0	.	525	Q9H3T3	SEM6B_HUMAN	G	525	ENSP00000301293:R525G	ENSP00000301292:R525G	R	-	1	0	SEMA6B	4499067	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	4.858000	0.62947	1.853000	0.53794	0.485000	0.47835	CGC		0.682	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	7	0	0	0	1	0	3	7				
PRPSAP1	5635	broad.mit.edu	37	17	74308953	74308953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74308953C>T	ENST00000446526.3	-	9	1442	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.E230K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	304					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGACCTCGTCTACGGAG	0.453																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(997-999)Gag>Aag		phosphoribosyl pyrophosphate synthetase-associated protein 1							68.0	74.0	72.0					17																	74308953		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308953C>T	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.997G>A	17.37:g.74308953C>T	ENSP00000414624:p.Glu333Lys					PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.E230K	p.E333K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			9	1442	-			304					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.997G>A	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242528	0.79912	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.74947	-0.89;-0.89;-0.89	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85630	0.5741	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.86	D	0.85266	0.1053	10	0.59425	D	0.04	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	304;333	Q14558;Q14558-2	KPRA_HUMAN;.	K	333;230;230	ENSP00000414624:E333K;ENSP00000314973:E230K;ENSP00000392838:E230K	ENSP00000314973:E230K	E	-	1	0	PRPSAP1	71820548	1.000000	0.71417	0.961000	0.40146	0.034000	0.12701	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	GAG		0.453	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		21	84	0	0	0	1	0	21	84				
SPTAN1	6709	broad.mit.edu	37	9	131395129	131395129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131395129C>G	ENST00000372731.4	+	55	7298	c.7188C>G	c.(7186-7188)atC>atG	p.I2396M	SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2401M|SPTAN1_ENST00000358161.5_Missense_Mutation_p.I2401M|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2396	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTTTCATGATCAGCCGCGAAA	0.592																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(7201-7203)atC>atG		spectrin, alpha, non-erythrocytic 1							98.0	98.0	98.0					9																	131395129		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131395129C>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7188C>G	9.37:g.131395129C>G	ENSP00000361816:p.Ile2396Met					SPTAN1_ENST00000372731.4_Missense_Mutation_p.I2396M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2401M	p.I2401M			Q13813	SPTA2_HUMAN			55	7316	+			2396			EF-hand 2.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7203C>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699639	0.68501	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.63580	-0.05;-0.05;-0.05	5.69	5.69	0.88448	EF-hand-like domain (1);	0.123969	0.64402	D	0.000016	T	0.78641	0.4315	M	0.78916	2.43	0.80722	D	1	D;D;B	0.89917	1.0;0.988;0.001	D;D;B	0.91635	0.999;0.965;0.004	T	0.80699	-0.1266	10	0.87932	D	0	.	13.0638	0.59022	0.0:0.9266:0.0:0.0734	.	2376;2401;2396	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	M	2401;2396;2401;2376	ENSP00000350882:I2401M;ENSP00000361816:I2396M;ENSP00000361824:I2401M	ENSP00000350882:I2401M	I	+	3	3	SPTAN1	130434950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.634000	0.54302	2.688000	0.91661	0.561000	0.74099	ATC		0.592	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		25	121	0	0	0	1	0	25	121				
BRD9	65980	broad.mit.edu	37	5	864672	864672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:864672G>A	ENST00000467963.1	-	16	1871	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	BRD9_ENST00000483173.1_Missense_Mutation_p.R516C|BRD9_ENST00000388890.4_Missense_Mutation_p.R453C|BRD9_ENST00000323510.4_Missense_Mutation_p.R473C	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	569					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACACTCAGGCGAGAAGGGCTT	0.587																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(1417-1419)Cgc>Tgc		bromodomain containing 9							68.0	69.0	69.0					5																	864672		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:864672G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1705C>T	5.37:g.864672G>A	ENSP00000419765:p.Arg569Cys					BRD9_ENST00000483173.1_Missense_Mutation_p.R516C|BRD9_ENST00000388890.4_Missense_Mutation_p.R453C|BRD9_ENST00000467963.1_Missense_Mutation_p.R569C	p.R473C			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		13	1416	-			569					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.1417C>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	17.74	3.464282	0.63513	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.47	5.47	0.80525	.	0.328394	0.39274	N	0.001403	T	0.47040	0.1424	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.63046	0.992;0.972;0.984;0.984	B;B;B;B	0.43658	0.386;0.245;0.426;0.426	T	0.53322	-0.8455	10	0.87932	D	0	.	18.914	0.92498	0.0:0.0:1.0:0.0	.	516;569;473;453	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	C	473;453;516;569	ENSP00000323557:R473C;ENSP00000373542:R453C;ENSP00000419845:R516C;ENSP00000419765:R569C	ENSP00000323557:R473C	R	-	1	0	BRD9	917672	1.000000	0.71417	0.953000	0.39169	0.624000	0.37722	8.319000	0.89992	2.571000	0.86741	0.561000	0.74099	CGC		0.587	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		11	44	0	0	0	1	0	11	44				
LPGAT1	9926	broad.mit.edu	37	1	212002666	212002666	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:212002666C>G	ENST00000366997.4	-	2	200		c.e2-1		RP11-552D8.1_ENST00000429499.1_RNA|LPGAT1_ENST00000488600.1_Intron|RP11-552D8.1_ENST00000446560.1_RNA|RP11-552D8.1_ENST00000430623.1_RNA|RP11-552D8.1_ENST00000457272.1_RNA|LPGAT1_ENST00000366996.1_Splice_Site	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCCTGTCTTTCTGGGGTGAAA	0.433																																						ENST00000366997.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e2-1		lysophosphatidylglycerol acyltransferase 1							81.0	81.0	81.0					1																	212002666		2203	4300	6503	SO:0001630	splice_region_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:212002666C>G	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.27-1G>C	1.37:g.212002666C>G						LPGAT1_ENST00000366996.1_Splice_Site|LPGAT1_ENST00000488600.1_Intron		NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	2	200	-								Q53YL2	Splice_Site	SNP	ENST00000366997.4	37		CCDS31018.1																																																																																				0.433	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873	Intron	29	100	0	0	0	1	0	29	100				
MYO9A	4649	broad.mit.edu	37	15	72193586	72193586	+	Silent	SNP	G	G	C	rs535464204		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:72193586G>C	ENST00000356056.5	-	23	3568	c.3096C>G	c.(3094-3096)gtC>gtG	p.V1032V	MYO9A_ENST00000424560.1_Silent_p.V1032V|MYO9A_ENST00000564571.1_Silent_p.V1032V|MYO9A_ENST00000444904.1_Silent_p.V1013V|MYO9A_ENST00000566885.1_Silent_p.V652V|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1032	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACACAGCAAGACCCTGAACC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18325	0.0		0.0	False		,,,				2504	0.0					ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3094-3096)gtC>gtG		myosin IXA							130.0	108.0	115.0					15																	72193586		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72193586G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3096C>G	15.37:g.72193586G>C						MYO9A_ENST00000424560.1_Silent_p.V1032V|MYO9A_ENST00000566885.1_Silent_p.V652V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.V1032V|MYO9A_ENST00000444904.1_Silent_p.V1013V	p.V1032V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			23	3568	-			1032			IQ 1.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.3096C>G	CCDS10239.1																																																																																				0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	31	0	0	0	1	0	20	31				
CENPM	79019	broad.mit.edu	37	22	42341930	42341930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42341930G>A	ENST00000215980.5	-	3	304	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	CENPM_ENST00000402338.1_Missense_Mutation_p.H39Y|CENPM_ENST00000404067.1_Missense_Mutation_p.H39Y|CENPM_ENST00000407253.3_Missense_Mutation_p.H73Y|CENPM_ENST00000402420.1_Missense_Mutation_p.H39Y	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	73					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						TATTTGCTGTGAAGATTAACC	0.537																																						ENST00000402338.1																			0				kidney(1)|large_intestine(1)|prostate(1)	3						c.(115-117)Cac>Tac		centromere protein M							69.0	61.0	64.0					22																	42341930		2203	4300	6503	SO:0001583	missense	79019				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus		g.chr22:42341930G>A	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.217C>T	22.37:g.42341930G>A	ENSP00000215980:p.His73Tyr					CENPM_ENST00000215980.5_Missense_Mutation_p.H73Y|CENPM_ENST00000407253.3_Missense_Mutation_p.H73Y|CENPM_ENST00000404067.1_Missense_Mutation_p.H39Y|CENPM_ENST00000402420.1_Missense_Mutation_p.H39Y	p.H39Y			Q9NSP4	CENPM_HUMAN			2	356	-			73					A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	37	c.115C>T	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721108	0.68959	.	.	ENSG00000100162	ENST00000215980;ENST00000404067;ENST00000402338;ENST00000407253;ENST00000402420	.	.	.	4.99	4.99	0.66335	.	0.438834	0.26510	N	0.023963	T	0.68888	0.3050	L	0.59436	1.845	0.37019	D	0.896095	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.69824	0.918;0.939;0.966	T	0.71279	-0.4640	9	0.37606	T	0.19	-9.9275	11.3334	0.49490	0.0:0.0:0.8188:0.1812	.	73;73;73	Q9NSP4-2;B1AHQ9;Q9NSP4	.;.;CENPM_HUMAN	Y	73;39;39;73;39	.	ENSP00000215980:H73Y	H	-	1	0	CENPM	40671876	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.504000	0.53347	2.500000	0.84329	0.561000	0.74099	CAC		0.537	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		5	36	0	0	0	1	0	5	36				
CYP2C19	1557	broad.mit.edu	37	10	96609722	96609722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96609722G>C	ENST00000371321.3	+	8	1280	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	400					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGACAACAAAGAATTTCCCAA	0.403																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1198-1200)Gaa>Caa		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						168.0	156.0	160.0					10																	96609722		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96609722G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1198G>C	10.37:g.96609722G>C	ENSP00000360372:p.Glu400Gln					CYP2C19_ENST00000464755.1_3'UTR	p.E400Q	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1280	+		Colorectal(252;0.09)	400					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1198G>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578927	0.13686	.	.	ENSG00000165841	ENST00000371321	T	0.69306	-0.39	3.5	1.38	0.22167	.	1.204320	0.06494	U	0.735048	T	0.50326	0.1609	L	0.45051	1.395	0.09310	N	1	P	0.36959	0.575	B	0.29353	0.101	T	0.44143	-0.9347	10	0.38643	T	0.18	.	1.93	0.03325	0.1227:0.1975:0.478:0.2018	.	400	P33261	CP2CJ_HUMAN	Q	400	ENSP00000360372:E400Q	ENSP00000360372:E400Q	E	+	1	0	CYP2C19	96599712	0.191000	0.23288	0.108000	0.21378	0.014000	0.08584	0.908000	0.28545	0.583000	0.29574	-0.199000	0.12753	GAA		0.403	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		31	114	0	0	0	1	0	31	114				
TAB1	10454	broad.mit.edu	37	22	39826098	39826098	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:39826098C>T	ENST00000216160.6	+	11	1448	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	462					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GAGGCCTCTTCCGCTCCCGGC	0.642																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1384-1386)ttC>ttT		TGF-beta activated kinase 1/MAP3K7 binding protein 1							84.0	76.0	79.0					22																	39826098		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39826098C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1386C>T	22.37:g.39826098C>T						TAB1_ENST00000331454.3_Intron	p.F462F	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			11	1448	+			462					Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.1386C>T	CCDS13993.1																																																																																				0.642	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		16	101	0	0	0	1	0	16	101				
YIPF3	25844	broad.mit.edu	37	6	43483629	43483629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43483629G>A	ENST00000372422.2	-	2	468	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	YIPF3_ENST00000506469.1_Nonsense_Mutation_p.Q102*|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	96					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGCTTACCTGATCTGCCACC	0.532																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(286-288)Cag>Tag		Yip1 domain family, member 3							82.0	76.0	78.0					6																	43483629		2203	4300	6503	SO:0001587	stop_gained	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43483629G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.286C>T	6.37:g.43483629G>A	ENSP00000361499:p.Gln96*					YIPF3_ENST00000506469.1_Nonsense_Mutation_p.Q102*	p.Q96*	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		2	468	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		96					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Nonsense_Mutation	SNP	ENST00000372422.2	37	c.286C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470414	0.96274	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	.	.	.	5.7	5.7	0.88788	.	0.056709	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.4353	14.483	0.67594	0.0:0.1463:0.8537:0.0	.	.	.	.	X	96;96;102;96;61	.	ENSP00000259737:Q96X	Q	-	1	0	YIPF3	43591607	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.065000	0.64344	2.687000	0.91594	0.460000	0.39030	CAG		0.532	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		20	98	0	0	0	1	0	20	98				
SCN4A	6329	broad.mit.edu	37	17	62041913	62041913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62041913G>T	ENST00000435607.1	-	9	1443	c.1367C>A	c.(1366-1368)gCc>gAc	p.A456D	SCN4A_ENST00000578147.1_Missense_Mutation_p.A456D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	456					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGGGTGGCCTCATTCTG	0.522																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1366-1368)gCc>gAc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						78.0	75.0	76.0					17																	62041913		1964	4151	6115	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62041913G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1367C>A	17.37:g.62041913G>T	ENSP00000396320:p.Ala456Asp					SCN4A_ENST00000578147.1_Missense_Mutation_p.A456D	p.A456D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			9	1443	-			456					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1367C>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.601091	0.87055	.	.	ENSG00000007314	ENST00000435607	D	0.96522	-4.04	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96953	0.9005	M	0.81497	2.545	0.80722	D	1	D	0.58268	0.982	P	0.49999	0.628	D	0.97340	0.9956	10	0.59425	D	0.04	.	17.2433	0.87021	0.0:0.0:1.0:0.0	.	456	P35499	SCN4A_HUMAN	D	456	ENSP00000396320:A456D	ENSP00000396320:A456D	A	-	2	0	SCN4A	59395645	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.706000	0.84615	2.533000	0.85409	0.457000	0.33378	GCC		0.522	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		12	30	1	0	5.50884e-06	1	5.66018e-06	12	30				
CREB3L3	84699	broad.mit.edu	37	19	4164557	4164557	+	Missense_Mutation	SNP	G	G	A	rs540604714		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4164557G>A	ENST00000078445.2	+	5	781	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CREB3L3_ENST00000602147.1_Missense_Mutation_p.E212K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E210K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E211K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E152K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	212					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTGTCAGGAGCTGGTGCT	0.612																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(634-636)Gag>Aag		cAMP responsive element binding protein 3-like 3							94.0	84.0	88.0					19																	4164557		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4164557G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.634G>A	19.37:g.4164557G>A	ENSP00000078445:p.Glu212Lys					CREB3L3_ENST00000595923.1_Missense_Mutation_p.E211K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E152K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E210K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E212K	p.E212K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	5	781	+			212					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.634G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197979	0.79015	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.82711	-1.64;-1.64	4.99	4.99	0.66335	.	0.746522	0.12913	N	0.428760	D	0.88273	0.6392	L	0.55743	1.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.992	D;D;D;D	0.87578	0.998;0.98;0.959;0.911	T	0.82627	-0.0364	10	0.09843	T	0.71	-3.0683	16.8461	0.85981	0.0:0.0:1.0:0.0	.	212;210;211;212	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	K	212;212;152	ENSP00000078445:E212K;ENSP00000252587:E152K	ENSP00000078445:E212K	E	+	1	0	CREB3L3	4115557	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.278000	0.78587	2.306000	0.77630	0.561000	0.74099	GAG		0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		29	84	0	0	0	1	0	29	84				
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e1+1		GDP dissociation inhibitor 1							68.0	45.0	53.0					X																	153665646		2201	4300	6501	SO:0001630	splice_region_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153665646G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.45+1G>A	X.37:g.153665646G>A								NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			1	380	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Splice_Site	SNP	ENST00000447750.2	37		CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469539	0.43839	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1083	0.53825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDI1	153318840	1.000000	0.71417	0.982000	0.44146	0.236000	0.25371	8.579000	0.90781	1.690000	0.51089	0.284000	0.19432	.		0.697	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493	Intron	9	12	0	0	0	1	0	9	12				
POLDIP3	84271	broad.mit.edu	37	22	42998010	42998010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998010C>T	ENST00000252115.5	-	3	607	c.503G>A	c.(502-504)aGa>aAa	p.R168K	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Missense_Mutation_p.R12K	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	168					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						AACATTGATTCTCATTCCGGC	0.502																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(502-504)aGa>aAa		polymerase (DNA-directed), delta interacting protein 3							261.0	222.0	235.0					22																	42998010		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998010C>T		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.503G>A	22.37:g.42998010C>T	ENSP00000252115:p.Arg168Lys					POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Missense_Mutation_p.R12K	p.R168K	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			3	607	-			168					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.503G>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583921	0.46110	.	.	ENSG00000100227	ENST00000252115;ENST00000451060	.	.	.	5.19	3.1	0.35709	.	0.382329	0.29192	N	0.012869	T	0.45498	0.1345	L	0.52573	1.65	0.36063	D	0.841576	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.42015	-0.9476	9	0.09590	T	0.72	-4.8946	10.0118	0.41990	0.0:0.7824:0.0:0.2176	.	185;164;168	B4E0L0;Q96DI9;Q9BY77	.;.;PDIP3_HUMAN	K	168;12	.	ENSP00000252115:R168K	R	-	2	0	POLDIP3	41327954	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.072000	0.30678	0.592000	0.29728	0.561000	0.74099	AGA		0.502	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		19	98	0	0	0	1	0	19	98				
USP34	9736	broad.mit.edu	37	2	61524018	61524018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:61524018A>T	ENST00000398571.2	-	30	4247	c.4171T>A	c.(4171-4173)Tct>Act	p.S1391T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1391					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCCGCCTAGACAGATTTTCT	0.388																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(4171-4173)Tct>Act		ubiquitin specific peptidase 34							167.0	160.0	162.0					2																	61524018		1886	4115	6001	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61524018A>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4171T>A	2.37:g.61524018A>T	ENSP00000381577:p.Ser1391Thr						p.S1391T	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		30	4247	-			1391					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4171T>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	33	5.244622	0.95272	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.08458	3.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.57536	1.79	0.58432	D	0.999999	P	0.49447	0.924	P	0.60682	0.878	T	0.00382	-1.1775	10	0.32370	T	0.25	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	1391	Q70CQ2	UBP34_HUMAN	T	1239;1239;1391	ENSP00000381577:S1391T	ENSP00000263989:S1239T	S	-	1	0	USP34	61377522	1.000000	0.71417	0.912000	0.35992	0.971000	0.66376	9.248000	0.95456	2.221000	0.72209	0.528000	0.53228	TCT		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			19	104	0	0	0	1	0	19	104				
TPM4	7171	broad.mit.edu	37	19	16192732	16192732	+	Missense_Mutation	SNP	G	G	C	rs116258660	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:16192732G>C	ENST00000300933.4	+	2	402	c.142G>C	c.(142-144)Gat>Cat	p.D48H	TPM4_ENST00000538887.1_Missense_Mutation_p.D84H|TPM4_ENST00000344824.6_Missense_Mutation_p.D84H	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	48					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GGCTGAAGGTGATGTGGCCGC	0.617			T	ALK	ALCL																																	ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(142-144)Gat>Cat		tropomyosin 4							45.0	47.0	47.0					19																	16192732		2203	4300	6503	SO:0001583	missense	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16192732G>C		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.142G>C	19.37:g.16192732G>C	ENSP00000300933:p.Asp48His					TPM4_ENST00000538887.1_Missense_Mutation_p.D84H|TPM4_ENST00000344824.6_Missense_Mutation_p.D84H	p.D48H	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			2	402	+			48					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	c.142G>C	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697230	0.88830	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.97665	-4.48;-4.48;-4.48	4.62	4.62	0.57501	.	0.098893	0.38778	U	0.001569	D	0.98409	0.9471	M	0.91300	3.195	0.58432	D	0.999998	P;B	0.49358	0.923;0.441	P;P	0.56343	0.796;0.574	D	0.99795	1.1033	10	0.87932	D	0	-17.9181	16.8417	0.85971	0.0:0.0:1.0:0.0	.	48;84	P67936;P67936-2	TPM4_HUMAN;.	H	84;84;48	ENSP00000345230:D84H;ENSP00000439135:D84H;ENSP00000300933:D48H	ENSP00000300933:D48H	D	+	1	0	TPM4	16053732	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.666000	0.83877	2.265000	0.75225	0.591000	0.81541	GAT		0.617	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		16	45	0	0	0	1	0	16	45				
PXDNL	137902	broad.mit.edu	37	8	52320655	52320655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:52320655C>A	ENST00000356297.4	-	17	3629	c.3529G>T	c.(3529-3531)Gat>Tat	p.D1177Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1177Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1177					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCTCTGAATCTTTAATTTCA	0.353																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3529-3531)Gat>Tat		peroxidasin homolog (Drosophila)-like							56.0	55.0	55.0					8																	52320655		1827	4085	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320655C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3529G>T	8.37:g.52320655C>A	ENSP00000348645:p.Asp1177Tyr					PXDNL_ENST00000543296.1_Missense_Mutation_p.D1177Y	p.D1177Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3629	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1177					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3529G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.882|3.882	-0.025785|-0.025785	0.07589|0.07589	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|T	0.76968|0.68765	-1.06;-1.06|-0.35	3.82|3.82	2.91|2.91	0.33838|0.33838	.|.	0.361796|.	0.22961|.	N|.	0.053542|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.91406|0.91406	3.205|3.205	0.29531|0.29531	N|N	0.852764|0.852764	D|.	0.58970|.	0.984|.	D|.	0.65323|.	0.934|.	T|T	0.69228|0.69228	-0.5200|-0.5200	10|7	0.87932|0.30078	D|T	0|0.28	.|.	6.4271|6.4271	0.21776|0.21776	0.0:0.7602:0.0:0.2398|0.0:0.7602:0.0:0.2398	.|.	1177|.	A1KZ92|.	PXDNL_HUMAN|.	Y|N	1177|295	ENSP00000348645:D1177Y;ENSP00000444865:D1177Y|ENSP00000428114:K295N	ENSP00000348645:D1177Y|ENSP00000428114:K295N	D|K	-|-	1|3	0|2	PXDNL|PXDNL	52483208|52483208	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.006000|0.006000	0.05464|0.05464	1.791000|1.791000	0.38744|0.38744	0.542000|0.542000	0.28846|0.28846	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.353	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	42	1	0	0.000442599	1	0.000449327	10	42				
OR52I2	143502	broad.mit.edu	37	11	4608662	4608662	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4608662C>G	ENST00000312614.4	+	1	642	c.620C>G	c.(619-621)tCc>tGc	p.S207C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGTCCACTCCTACTGTGAG	0.502																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(619-621)tCc>tGc		olfactory receptor, family 52, subfamily I, member 2							179.0	170.0	174.0					11																	4608662		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608662C>G	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.620C>G	11.37:g.4608662C>G	ENSP00000308764:p.Ser207Cys						p.S207C	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	642	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	207					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.620C>G	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639765	0.47153	.	.	ENSG00000226288	ENST00000312614	T	0.37752	1.18	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000460	T	0.48259	0.1490	L	0.50919	1.6	0.34584	D	0.714781	D	0.89917	1.0	D	0.97110	1.0	T	0.59994	-0.7349	10	0.56958	D	0.05	-17.0422	6.3779	0.21517	0.0:0.7969:0.0:0.2031	.	207	Q8NH67	O52I2_HUMAN	C	207	ENSP00000308764:S207C	ENSP00000308764:S207C	S	+	2	0	OR52I2	4565238	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	0.202000	0.17295	2.187000	0.69744	0.644000	0.83932	TCC		0.502	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		35	152	0	0	0	1	0	35	152				
ITPR3	3710	broad.mit.edu	37	6	33633651	33633651	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33633651C>A	ENST00000374316.5	+	15	2509	c.1449C>A	c.(1447-1449)gtC>gtA	p.V483V	ITPR3_ENST00000605930.1_Silent_p.V483V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	483					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGTTCTTTGTCAGCGATGTCC	0.562																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1447-1449)gtC>gtA		inositol 1,4,5-trisphosphate receptor, type 3							147.0	107.0	121.0					6																	33633651		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33633651C>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1449C>A	6.37:g.33633651C>A						ITPR3_ENST00000605930.1_Silent_p.V483V	p.V483V			Q14573	ITPR3_HUMAN			15	2509	+			483					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.1449C>A	CCDS4783.1																																																																																				0.562	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	53	1	0	5.4927e-09	1	5.70631e-09	6	53				
GNAS	2778	broad.mit.edu	37	20	57430097	57430097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:57430097C>T	ENST00000371100.4	+	1	2329	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q593*|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q593*|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.F529F	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGGTTTCAGCATCGGCG	0.642			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(1777-1779)Cag>Tag		GNAS complex locus							18.0	24.0	22.0					20																	57430097		2027	4177	6204	SO:0001587	stop_gained	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57430097C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1777C>T	20.37:g.57430097C>T	ENSP00000360141:p.Gln593*	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q593*|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q593*|GNAS_ENST00000306120.3_Silent_p.F529F|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron	p.Q593*	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	2329	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	ENST00000371100.4	37	c.1777C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221883	0.58560	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	.	.	.	3.56	1.49	0.22878	.	7.952310	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.2043	0.10481	0.2259:0.6487:0.0:0.1253	.	.	.	.	X	593	.	ENSP00000360140:Q593X	Q	+	1	0	GNAS	56863492	0.010000	0.17322	0.000000	0.03702	0.010000	0.07245	0.845000	0.27668	0.276000	0.22118	0.462000	0.41574	CAG		0.642	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		9	34	0	0	0	1	0	9	34				
FN1	2335	broad.mit.edu	37	2	216299457	216299457	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:216299457C>A	ENST00000359671.1	-	2	504	c.239G>T	c.(238-240)gGa>gTa	p.G80V	FN1_ENST00000354785.4_Missense_Mutation_p.G80V|FN1_ENST00000323926.6_Missense_Mutation_p.G80V|FN1_ENST00000356005.4_Missense_Mutation_p.G80V|FN1_ENST00000336916.4_Missense_Mutation_p.G80V|FN1_ENST00000432072.2_Missense_Mutation_p.G80V|FN1_ENST00000346544.3_Missense_Mutation_p.G80V|FN1_ENST00000426059.1_Missense_Mutation_p.G80V|FN1_ENST00000357009.2_Missense_Mutation_p.G80V|FN1_ENST00000421182.1_Missense_Mutation_p.G80V|FN1_ENST00000345488.5_Missense_Mutation_p.G80V|FN1_ENST00000357867.4_Missense_Mutation_p.G80V|FN1_ENST00000446046.1_Missense_Mutation_p.G80V|FN1_ENST00000443816.1_Missense_Mutation_p.G80V|AC012462.1_ENST00000412951.1_RNA			P02751	FINC_HUMAN	fibronectin 1	80	Fibrin- and heparin-binding 1.|Fibronectin type-I 1. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCGGCTTCCTCCATAACAAGT	0.403																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(238-240)gGa>gTa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						210.0	193.0	199.0					2																	216299457		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216299457C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.239G>T	2.37:g.216299457C>A	ENSP00000352696:p.Gly80Val					FN1_ENST00000357867.4_Missense_Mutation_p.G80V|FN1_ENST00000345488.5_Missense_Mutation_p.G80V|FN1_ENST00000357009.2_Missense_Mutation_p.G80V|FN1_ENST00000356005.4_Missense_Mutation_p.G80V|FN1_ENST00000336916.4_Missense_Mutation_p.G80V|FN1_ENST00000323926.6_Missense_Mutation_p.G80V|FN1_ENST00000346544.3_Missense_Mutation_p.G80V|FN1_ENST00000446046.1_Missense_Mutation_p.G80V|FN1_ENST00000426059.1_Missense_Mutation_p.G80V|FN1_ENST00000443816.1_Missense_Mutation_p.G80V|FN1_ENST00000432072.2_Missense_Mutation_p.G80V|FN1_ENST00000421182.1_Missense_Mutation_p.G80V|FN1_ENST00000359671.1_Missense_Mutation_p.G80V	p.G80V			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	2	608	-		Renal(323;0.127)	80			Fibrin- and heparin-binding 1.|Fibronectin type-I 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.239G>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.794350	0.90453	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	D	0.96278	0.8786	L	0.60455	1.87	0.80722	D	1	D;D;B;B;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.371;0.103;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;B;B;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.36;0.026;0.99;0.994;0.99;0.981;0.99;0.99;1.0	D	0.95978	0.8975	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	80;80;80;80;80;80;80;80;80;80;80	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	V	80	ENSP00000394423:G80V;ENSP00000323534:G80V;ENSP00000338200:G80V;ENSP00000350534:G80V;ENSP00000346839:G80V;ENSP00000352696:G80V;ENSP00000265312:G80V;ENSP00000273049:G80V;ENSP00000349509:G80V;ENSP00000410422:G80V;ENSP00000415018:G80V;ENSP00000399538:G80V;ENSP00000348285:G80V;ENSP00000398907:G80V	ENSP00000265313:G80V	G	-	2	0	FN1	216007702	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.742000	0.68646	2.882000	0.98803	0.655000	0.94253	GGA		0.403	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		21	99	1	0	0.000295444	1	0.000300587	21	99				
STOX1	219736	broad.mit.edu	37	10	70646267	70646267	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:70646267C>T	ENST00000298596.6	+	3	2798	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.N905N|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.N795N	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	905						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AACTTTTCAACACTTCACATA	0.433																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2713-2715)aaC>aaT		storkhead box 1							70.0	71.0	71.0					10																	70646267		2047	4228	6275	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70646267C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2715C>T	10.37:g.70646267C>T						STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.N795N|STOX1_ENST00000399169.4_Silent_p.N905N	p.N905N	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2798	+			905					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.2715C>T	CCDS41535.1																																																																																				0.433	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		13	72	0	0	0	1	0	13	72				
FAM184A	79632	broad.mit.edu	37	6	119345435	119345435	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:119345435C>G	ENST00000338891.7	-	2	1146	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.E235Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.E115Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.E115Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E115Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	235						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTAGCTCCTCAAGCATTTTG	0.413																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(703-705)Gag>Cag		family with sequence similarity 184, member A							111.0	100.0	103.0					6																	119345435		1920	4120	6040	SO:0001583	missense	79632							g.chr6:119345435C>G	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.703G>C	6.37:g.119345435C>G	ENSP00000342604:p.Glu235Gln					FAM184A_ENST00000368475.4_Missense_Mutation_p.E115Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E115Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.E235Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.E115Q|RP11-351A11.1_ENST00000518570.1_RNA	p.E235Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			2	1146	-			235					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.703G>C	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403799	0.42613	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00366	7.79;7.79;7.79;7.79;7.79	5.51	4.63	0.57726	.	0.049220	0.85682	D	0.000000	T	0.00271	0.0008	L	0.59436	1.845	0.53688	D	0.99997	P;P;P	0.45044	0.669;0.849;0.669	P;P;P	0.49829	0.506;0.623;0.506	D	0.86852	0.2024	10	0.31617	T	0.26	-8.0973	15.0695	0.72024	0.0:0.9304:0.0:0.0696	.	235;115;235	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	235;115;115;235;115	ENSP00000342604:E235Q;ENSP00000326608:E115Q;ENSP00000357460:E115Q;ENSP00000430442:E235Q;ENSP00000429826:E115Q	ENSP00000342604:E235Q	E	-	1	0	FAM184A	119387134	1.000000	0.71417	0.416000	0.26546	0.005000	0.04900	4.469000	0.60169	1.431000	0.47355	0.655000	0.94253	GAG		0.413	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	43	0	0	0	1	0	11	43				
WDR55	54853	broad.mit.edu	37	5	140048500	140048500	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140048500C>G	ENST00000358337.5	+	5	822	c.585C>G	c.(583-585)ttC>ttG	p.F195L		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	195					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCATCTTCAACATTAAGA	0.527																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(583-585)ttC>ttG		WD repeat domain 55							79.0	73.0	75.0					5																	140048500		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048500C>G	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.585C>G	5.37:g.140048500C>G	ENSP00000351100:p.Phe195Leu						p.F195L	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	822	+			195					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.585C>G	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489050	0.44249	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.44	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.68317	2.08	0.80722	D	1	B;D	0.64830	0.34;0.994	B;D	0.71656	0.155;0.974	T	0.52779	-0.8530	10	0.62326	D	0.03	-7.8737	13.4568	0.61204	0.0:0.9216:0.0:0.0784	.	34;195	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	L	195	ENSP00000351100:F195L	ENSP00000351100:F195L	F	+	3	2	WDR55	140028684	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	3.554000	0.53720	2.545000	0.85829	0.467000	0.42956	TTC		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		12	55	0	0	0	1	0	12	55				
KMT2A	4297	broad.mit.edu	37	11	118370550	118370550	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:118370550G>T	ENST00000389506.5	+	24	6071	c.6071G>T	c.(6070-6072)gGg>gTg	p.G2024V	KMT2A_ENST00000534358.1_Splice_Site_p.G2027V|KMT2A_ENST00000354520.4_Splice_Site_p.G1986V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2024	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCTTGGTCAGGGTCTATGACA	0.418																																						ENST00000534358.1																			0											c.e24-1		lysine (K)-specific methyltransferase 2A							122.0	119.0	120.0					11																	118370550		2200	4296	6496	SO:0001630	splice_region_variant	4297							g.chr11:118370550G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6071-1G>T	11.37:g.118370550G>T						KMT2A_ENST00000354520.4_Splice_Site_p.G1986_splice|KMT2A_ENST00000389506.5_Splice_Site_p.G2024_splice	p.G2027_splice	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					24	6103	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Splice_Site	SNP	ENST00000389506.5	37	c.6079_splice	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331025	0.60853	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.80393	-1.37;-1.37;-1.37	5.48	5.48	0.80851	FY-rich, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92764	0.6226	9	.	.	.	.	19.3542	0.94404	0.0:0.0:1.0:0.0	.	2027;2024	E9PQG7;Q03164	.;MLL1_HUMAN	V	2027;2024;1986;934	ENSP00000436786:G2027V;ENSP00000374157:G2024V;ENSP00000346516:G1986V	.	G	+	2	0	MLL	117875760	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.766000	0.98957	2.575000	0.86900	0.655000	0.94253	GGG		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	Missense_Mutation	24	53	1	0	7.92952e-12	1	8.31177e-12	24	53				
FAM83C	128876	broad.mit.edu	37	20	33879981	33879981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33879981C>T	ENST00000374408.3	-	1	223	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	43										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGAGCCGCCTCGCTGTGCCGC	0.741																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(127-129)Gag>Aag		family with sequence similarity 83, member C							12.0	11.0	11.0					20																	33879981		1720	3551	5271	SO:0001583	missense	128876							g.chr20:33879981C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.127G>A	20.37:g.33879981C>T	ENSP00000363529:p.Glu43Lys						p.E43K	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	223	-			43					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.127G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	36	5.671009	0.96754	.	.	ENSG00000125998	ENST00000374408	T	0.31510	1.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68364	-0.5428	10	0.87932	D	0	-19.5563	17.8455	0.88729	0.0:1.0:0.0:0.0	.	43	Q9BQN1	FA83C_HUMAN	K	43	ENSP00000363529:E43K	ENSP00000363529:E43K	E	-	1	0	FAM83C	33343395	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	7.693000	0.84214	2.541000	0.85698	0.462000	0.41574	GAG		0.741	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			8	33	0	0	0	1	0	8	33				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652522	45652522	+	RNA	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:45652522G>C	ENST00000427229.2	+	0	2036																											TGTAAAGACTGAATGCGTGGC	0.373																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652522G>C																													10.37:g.45652522G>C														0	2036	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.373	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			4	18	0	0	0	1	0	4	18				
ST5	6764	broad.mit.edu	37	11	8737229	8737229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737229G>C	ENST00000534127.1	-	9	2151	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	ST5_ENST00000357665.1_Nonsense_Mutation_p.S589*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S589*|ST5_ENST00000526757.1_Nonsense_Mutation_p.S169*|ST5_ENST00000530991.1_Nonsense_Mutation_p.S61*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S169*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S102*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	589					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGAGGGTGAGGACGGCAG	0.642																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1765-1767)tCa>tGa		suppression of tumorigenicity 5							82.0	74.0	77.0					11																	8737229		2201	4296	6497	SO:0001587	stop_gained	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737229G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1766C>G	11.37:g.8737229G>C	ENSP00000433528:p.Ser589*					ST5_ENST00000526757.1_Nonsense_Mutation_p.S169*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S589*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S102*|ST5_ENST00000530991.1_Nonsense_Mutation_p.S61*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S589*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S169*	p.S589*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2151	-			589					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	ENST00000534127.1	37	c.1766C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	42	9.201834	0.99098	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.9461	19.4701	0.94959	0.0:0.0:1.0:0.0	.	.	.	.	X	169;589;589;61;589;102;169;61;199;61;61;78	.	ENSP00000319678:S589X	S	-	2	0	ST5	8693805	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	8.567000	0.90737	2.604000	0.88044	0.655000	0.94253	TCA		0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		17	81	0	0	0	1	0	17	81				
PPRC1	23082	broad.mit.edu	37	10	103906776	103906776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103906776C>G	ENST00000278070.2	+	9	4066	c.4027C>G	c.(4027-4029)Ccg>Gcg	p.P1343A	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCTGCCCCTCCGCCCCCATG	0.617																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4027-4029)Ccg>Gcg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							48.0	43.0	45.0					10																	103906776		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906776C>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4027C>G	10.37:g.103906776C>G	ENSP00000278070:p.Pro1343Ala					PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310A|PPRC1_ENST00000489648.1_Intron	p.P1343A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4066	+		Colorectal(252;0.122)	1343					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4027C>G	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	4.222	0.040086	0.08148	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.28895	1.99;1.59	5.55	-5.52	0.02560	.	0.960668	0.08661	N	0.912378	T	0.14227	0.0344	L	0.29908	0.895	0.09310	N	1	B;B	0.19706	0.038;0.022	B;B	0.18871	0.023;0.01	T	0.36648	-0.9739	10	0.09590	T	0.72	.	3.7267	0.08477	0.0902:0.4035:0.3113:0.195	.	1223;1343	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	A	1343;310	ENSP00000278070:P1343A;ENSP00000359029:P310A	ENSP00000278070:P1343A	P	+	1	0	PPRC1	103896766	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.740000	0.04861	-0.580000	0.05944	0.462000	0.41574	CCG		0.617	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	45	0	0	0	1	0	8	45				
ACAP3	116983	broad.mit.edu	37	1	1233785	1233785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1233785G>A	ENST00000354700.5	-	12	1082	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	ACAP3_ENST00000353662.3_Nonsense_Mutation_p.Q252*|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	294	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TGGCTGTTCTGAATGGAGAAC	0.687																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(880-882)Cag>Tag		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							47.0	53.0	51.0					1																	1233785		2200	4298	6498	SO:0001587	stop_gained	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233785G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.880C>T	1.37:g.1233785G>A	ENSP00000346733:p.Gln294*					ACAP3_ENST00000353662.3_Nonsense_Mutation_p.Q252*	p.Q294*	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			12	1082	-			294			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Nonsense_Mutation	SNP	ENST00000354700.5	37	c.880C>T	CCDS19.2	.	.	.	.	.	.	.	.	.	.	g	39	7.387438	0.98252	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	.	.	.	2.92	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.0692	0.72021	0.0:0.0:1.0:0.0	.	.	.	.	X	294;252	.	ENSP00000321139:Q252X	Q	-	1	0	ACAP3	1223648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.874000	0.92363	1.952000	0.56665	0.450000	0.29827	CAG		0.687	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		14	78	0	0	0	1	0	14	78				
TOX4	9878	broad.mit.edu	37	14	21960908	21960908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:21960908C>G	ENST00000405508.1	+	8	1409	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	TOX4_ENST00000448790.2_Missense_Mutation_p.S355C|TOX4_ENST00000262709.3_Missense_Mutation_p.S378C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	378						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGCCCTCTTCTATTACTATG	0.498																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1132-1134)tCt>tGt		TOX high mobility group box family member 4							106.0	113.0	111.0					14																	21960908		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960908C>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1133C>G	14.37:g.21960908C>G	ENSP00000385102:p.Ser378Cys					TOX4_ENST00000448790.2_Missense_Mutation_p.S355C|TOX4_ENST00000262709.3_Missense_Mutation_p.S378C	p.S378C			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1409	+	all_cancers(95;0.000465)		378					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1133C>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124328	0.56613	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.16597	2.33;2.33;2.35	4.89	4.89	0.63831	.	0.193385	0.31381	N	0.007754	T	0.22859	0.0552	N	0.08118	0	0.45502	D	0.998468	D;D	0.63046	0.992;0.992	D;D	0.70935	0.971;0.971	T	0.22277	-1.0221	10	0.41790	T	0.15	.	17.3305	0.87262	0.0:1.0:0.0:0.0	.	355;378	B4DPY8;O94842	.;TOX4_HUMAN	C	378;378;355;306	ENSP00000385102:S378C;ENSP00000262709:S378C;ENSP00000393080:S355C	ENSP00000262709:S378C	S	+	2	0	TOX4	21030748	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.598000	0.61069	2.703000	0.92315	0.555000	0.69702	TCT		0.498	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		30	100	0	0	0	1	0	30	100				
QSOX2	169714	broad.mit.edu	37	9	139115958	139115958	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657																																						ENST00000358701.5																			1	Substitution - Missense(1)	p.G160E(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e4-1		quiescin Q6 sulfhydryl oxidase 2							88.0	75.0	80.0					9																	139115958		2203	4300	6503	SO:0001630	splice_region_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139115958C>T	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.479-1G>A	9.37:g.139115958C>T							p.G160_splice	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	4	516	-		Myeloproliferative disorder(178;0.0511)	160			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Splice_Site	SNP	ENST00000358701.5	37	c.478_splice	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450778	0.63290	.	.	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.69175	-0.38	5.18	5.18	0.71444	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76798	-0.2826	10	0.02654	T	1	.	17.672	0.88221	0.0:1.0:0.0:0.0	.	160	Q6ZRP7	QSOX2_HUMAN	E	160;38	ENSP00000351536:G160E	ENSP00000351536:G160E	G	-	2	0	QSOX2	138255779	1.000000	0.71417	0.947000	0.38551	0.151000	0.21798	6.781000	0.75068	2.419000	0.82065	0.467000	0.42956	GGA		0.657	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	Missense_Mutation	18	63	0	0	0	1	0	18	63				
ANK3	288	broad.mit.edu	37	10	61832133	61832133	+	Missense_Mutation	SNP	G	G	A	rs199656517		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61832133G>A	ENST00000280772.2	-	37	8697	c.8506C>T	c.(8506-8508)Cat>Tat	p.H2836Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2836					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGTTATATGACATGCCAAG	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		18184	0.001		0.0	False		,,,				2504	0.0					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8506-8508)Cat>Tat		ankyrin 3, node of Ranvier (ankyrin G)							102.0	102.0	102.0					10																	61832133		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832133G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8506C>T	10.37:g.61832133G>A	ENSP00000280772:p.His2836Tyr					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.H2836Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8697	-			2836					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8506C>T	CCDS7258.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.71	1.427430	0.25726	.	.	ENSG00000151150	ENST00000280772	T	0.62941	-0.01	5.73	3.68	0.42216	.	0.653838	0.12866	N	0.432702	T	0.39091	0.1065	N	0.08118	0	0.58432	D	0.999996	B	0.17268	0.021	B	0.17433	0.018	T	0.13124	-1.0521	10	0.08179	T	0.78	.	12.3467	0.55124	0.0:0.0:0.65:0.35	.	2836	Q12955	ANK3_HUMAN	Y	2836	ENSP00000280772:H2836Y	ENSP00000280772:H2836Y	H	-	1	0	ANK3	61502139	0.770000	0.28543	0.998000	0.56505	0.995000	0.86356	1.167000	0.31847	1.383000	0.46405	0.555000	0.69702	CAT		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		21	79	0	0	0	1	0	21	79				
ZNF45	7596	broad.mit.edu	37	19	44418406	44418406	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44418406C>T	ENST00000269973.5	-	10	2272	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	ZNF45_ENST00000589703.1_Silent_p.G394G|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	394					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AGAAGCCTTTCCCACACTCCT	0.512																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1180-1182)ggG>ggA		zinc finger protein 45							83.0	82.0	83.0					19																	44418406		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418406C>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1182G>A	19.37:g.44418406C>T						RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.G394G	p.G394G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2272	-			394					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.1182G>A	CCDS12632.1																																																																																				0.512	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		16	99	0	0	0	1	0	16	99				
EP300	2033	broad.mit.edu	37	22	41574914	41574914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41574914C>G	ENST00000263253.7	+	31	8418	c.7199C>G	c.(7198-7200)tCa>tGa	p.S2400*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2400					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCGATAACTCAGACTTGAAT	0.448			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(7198-7200)tCa>tGa		E1A binding protein p300							51.0	52.0	52.0					22																	41574914		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574914C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.7199C>G	22.37:g.41574914C>G	ENSP00000263253:p.Ser2400*					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.S2400*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8418	+			2400					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.7199C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	53	20.656194	0.99933	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.65	4.62	0.57501	.	0.190634	0.25517	N	0.030134	.	.	.	.	.	.	0.40839	D	0.983653	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.5412	16.4798	0.84155	0.0:0.8686:0.1313:0.0	.	.	.	.	X	2400	.	ENSP00000263253:S2400X	S	+	2	0	EP300	39904860	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.346000	0.72999	1.353000	0.45828	0.655000	0.94253	TCA		0.448	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		21	59	0	0	0	1	0	21	59				
CCDC146	57639	broad.mit.edu	37	7	76871137	76871137	+	Missense_Mutation	SNP	G	G	C	rs151147207		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76871137G>C	ENST00000285871.4	+	4	496	c.369G>C	c.(367-369)atG>atC	p.M123I	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	123										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTCCAAAATGAGAGAACAAC	0.398																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(367-369)atG>atC		coiled-coil domain containing 146							107.0	107.0	107.0					7																	76871137		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76871137G>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.369G>C	7.37:g.76871137G>C	ENSP00000285871:p.Met123Ile					CCDC146_ENST00000431197.1_5'UTR	p.M123I	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			4	496	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	123					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.369G>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171907	0.38315	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	T;D	0.84223	2.37;-1.82	5.69	4.79	0.61399	.	0.287953	0.41097	D	0.000954	T	0.74898	0.3777	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.69577	-0.5108	10	0.46703	T	0.11	-14.574	9.9763	0.41786	0.0735:0.0:0.7824:0.1441	.	123	Q8IYE0	CC146_HUMAN	I	123	ENSP00000388649:M123I;ENSP00000285871:M123I	ENSP00000285871:M123I	M	+	3	0	AC007000.1	76709073	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.877000	0.56123	1.332000	0.45431	0.585000	0.79938	ATG		0.398	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		12	81	0	0	0	1	0	12	81				
CLCA2	9635	broad.mit.edu	37	1	86921187	86921187	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921187G>A	ENST00000370565.4	+	14	2971	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	937					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGACAAGAAAGAGAATGGAAC	0.328																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2809-2811)Gag>Aag		chloride channel accessory 2							48.0	52.0	51.0					1																	86921187		2188	4295	6483	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921187G>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2809G>A	1.37:g.86921187G>A	ENSP00000359596:p.Glu937Lys						p.E937K	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2971	+		Lung NSC(277;0.238)	937					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2809G>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904098	0.33628	.	.	ENSG00000137975	ENST00000370565	T	0.02863	4.13	5.62	3.7	0.42460	.	0.614271	0.15930	N	0.237738	T	0.00967	0.0032	L	0.38838	1.175	0.25668	N	0.985924	P	0.39282	0.666	B	0.37508	0.252	T	0.47289	-0.9129	10	0.13470	T	0.59	-3.7297	11.4017	0.49875	0.07:0.1252:0.8048:0.0	.	937	Q9UQC9	CLCA2_HUMAN	K	937	ENSP00000359596:E937K	ENSP00000359596:E937K	E	+	1	0	CLCA2	86693775	0.880000	0.30214	0.925000	0.36789	0.471000	0.32888	1.811000	0.38942	1.363000	0.46019	0.591000	0.81541	GAG		0.328	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		9	57	0	0	0	1	0	9	57				
SEC16B	89866	broad.mit.edu	37	1	177928058	177928058	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:177928058G>C	ENST00000308284.6	-	9	1140	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	SEC16B_ENST00000464631.2_Missense_Mutation_p.Q352E|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	351					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGCAGCTCTGAGCTGCTTTC	0.478																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1051-1053)Cag>Gag		SEC16 homolog B (S. cerevisiae)							66.0	66.0	66.0					1																	177928058		1913	4133	6046	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177928058G>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1051C>G	1.37:g.177928058G>C	ENSP00000308339:p.Gln351Glu					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Q352E|RP4-798P15.3_ENST00000528461.1_3'UTR	p.Q351E	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			9	1140	-			351					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1051C>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399924	0.42613	.	.	ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631	T;T	0.37235	1.21;1.21	5.08	4.14	0.48551	Sec16, central conserved domain (1);	0.230609	0.30338	N	0.009851	T	0.33411	0.0862	N	0.17800	0.525	0.23893	N	0.996547	D;D;B;D	0.58268	0.964;0.982;0.05;0.96	P;P;B;P	0.57283	0.634;0.817;0.089;0.747	T	0.11155	-1.0599	10	0.10111	T	0.7	-16.9242	12.2934	0.54831	0.1331:0.0:0.8669:0.0	.	352;352;351;48	E9PK14;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	E	351;66;352	ENSP00000308339:Q351E;ENSP00000431727:Q352E	ENSP00000239472:Q66E	Q	-	1	0	AL359075.1	176194681	0.852000	0.29690	0.983000	0.44433	0.947000	0.59692	1.348000	0.33987	2.517000	0.84864	0.655000	0.94253	CAG		0.478	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		8	28	0	0	0	1	0	8	28				
CNDP1	84735	broad.mit.edu	37	18	72226609	72226609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72226609C>G	ENST00000358821.3	+	3	433	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	CNDP1_ENST00000582365.1_Missense_Mutation_p.R26G|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000585136.1_3'UTR	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	69						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.R69S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCTGTGCCTCGCTTCAGACA	0.622																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.R69S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(76-78)Cgc>Ggc		carnosine dipeptidase 1 (metallopeptidase M20 family)							103.0	90.0	94.0					18																	72226609		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72226609C>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.205C>G	18.37:g.72226609C>G	ENSP00000351682:p.Arg69Gly					CNDP1_ENST00000358821.3_Missense_Mutation_p.R69G|CNDP1_ENST00000585136.1_3'UTR	p.R26G			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	142	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	69					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.76C>G	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000150656	ENST00000358821	T	0.08193	3.12	5.37	5.37	0.77165	.	0.466090	0.23328	N	0.049367	T	0.04182	0.0116	N	0.02539	-0.55	0.23210	N	0.998117	B	0.28783	0.222	B	0.20767	0.031	T	0.40175	-0.9577	10	0.59425	D	0.04	-15.7294	15.4009	0.74841	0.0:0.8604:0.1396:0.0	.	69	Q96KN2	CNDP1_HUMAN	G	69	ENSP00000351682:R69G	ENSP00000351682:R69G	R	+	1	0	CNDP1	70377589	0.000000	0.05858	0.168000	0.22838	0.044000	0.14063	0.621000	0.24418	2.516000	0.84829	0.643000	0.83706	CGC		0.622	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		22	86	0	0	0	1	0	22	86				
OR51V1	283111	broad.mit.edu	37	11	5221755	5221755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5221755C>T	ENST00000321255.1	-	1	175	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	59					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTCAGTCCATATCACATG	0.532																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(175-177)tGg>tAg		olfactory receptor, family 51, subfamily V, member 1							127.0	109.0	115.0					11																	5221755		2201	4298	6499	SO:0001587	stop_gained	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221755C>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.176G>A	11.37:g.5221755C>T	ENSP00000321729:p.Trp59*						p.W59*	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	175	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	59						Nonsense_Mutation	SNP	ENST00000321255.1	37	c.176G>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210660	0.58343	.	.	ENSG00000176742	ENST00000321255	.	.	.	5.48	5.48	0.80851	.	0.758004	0.10878	N	0.624178	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.0763	0.89428	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000321729:W59X	W	-	2	0	OR51V1	5178331	0.000000	0.05858	0.851000	0.33527	0.432000	0.31715	-0.261000	0.08694	2.851000	0.98039	0.650000	0.86243	TGG		0.532	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		19	106	0	0	0	1	0	19	106				
SLC6A5	9152	broad.mit.edu	37	11	20636262	20636262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:20636262C>G	ENST00000525748.1	+	6	1296	c.1023C>G	c.(1021-1023)atC>atG	p.I341M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	341					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAATACAGATCAAGAACTCGA	0.408																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1021-1023)atC>atG		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						165.0	151.0	156.0					11																	20636262		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636262C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1023C>G	11.37:g.20636262C>G	ENSP00000434364:p.Ile341Met						p.I341M	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			6	1296	+			341					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1023C>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246412	0.39697	.	.	ENSG00000165970	ENST00000525748	T	0.73258	-0.73	5.71	4.61	0.57282	.	1.202570	0.05751	N	0.603165	T	0.72882	0.3516	N	0.25245	0.725	0.52501	D	0.999951	P	0.44776	0.843	P	0.58210	0.835	T	0.62224	-0.6899	10	0.39692	T	0.17	.	9.619	0.39710	0.1803:0.7358:0.0:0.0839	.	341	Q9Y345	SC6A5_HUMAN	M	341	ENSP00000434364:I341M	ENSP00000434364:I341M	I	+	3	3	SLC6A5	20592838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.106000	0.31098	2.697000	0.92050	0.591000	0.81541	ATC		0.408	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		26	93	0	0	0	1	0	26	93				
EPHA2	1969	broad.mit.edu	37	1	16464591	16464591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464591G>A	ENST00000358432.5	-	5	1223	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATGTCCTCGCGGCCCCCGCTG	0.677																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1069-1071)Cgc>Tgc		EPH receptor A2	Dasatinib(DB01254)						34.0	32.0	33.0					1																	16464591		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464591G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1069C>T	1.37:g.16464591G>A	ENSP00000351209:p.Arg357Cys						p.R357C	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1223	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	357			Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1069C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718415	0.68844	.	.	ENSG00000142627	ENST00000358432	T	0.58797	0.31	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000074	T	0.80439	0.4623	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.84809	0.0789	10	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	357;357	B5A968;P29317	.;EPHA2_HUMAN	C	357	ENSP00000351209:R357C	ENSP00000351209:R357C	R	-	1	0	EPHA2	16337178	1.000000	0.71417	0.992000	0.48379	0.189000	0.23516	9.766000	0.98957	2.488000	0.83962	0.561000	0.74099	CGC		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		7	28	0	0	0	1	0	7	28				
SYNE1	23345	broad.mit.edu	37	6	152688445	152688445	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152688445C>G	ENST00000367255.5	-	62	10481	c.9880G>C	c.(9880-9882)Gac>Cac	p.D3294H	SYNE1_ENST00000265368.4_Missense_Mutation_p.D3294H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3333H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D3301H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3301H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3294					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCATCCAGTCTTGTAATTCT	0.468										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9880-9882)Gac>Cac		spectrin repeat containing, nuclear envelope 1							194.0	169.0	177.0					6																	152688445		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152688445C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9880G>C	6.37:g.152688445C>G	ENSP00000356224:p.Asp3294His	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.D3301H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3333H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3294H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3301H	p.D3294H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	62	10481	-		Ovarian(120;0.0955)	3294					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9880G>C	CCDS5236.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.1|22.1|22.1	4.242040|4.242040|4.242040	0.79912|0.79912|0.79912	.|.|.	.|.|.	ENSG00000131018|ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018|ENST00000469439	T;T;T;T;T|.|.	0.55588|.|.	1.28;0.52;1.28;0.51;0.62|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000002|.|.	T|T|T	0.67040|0.67040|0.67040	0.2851|0.2851|0.2851	L|L|L	0.53249|0.53249|0.53249	1.67|1.67|1.67	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.79108|.|.	0.981;0.977;0.981;0.992|.|.	T|T|T	0.59915|0.59915|0.59915	-0.7364|-0.7364|-0.7364	10|5|5	0.42905|.|.	T|.|.	0.14|.|.	.|.|.	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	3294;411;3294;3301|.|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.|.	SYNE1_HUMAN;.;.;.|.|.	H|N|T	3294;3301;3294;3301;3333|410|106	ENSP00000356224:D3294H;ENSP00000396024:D3301H;ENSP00000265368:D3294H;ENSP00000390975:D3301H;ENSP00000341887:D3333H|.|.	ENSP00000265368:D3294H|.|.	D|K|R	-|-|-	1|3|2	0|2|0	SYNE1|SYNE1|SYNE1	152730138|152730138|152730138	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	5.745000|5.745000|5.745000	0.68672|0.68672|0.68672	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|AAG|AGA		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	82	0	0	0	1	0	18	82				
B4GALT4	8702	broad.mit.edu	37	3	118945719	118945719	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:118945719C>T	ENST00000483209.1	-	4	1064	c.423G>A	c.(421-423)ctG>ctA	p.L141L	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000467604.1_Silent_p.L141L|B4GALT4_ENST00000359213.3_Silent_p.L141L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.L141L|B4GALT4-AS1_ENST00000470790.1_RNA			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GCAGATGTTCCAGCAGGTACA	0.587																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(421-423)ctG>ctA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						103.0	78.0	87.0					3																	118945719		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118945719C>T	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.423G>A	3.37:g.118945719C>T						B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.L141L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.L141L|B4GALT4_ENST00000393765.2_Silent_p.L141L	p.L141L			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	4	814	-			141					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.423G>A	CCDS2986.1																																																																																				0.587	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		3	30	0	0	0	1	0	3	30				
PRAMEF1	65121	broad.mit.edu	37	1	12855677	12855677	+	Silent	SNP	C	C	T	rs142654121		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:12855677C>T	ENST00000332296.7	+	4	1060	c.957C>T	c.(955-957)ctC>ctT	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAAGCCTCGGTTACCTAA	0.493																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(955-957)ctC>ctT		PRAME family member 1		C		3,4389		0,3,2193	56.0	62.0	60.0		957	1.6	0.0	1	dbSNP_134	60	0,8576		0,0,4288	no	coding-synonymous	PRAMEF1	NM_023013.2		0,3,6481	TT,TC,CC		0.0,0.0683,0.0231		319/475	12855677	3,12965	2196	4288	6484	SO:0001819	synonymous_variant	65121							g.chr1:12855677C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.957C>T	1.37:g.12855677C>T						PRAMEF1_ENST00000400814.3_Silent_p.L74L	p.L319L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1060	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	319					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.957C>T	CCDS148.1																																																																																				0.493	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		36	102	0	0	0	1	0	36	102				
ZNF71	58491	broad.mit.edu	37	19	57134092	57134092	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57134092G>C	ENST00000328070.6	+	3	1671	c.1437G>C	c.(1435-1437)acG>acC	p.T479T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCGCAACACGAACCTGACGC	0.642																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1435-1437)acG>acC		zinc finger protein 71							46.0	48.0	47.0					19																	57134092		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57134092G>C	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1437G>C	19.37:g.57134092G>C							p.T479T	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1671	+			479					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1437G>C	CCDS12947.1																																																																																				0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		21	58	0	0	0	1	0	21	58				
C6orf118	168090	broad.mit.edu	37	6	165715188	165715188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:165715188C>G	ENST00000230301.8	-	2	643	c.623G>C	c.(622-624)gGa>gCa	p.G208A	C6orf118_ENST00000543069.1_Missense_Mutation_p.G104A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	208										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTGGTGGCTCCGGCCAGGTA	0.602																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(310-312)gGa>gCa		chromosome 6 open reading frame 118							61.0	61.0	61.0					6																	165715188		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715188C>G		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.623G>C	6.37:g.165715188C>G	ENSP00000230301:p.Gly208Ala					C6orf118_ENST00000230301.8_Missense_Mutation_p.G208A	p.G104A			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	892	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	208					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.311G>C	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	6.137	0.393495	0.11638	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13420	2.59;2.59	4.92	3.11	0.35812	.	0.269389	0.31648	N	0.007290	T	0.07683	0.0193	L	0.53249	1.67	0.09310	N	1	P	0.41450	0.75	B	0.43274	0.414	T	0.11792	-1.0573	10	0.34782	T	0.22	.	14.1792	0.65562	0.0:0.7141:0.2859:0.0	.	208	Q5T5N4	CF118_HUMAN	A	208;104	ENSP00000230301:G208A;ENSP00000439288:G104A	ENSP00000230301:G208A	G	-	2	0	C6orf118	165635178	0.530000	0.26330	0.002000	0.10522	0.002000	0.02628	2.510000	0.45468	0.469000	0.27268	-0.226000	0.12346	GGA		0.602	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		15	73	0	0	0	1	0	15	73				
URI1	8725	broad.mit.edu	37	19	30498456	30498456	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:30498456G>A	ENST00000542441.2	+	7	894	c.597G>A	c.(595-597)gtG>gtA	p.V199V	URI1_ENST00000312051.6_Silent_p.V159V|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000392271.1_Silent_p.V123V|URI1_ENST00000360605.4_Silent_p.V181V			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	199					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CAAATGATGTGAAATCCAAGG	0.373																																						ENST00000392271.1																			0											c.(367-369)gtG>gtA		URI1, prefoldin-like chaperone							91.0	90.0	90.0					19																	30498456		2203	4299	6502	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30498456G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.597G>A	19.37:g.30498456G>A						URI1_ENST00000360605.4_Silent_p.V181V|URI1_ENST00000542441.2_Silent_p.V199V|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000312051.6_Silent_p.V159V	p.V123V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			7	894	+			199					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.369G>A	CCDS12420.1																																																																																				0.373	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		8	36	0	0	0	1	0	8	36				
IGHM	3507	broad.mit.edu	37	14	106321783	106321783	+	RNA	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:106321783C>A	ENST00000390559.2	-	0	450				AL122127.1_ENST00000581354.1_RNA|AL122127.2_ENST00000581918.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|AL122127.4_ENST00000581720.1_RNA|AL122127.5_ENST00000582202.1_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)										TGCTTCCCCTCGCGCAGCCAG	0.652																																						ENST00000390559.2																			0																				48.0	50.0	49.0					14																	106321783		2144	4233	6377			3507							g.chr14:106321783C>A	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.106321783C>A														0	450	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.652	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		13	37	1	0	2.32078e-09	1	2.4191e-09	13	37				
HNRNPUL1	11100	broad.mit.edu	37	19	41770636	41770636	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41770636G>A	ENST00000392006.3	+	1	401	c.228G>A	c.(226-228)gcG>gcA	p.A76A	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Silent_p.A76A|HNRNPUL1_ENST00000593587.1_5'Flank|HNRNPUL1_ENST00000263367.3_5'Flank|HNRNPUL1_ENST00000595018.1_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	76	Necessary for interaction with HRMT1L1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGGACCGCGCAGCCACCGC	0.771																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(226-228)gcG>gcA		heterogeneous nuclear ribonucleoprotein U-like 1							3.0	4.0	4.0					19																	41770636		1566	3397	4963	SO:0001819	synonymous_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41770636G>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.228G>A	19.37:g.41770636G>A						HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Silent_p.A76A	p.A76A	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			1	401	+			76			Necessary for interaction with HRMT1L1.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.228G>A	CCDS12576.1																																																																																				0.771	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		5	15	0	0	0	1	0	5	15				
KRT9	3857	broad.mit.edu	37	17	39726123	39726123	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39726123C>T	ENST00000246662.4	-	3	935	c.870G>A	c.(868-870)aaG>aaA	p.K290K	KRT9_ENST00000588431.1_Silent_p.K57K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	290	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTTATGATTCTTCTTGAGGG	0.542																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(868-870)aaG>aaA		keratin 9							100.0	102.0	101.0					17																	39726123		2200	4295	6495	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39726123C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.870G>A	17.37:g.39726123C>T						KRT9_ENST00000588431.1_Silent_p.K57K	p.K290K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			3	935	-		Breast(137;0.000307)	290			Coil 1B.|Rod.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.870G>A	CCDS32654.1																																																																																				0.542	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		24	127	0	0	0	1	0	24	127				
ITGA11	22801	broad.mit.edu	37	15	68600009	68600009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:68600009G>A	ENST00000315757.7	-	27	3286	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	ITGA11_ENST00000423218.2_Missense_Mutation_p.S1068F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1067					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCAGTTGATGGAGACGACATC	0.527																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(3202-3204)tCc>tTc		integrin, alpha 11	Tirofiban(DB00775)						50.0	48.0	48.0					15																	68600009		1938	4135	6073	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68600009G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3200C>T	15.37:g.68600009G>A	ENSP00000327290:p.Ser1067Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.S1067F	p.S1068F			Q9UKX5	ITA11_HUMAN			27	3298	-			1067					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.3203C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836212	0.32421	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.46819	0.86;0.86	5.03	5.03	0.67393	.	0.050232	0.85682	D	0.000000	T	0.47525	0.1450	L	0.54323	1.7	0.45704	D	0.998619	P;P	0.40360	0.457;0.714	B;B	0.39379	0.258;0.298	T	0.53301	-0.8458	10	0.56958	D	0.05	.	16.9398	0.86215	0.0:0.0:1.0:0.0	.	1067;1067	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	1067;1068;702	ENSP00000327290:S1067F;ENSP00000403392:S1068F	ENSP00000327290:S1067F	S	-	2	0	ITGA11	66387063	1.000000	0.71417	0.995000	0.50966	0.279000	0.26890	6.089000	0.71384	2.338000	0.79540	0.484000	0.47621	TCC		0.527	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		3	25	0	0	0	1	0	3	25				
ZBBX	79740	broad.mit.edu	37	3	167045805	167045805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:167045805G>A	ENST00000392766.2	-	11	1127	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q234*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q263*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	263						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AACACTTCCTGAAAGGACTGT	0.368																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(787-789)Cag>Tag		zinc finger, B-box domain containing							218.0	200.0	206.0					3																	167045805		1878	4113	5991	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167045805G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.787C>T	3.37:g.167045805G>A	ENSP00000376519:p.Gln263*					ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q234*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q263*	p.Q263*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			11	1127	-			263					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.787C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731119	0.89390	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.57	4.7	0.59300	.	0.290984	0.17993	U	0.155155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.0202	10.3843	0.44129	0.0902:0.0:0.9098:0.0	.	.	.	.	X	263;263;263;263;234	.	ENSP00000305065:Q263X	Q	-	1	0	ZBBX	168528499	1.000000	0.71417	0.630000	0.29268	0.031000	0.12232	5.449000	0.66619	1.356000	0.45884	-0.259000	0.10710	CAG		0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		36	124	0	0	0	1	0	36	124				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976945	29976945	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29976945C>T	ENST00000376797.3	-	0	734				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GAGCTACTCTCAGGCTGCAAG	0.547																																						ENST00000376797.3																			0																																																			80862							g.chr6:29976945C>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976945C>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	734	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.547	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		13	91	0	0	0	1	0	13	91				
HSDL2	84263	broad.mit.edu	37	9	115171278	115171278	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115171278G>A	ENST00000398805.3	+	4	599	c.372G>A	c.(370-372)gtG>gtA	p.V124V	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Silent_p.V4V|HSDL2_ENST00000398803.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	124						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TGATGAACGTGAACACCAGAG	0.418																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(370-372)gtG>gtA		hydroxysteroid dehydrogenase like 2							148.0	134.0	138.0					9																	115171278		1941	4149	6090	SO:0001819	synonymous_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115171278G>A	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.372G>A	9.37:g.115171278G>A						HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_Silent_p.V4V	p.V124V	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			4	599	+			124					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Silent	SNP	ENST00000398805.3	37	c.372G>A	CCDS43864.1																																																																																				0.418	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		28	59	0	0	0	1	0	28	59				
RASL10A	10633	broad.mit.edu	37	22	29708037	29708037	+	IGR	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29708037G>C	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000471961.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407647.2_Missense_Mutation_p.L532F|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_Missense_Mutation_p.L532F	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCGGGCCCTTGAGGCTGTTGC	0.667																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1594-1596)ttG>ttC		growth arrest-specific 2 like 1							72.0	91.0	85.0					22																	29708037		2031	4171	6202	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708037G>C	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708037G>C						GAS2L1_ENST00000407854.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000407647.2_Missense_Mutation_p.L532F|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000360113.2_3'UTR	p.L532F			Q99501	GA2L1_HUMAN			5	2644	+			0					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1596G>C	CCDS13854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.500|5.500	0.277204|0.277204	0.10403|0.10403	.|.	.|.	ENSG00000185340|ENSG00000185340	ENST00000333679|ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854	.|T;T;T;T	.|0.52057	.|0.68;0.68;0.68;0.68	3.49|3.49	-0.0489|-0.0489	0.13837|0.13837	.|.	0.349521|.	0.21995|.	N|.	0.066090|.	T|T	0.21674|0.21674	0.0522|0.0522	N|N	0.08118|0.08118	0|0	0.47214|0.47214	D|D	0.999358|0.999358	B;B|B	0.06786|0.09022	0.001;0.001|0.002	B;B|B	0.04013|0.04013	0.001;0.001|0.001	T|T	0.04930|0.04930	-1.0917|-1.0917	9|9	0.34782|0.25751	T|T	0.22|0.34	-2.5484|-2.5484	5.3359|5.3359	0.15957|0.15957	0.2121:0.1642:0.6237:0.0|0.2121:0.1642:0.6237:0.0	.|.	533;533|532	A0A5E8;Q99501|E7EQM6	.;GA2L1_HUMAN|.	Q|F	532|532	.|ENSP00000385554:L532F;ENSP00000385358:L532F;ENSP00000450152:L532F;ENSP00000385023:L532F	ENSP00000332834:E532Q|ENSP00000385358:L532F	E|L	+|+	1|3	0|2	GAS2L1|GAS2L1	28038037|28038037	0.001000|0.001000	0.12720|0.12720	0.715000|0.715000	0.30552|0.30552	0.448000|0.448000	0.32197|0.32197	0.394000|0.394000	0.20834|0.20834	-0.119000|-0.119000	0.11830|0.11830	0.491000|0.491000	0.48974|0.48974	GAG|TTG		0.667	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			57	270	0	0	0	1	0	57	270				
YTHDF1	54915	broad.mit.edu	37	20	61828074	61828074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:61828074G>C	ENST00000370339.3	-	5	2007	c.1666C>G	c.(1666-1668)Cga>Gga	p.R556G	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R506G|YTHDF1_ENST00000370334.4_Missense_Mutation_p.R49G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	556							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTTTGTTTCGACTCTGCCGT	0.443																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1666-1668)Cga>Gga		YTH domain family, member 1							145.0	122.0	130.0					20																	61828074		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61828074G>C	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1666C>G	20.37:g.61828074G>C	ENSP00000359364:p.Arg556Gly					YTHDF1_ENST00000370334.4_Missense_Mutation_p.R49G|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R506G	p.R556G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			5	2007	-			556					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1666C>G	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726574	0.30593	.	.	ENSG00000149658	ENST00000370339;ENST00000370334;ENST00000370333	T;T	0.26957	1.7;1.71	5.24	3.28	0.37604	.	.	.	.	.	T	0.42223	0.1193	L	0.56769	1.78	0.44711	D	0.9977	D	0.63880	0.993	D	0.74023	0.982	T	0.20538	-1.0272	9	0.49607	T	0.09	.	9.1288	0.36833	0.0748:0.0:0.7821:0.1432	.	556	Q9BYJ9	YTHD1_HUMAN	G	556;49;506	ENSP00000359364:R556G;ENSP00000359358:R506G	ENSP00000359358:R506G	R	-	1	2	YTHDF1	61298519	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	4.299000	0.59073	1.221000	0.43506	-0.226000	0.12346	CGA		0.443	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		12	64	0	0	0	1	0	12	64				
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						ENST00000392452.2																			2	Substitution - Missense(2)	p.Q309E(2)	lung(2)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(931-933)Cag>Gag		Mab-21 domain containing 2							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1251	-			311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		13	39	0	0	0	1	0	13	39				
WDR20	91833	broad.mit.edu	37	14	102675970	102675970	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:102675970C>G	ENST00000342702.3	+	3	1494	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	WDR20_ENST00000556511.2_Missense_Mutation_p.S427C|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.S427C|WDR20_ENST00000335263.5_Missense_Mutation_p.S488C|WDR20_ENST00000545563.1_Missense_Mutation_p.S315C|WDR20_ENST00000424963.2_Missense_Mutation_p.S364C|WDR20_ENST00000499851.2_Missense_Mutation_p.S231C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.S519C	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	488										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGACACATTTCTAGCAAGAGC	0.478											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1462-1464)tCt>tGt		WD repeat domain 20							107.0	98.0	101.0					14																	102675970		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675970C>G	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1463C>G	14.37:g.102675970C>G	ENSP00000341037:p.Ser488Cys		OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1368	WDR20_ENST00000556807.1_Missense_Mutation_p.S427C|WDR20_ENST00000556511.2_Missense_Mutation_p.S427C|WDR20_ENST00000545563.1_Missense_Mutation_p.S315C|WDR20_ENST00000499851.2_Missense_Mutation_p.S231C|WDR20_ENST00000454394.2_Missense_Mutation_p.S519C|WDR20_ENST00000424963.2_Missense_Mutation_p.S364C|WDR20_ENST00000342702.3_Missense_Mutation_p.S488C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR	p.S488C	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	1543	+			488					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.1463C>G	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.24|13.24	2.177782|2.177782	0.38413|0.38413	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|D;D;D;D;D;D;D	.|0.85088	.|-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.154387	.|0.64402	.|D	.|0.000010	D|D	0.90297|0.90297	0.6965|0.6965	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.64830	.|0.994;0.981;0.992;0.989;0.964;0.979;0.967	.|P;P;P;P;P;P;P	.|0.59761	.|0.806;0.599;0.863;0.757;0.839;0.707;0.642	D|D	0.89747|0.89747	0.3937|0.3937	5|10	.|0.54805	.|T	.|0.06	.|.	20.1379|20.1379	0.98040|0.98040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|519;500;427;488;427;364;488	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	L|C	418|488;427;364;488;427;231;519;418;315	.|ENSP00000335434:S488C;ENSP00000395793:S364C;ENSP00000341037:S488C;ENSP00000450636:S427C;ENSP00000443641:S231C;ENSP00000406084:S519C;ENSP00000437927:S315C	.|ENSP00000299135:S427C	F|S	+|+	3|2	2|0	WDR20|WDR20	101745723|101745723	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.999000|0.999000	0.98932|0.98932	4.858000|4.858000	0.62947|0.62947	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.478	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		23	95	0	0	0	1	0	23	95				
TACC2	10579	broad.mit.edu	37	10	123842303	123842303	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123842303C>T	ENST00000369005.1	+	4	628	c.288C>T	c.(286-288)ccC>ccT	p.P96P	TACC2_ENST00000334433.3_Silent_p.P96P|TACC2_ENST00000453444.2_Silent_p.P96P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P96P|TACC2_ENST00000515603.1_Silent_p.P96P|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	96					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTTGCTGCCCAGCCCACCAC	0.642																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(286-288)ccC>ccT		transforming, acidic coiled-coil containing protein 2							73.0	74.0	74.0					10																	123842303		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842303C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.288C>T	10.37:g.123842303C>T						TACC2_ENST00000515603.1_Silent_p.P96P|TACC2_ENST00000334433.3_Silent_p.P96P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.P96P|TACC2_ENST00000453444.2_Silent_p.P96P	p.P96P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	628	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	96					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.288C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	4.470	0.087049	0.08583	.	.	ENSG00000138162	ENST00000491540	.	.	.	4.81	-1.45	0.08828	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3241	9.2847	0.37749	0.0:0.3759:0.0:0.6241	.	.	.	.	X	110	.	.	Q	+	1	0	TACC2	123832293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.261000	0.08694	-0.373000	0.07979	-1.071000	0.02255	CAG		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			29	85	0	0	0	1	0	29	85				
SIAH1	6477	broad.mit.edu	37	16	48396174	48396174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48396174G>A	ENST00000380006.2	-	1	1619	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	SIAH1_ENST00000356721.3_Nonsense_Mutation_p.Q87*|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.Q56*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	56					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TGGCCACTCTGACATTGAAGA	0.507																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(166-168)Cag>Tag		siah E3 ubiquitin protein ligase 1							101.0	92.0	95.0					16																	48396174		2200	4300	6500	SO:0001587	stop_gained	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396174G>A	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.166C>T	16.37:g.48396174G>A	ENSP00000369343:p.Gln56*					SIAH1_ENST00000394725.2_Nonsense_Mutation_p.Q56*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.Q87*	p.Q56*			Q8IUQ4	SIAH1_HUMAN			1	1619	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	56					A0FKF3|O43269|Q49A58|Q92880	Nonsense_Mutation	SNP	ENST00000380006.2	37	c.166C>T	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	48	14.043693	0.99776	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-10.0553	19.3841	0.94550	0.0:0.0:1.0:0.0	.	.	.	.	X	87;56;72	.	ENSP00000349156:Q87X	Q	-	1	0	SIAH1	46953675	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	CAG		0.507	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			8	61	0	0	0	1	0	8	61				
CACNA1G	8913	broad.mit.edu	37	17	48696166	48696166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48696166G>A	ENST00000359106.5	+	33	5578	c.5578G>A	c.(5578-5580)Gag>Aag	p.E1860K	CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1860K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1835K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1815K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1826K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1837K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1819K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1860K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1860K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1837K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1867K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1808K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1815K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1853K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1842K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1842K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1826K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1803K|CACNA1G_ENST00000352832.5_Missense_Mutation_p.E1826K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1849K	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1860					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGCAACAAGGAGGCCAAGGA	0.622																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5476-5478)Gag>Aag		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						48.0	55.0	53.0					17																	48696166		2155	4246	6401	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696166G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5578G>A	17.37:g.48696166G>A	ENSP00000352011:p.Glu1860Lys					CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1860K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1835K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1815K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1867K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1815K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1826K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1803K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1808K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1842K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1819K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1842K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1860K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1853K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1837K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1860K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1837K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1826K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1860K	p.E1826K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		31	5848	+	Breast(11;6.7e-17)		1860					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5476G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.951256	0.73787	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;T;D;D;D;D;D;D;D;T;T;T;D;T;D;D;T;D;D;T;D;T;D;D	0.97404	-4.32;-4.31;0.5;-4.31;-4.28;-4.32;-4.37;-4.32;-4.36;-4.34;0.5;0.5;0.5;-4.28;0.5;-4.32;-4.28;0.5;-4.34;-4.3;0.5;-4.33;0.5;-4.31;-4.31	4.9	3.86	0.44501	.	0.583686	0.12795	U	0.438577	D	0.97654	0.9231	L	0.52011	1.625	0.58432	D	0.99999	B;P;B;D;D;B;B;B;B;P;P;P;P;D;B;D;B;D;D;B;B;D;P;D;P	0.89917	0.03;0.507;0.267;0.979;0.998;0.17;0.17;0.355;0.17;0.659;0.701;0.865;0.507;0.998;0.17;1.0;0.166;0.997;0.998;0.355;0.115;0.97;0.502;0.972;0.58	B;B;B;D;D;B;B;B;B;P;B;P;B;D;B;D;B;D;D;B;B;P;B;P;B	0.81914	0.021;0.362;0.16;0.983;0.995;0.063;0.063;0.289;0.063;0.562;0.16;0.482;0.362;0.991;0.063;0.988;0.16;0.974;0.995;0.289;0.03;0.862;0.235;0.867;0.196	D	0.97180	0.9850	10	0.72032	D	0.01	.	14.6634	0.68891	0.0:0.1459:0.8541:0.0	.	1803;1815;1808;1842;1815;1835;1867;1826;1853;1849;1860;1837;1849;1849;1842;1849;1860;1837;1860;1826;1819;1826;1837;1860;1826	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	K	1837;1826;1826;1819;1837;1849;1815;1803;1808;1826;1860;1849;1815;1853;1826;1860;1835;1849;1867;1826;1860;1842;1842;1860;1849	ENSP00000353990:E1837K;ENSP00000339302:E1826K;ENSP00000347078:E1826K;ENSP00000409759:E1819K;ENSP00000425522:E1837K;ENSP00000426261:E1849K;ENSP00000425451:E1815K;ENSP00000422407:E1803K;ENSP00000426814:E1808K;ENSP00000427238:E1826K;ENSP00000423112:E1860K;ENSP00000420918:E1849K;ENSP00000426172:E1815K;ENSP00000423045:E1853K;ENSP00000427173:E1826K;ENSP00000426098:E1860K;ENSP00000425698:E1835K;ENSP00000426232:E1849K;ENSP00000423317:E1867K;ENSP00000350979:E1826K;ENSP00000352011:E1860K;ENSP00000414388:E1842K;ENSP00000423155:E1842K;ENSP00000422268:E1860K;ENSP00000421518:E1849K	ENSP00000339302:E1826K	E	+	1	0	CACNA1G	46051165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.286000	0.76751	0.552000	0.68991	GAG		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		11	52	0	0	0	1	0	11	52				
ABI3BP	25890	broad.mit.edu	37	3	100570746	100570746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:100570746C>T	ENST00000284322.5	-	13	1307	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E449K|ABI3BP_ENST00000471714.1_Missense_Mutation_p.E449K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	400					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1345-1347)Gag>Aag		ABI family, member 3 (NESH) binding protein							88.0	89.0	89.0					3																	100570746		1824	4075	5899	SO:0001583	missense	25890					extracellular space		g.chr3:100570746C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1198G>A	3.37:g.100570746C>T	ENSP00000284322:p.Glu400Lys					ABI3BP_ENST00000495063.1_Missense_Mutation_p.E449K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E400K	p.E449K			Q7Z7G0	TARSH_HUMAN			15	1454	-			412			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1345G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.74|11.74	1.728730|1.728730	0.30593|0.30593	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000533855	T;T;T|.	0.55760|.	0.5;0.5;0.5|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.316966|.	0.28349|.	N|.	0.015676|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;B|.	0.58268|.	0.982;0.321|.	P;B|.	0.55391|.	0.775;0.073|.	T|T	0.60125|0.60125	-0.7324|-0.7324	10|5	0.25751|.	T|.	0.34|.	-7.9611|-7.9611	10.144|10.144	0.42751|0.42751	0.0:0.8992:0.0:0.1008|0.0:0.8992:0.0:0.1008	.|.	449;400|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	K|I	449;400;449|77	ENSP00000420524:E449K;ENSP00000284322:E400K;ENSP00000433993:E449K|.	ENSP00000284322:E400K|.	E|M	-|-	1|3	0|0	ABI3BP|ABI3BP	102053436|102053436	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.035000|0.035000	0.12851|0.12851	2.893000|2.893000	0.48633|0.48633	2.570000|2.570000	0.86706|0.86706	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.348	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	7	0	0	0	1	0	3	7				
UNC45A	55898	broad.mit.edu	37	15	91479549	91479549	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:91479549C>G	ENST00000418476.2	+	4	325	c.285C>G	c.(283-285)ctC>ctG	p.L95L	UNC45A_ENST00000394275.2_Silent_p.L80L|AC068831.3_ENST00000438890.1_RNA|UNC45A_ENST00000553671.2_3'UTR|AC068831.3_ENST00000448987.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	95					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCAAAGCACTCTACCGGCGGA	0.572																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(238-240)ctC>ctG		unc-45 homolog A (C. elegans)							65.0	68.0	67.0					15																	91479549		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91479549C>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.285C>G	15.37:g.91479549C>G						UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Silent_p.L95L	p.L80L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		7	1075	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		95					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.240C>G	CCDS10367.1																																																																																				0.572	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		22	94	0	0	0	1	0	22	94				
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(208-210)Gag>Aag		pre-B-cell leukemia homeobox 2							50.0	48.0	49.0					6																	32157485		1511	2709	4220	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157485C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.208G>A	6.37:g.32157485C>T	ENSP00000364190:p.Glu70Lys						p.E70K	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	478	-			70					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.208G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449408	0.63178	.	.	ENSG00000204304	ENST00000375050	T	0.39406	1.08	3.97	3.08	0.35506	PBX (1);	0.242939	0.26414	N	0.024509	T	0.33760	0.0874	M	0.85859	2.78	0.53688	D	0.999979	P;P	0.49307	0.53;0.922	B;B	0.41466	0.086;0.358	T	0.42361	-0.9456	10	0.72032	D	0.01	-11.9812	10.5476	0.45068	0.1948:0.8052:0.0:0.0	.	70;70	Q7KZE5;P40425	.;PBX2_HUMAN	K	70	ENSP00000364190:E70K	ENSP00000364190:E70K	E	-	1	0	PBX2	32265463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.353000	0.79414	0.844000	0.35094	-0.324000	0.08512	GAG		0.647	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			13	39	0	0	0	1	0	13	39				
GALNT11	63917	broad.mit.edu	37	7	151805335	151805335	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:151805335G>C	ENST00000434507.1	+	8	1362	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	GALNT11_ENST00000430044.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000452146.2_Missense_Mutation_p.E228Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000422997.2_3'UTR			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	309					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCCCCTTTCTGAGCTAGGACG	0.522																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(925-927)Gag>Cag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							88.0	92.0	91.0					7																	151805335		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151805335G>C	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.925G>C	7.37:g.151805335G>C	ENSP00000416787:p.Glu309Gln					GALNT11_ENST00000430044.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000452146.2_Missense_Mutation_p.E228Q|GALNT11_ENST00000422997.2_3'UTR	p.E309Q			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	8	1362	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	309					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.925G>C	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818874	0.50633	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.28	4.39	0.52855	.	0.052022	0.85682	D	0.000000	T	0.56949	0.2020	L	0.47078	1.49	0.80722	D	1	B;B;B	0.32409	0.072;0.37;0.136	B;B;B	0.40477	0.043;0.33;0.141	T	0.61133	-0.7124	10	0.54805	T	0.06	.	14.2688	0.66138	0.0732:0.0:0.9268:0.0	.	228;309;309	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	Q	309;228;309;309;309	ENSP00000395122:E309Q;ENSP00000393399:E228Q;ENSP00000416787:E309Q;ENSP00000315835:E309Q	ENSP00000315835:E309Q	E	+	1	0	GALNT11	151436268	1.000000	0.71417	0.578000	0.28575	0.887000	0.51463	6.647000	0.74354	2.445000	0.82738	0.650000	0.86243	GAG		0.522	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		21	97	0	0	0	1	0	21	97				
COQ10B	80219	broad.mit.edu	37	2	198318314	198318314	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198318314G>A	ENST00000263960.2	+	1	168	c.30G>A	c.(28-30)ttG>ttA	p.L10L	COQ10B_ENST00000409398.1_Silent_p.L10L|COQ10B_ENST00000545340.1_5'Flank|COQ10B_ENST00000409010.1_5'Flank	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	10						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATACGGCCTTGAGAAGGGTAG	0.682																																						ENST00000263960.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(28-30)ttG>ttA		coenzyme Q10 homolog B (S. cerevisiae)							41.0	50.0	47.0					2																	198318314		2203	4300	6503	SO:0001819	synonymous_variant	80219					mitochondrial inner membrane		g.chr2:198318314G>A	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.30G>A	2.37:g.198318314G>A						COQ10B_ENST00000409398.1_Silent_p.L10L	p.L10L	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		1	168	+			10					B7Z1Y4	Silent	SNP	ENST00000263960.2	37	c.30G>A	CCDS2319.1																																																																																				0.682	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		10	82	0	0	0	1	0	10	82				
AOC2	314	broad.mit.edu	37	17	40997568	40997568	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:40997568C>G	ENST00000253799.3	+	1	952	c.925C>G	c.(925-927)Cag>Gag	p.Q309E	AOC2_ENST00000452774.2_Missense_Mutation_p.Q309E	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	309					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCCCTCTTCAGTTCTCGCC	0.562																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(925-927)Cag>Gag		amine oxidase, copper containing 2 (retina-specific)							90.0	91.0	91.0					17																	40997568		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997568C>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.925C>G	17.37:g.40997568C>G	ENSP00000253799:p.Gln309Glu					AOC2_ENST00000452774.2_Missense_Mutation_p.Q309E	p.Q309E	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	952	+		Breast(137;0.000143)	309					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.925C>G	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651731	0.29336	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03689	3.84;3.84	5.69	4.7	0.59300	Copper amine oxidase, C-terminal (3);	0.678240	0.15147	N	0.277939	T	0.08935	0.0221	M	0.84433	2.695	0.54753	D	0.99998	B;B	0.10296	0.003;0.002	B;B	0.27796	0.083;0.025	T	0.37361	-0.9709	10	0.02654	T	1	-17.3474	16.5393	0.84381	0.0:0.869:0.131:0.0	.	309;309	O75106;O75106-2	AOC2_HUMAN;.	E	309	ENSP00000253799:Q309E;ENSP00000406134:Q309E	ENSP00000253799:Q309E	Q	+	1	0	AOC2	38251094	0.978000	0.34361	0.233000	0.24025	0.853000	0.48598	2.571000	0.45990	1.379000	0.46325	0.511000	0.50034	CAG		0.562	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		21	65	0	0	0	1	0	21	65				
PCDHGA2	56113	broad.mit.edu	37	5	140719228	140719228	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140719228G>A	ENST00000394576.2	+	1	690	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	230	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCTGCGTGAAGGTCCTGG	0.592																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(688-690)gtG>gtA									78.0	73.0	75.0					5																	140719228		2203	4300	6503	SO:0001819	synonymous_variant	56113							g.chr5:140719228G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.690G>A	5.37:g.140719228G>A						PCDHGA1_ENST00000517417.1_Intron	p.V230V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	690	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.690G>A	CCDS47289.1																																																																																				0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	100	0	0	0	1	0	4	100				
APOB	338	broad.mit.edu	37	2	21231384	21231384	+	Missense_Mutation	SNP	C	C	T	rs373774326		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:21231384C>T	ENST00000233242.1	-	26	8483	c.8356G>A	c.(8356-8358)Gaa>Aaa	p.E2786K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2786					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCTGCTTCGTTTGCTGAG	0.403																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8356-8358)Gaa>Aaa		apolipoprotein B	Atorvastatin(DB01076)	C	LYS/GLU	0,4406		0,0,2203	117.0	118.0	117.0		8356	-0.4	0.0	2		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	APOB	NM_000384.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2786/4564	21231384	1,13005	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231384C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8356G>A	2.37:g.21231384C>T	ENSP00000233242:p.Glu2786Lys						p.E2786K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8483	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2786					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8356G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.398410	0.00198	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00664	5.92	5.37	-0.361	0.12564	.	0.711498	0.12748	N	0.442475	T	0.00241	0.0007	N	0.00289	-1.7	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.42015	-0.9476	10	0.02654	T	1	.	6.245	0.20811	0.0:0.1397:0.2661:0.5942	.	2786	P04114	APOB_HUMAN	K	2786	ENSP00000233242:E2786K	ENSP00000233242:E2786K	E	-	1	0	APOB	21084889	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	0.860000	0.27871	-0.235000	0.09767	-0.459000	0.05422	GAA		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			22	112	0	0	0	1	0	22	112				
CLCA2	9635	broad.mit.edu	37	1	86919096	86919096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86919096G>C	ENST00000370565.4	+	13	2362	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	734					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGGCAGAAATGAGGAGGAGCG	0.458																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2200-2202)Gag>Cag		chloride channel accessory 2							65.0	69.0	68.0					1																	86919096		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919096G>C		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2200G>C	1.37:g.86919096G>C	ENSP00000359596:p.Glu734Gln					CLCA2_ENST00000498802.1_3'UTR	p.E734Q	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2362	+		Lung NSC(277;0.238)	734					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2200G>C	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399926	0.42613	.	.	ENSG00000137975	ENST00000370565	T	0.02890	4.12	5.72	5.72	0.89469	.	0.759991	0.12261	N	0.484725	T	0.01592	0.0051	L	0.47016	1.485	0.09310	N	1	P	0.38335	0.627	B	0.37650	0.255	T	0.51601	-0.8685	10	0.17832	T	0.49	-7.9522	14.507	0.67761	0.0722:0.0:0.9278:0.0	.	734	Q9UQC9	CLCA2_HUMAN	Q	734	ENSP00000359596:E734Q	ENSP00000359596:E734Q	E	+	1	0	CLCA2	86691684	0.329000	0.24696	0.115000	0.21578	0.854000	0.48673	2.240000	0.43088	2.866000	0.98385	0.650000	0.86243	GAG		0.458	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		10	70	0	0	0	1	0	10	70				
VRTN	55237	broad.mit.edu	37	14	74824428	74824428	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:74824428C>T	ENST00000256362.4	+	2	1183	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	314					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCCCGCTTCTCCGCCAAGC	0.637																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(940-942)ttC>ttT		vertebrae development associated							45.0	49.0	48.0					14																	74824428		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824428C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.942C>T	14.37:g.74824428C>T							p.F314F	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1183	+			314					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.942C>T	CCDS9830.1																																																																																				0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		14	126	0	0	0	1	0	14	126				
ZNF765	91661	broad.mit.edu	37	19	53912244	53912244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:53912244C>T	ENST00000396408.3	+	4	1553	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGCCGGACGTCATCCCTTACA	0.378																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1435-1437)tCa>tTa		zinc finger protein 765							96.0	102.0	100.0					19																	53912244		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912244C>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1436C>T	19.37:g.53912244C>T	ENSP00000379689:p.Ser479Leu					ZNF765_ENST00000594030.1_Intron	p.S479L	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1553	+			479					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1436C>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	9.321	1.058049	0.19987	.	.	ENSG00000196417	ENST00000396408	T	0.01705	4.68	1.38	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	M	0.67953	2.075	0.09310	N	1	B	0.21309	0.054	B	0.25614	0.062	T	0.40664	-0.9551	8	.	.	.	.	4.756	0.13085	0.3639:0.6361:0.0:0.0	.	479	Q7L2R6	ZN765_HUMAN	L	479	ENSP00000379689:S479L	.	S	+	2	0	ZNF765	58604056	0.000000	0.05858	0.002000	0.10522	0.086000	0.17979	-0.280000	0.08468	0.719000	0.32188	0.176000	0.17051	TCA		0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		18	131	0	0	0	1	0	18	131				
ZNF384	171017	broad.mit.edu	37	12	6787533	6787533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:6787533G>A	ENST00000396801.3	-	6	653	c.446C>T	c.(445-447)tCa>tTa	p.S149L	ZNF384_ENST00000319770.3_Missense_Mutation_p.S133L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S149L|ZNF384_ENST00000396795.1_Missense_Mutation_p.S149L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S149L|ZNF384_ENST00000355772.4_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	149					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGAAGAGCTGAGACAATCAT	0.577			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(445-447)tCa>tTa		zinc finger protein 384							45.0	43.0	43.0					12																	6787533		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787533G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.446C>T	12.37:g.6787533G>A	ENSP00000380019:p.Ser149Leu					ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.S149L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S149L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S133L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S149L	p.S149L			Q8TF68	ZN384_HUMAN			5	943	-			149					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.446C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266723	0.40095	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.10099	2.99;2.99;2.91;2.91;2.99;3.38	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.64404	1.975	0.53688	D	0.999976	P;D;P;P	0.65815	0.74;0.995;0.6;0.886	B;D;B;P	0.81914	0.214;0.995;0.235;0.494	T	0.00435	-1.1741	10	0.44086	T	0.13	-9.0428	17.4978	0.87723	0.0:0.0:1.0:0.0	.	149;149;133;149	Q8TF68;E9PHB3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	L	133;149;149;149;149;149;133;133;149;133	ENSP00000321650:S133L;ENSP00000380013:S149L;ENSP00000380019:S149L;ENSP00000354592:S149L;ENSP00000380017:S149L;ENSP00000412911:S133L	ENSP00000321650:S133L	S	-	2	0	ZNF384	6657794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	2.560000	0.86352	0.591000	0.81541	TCA		0.577	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			10	25	0	0	0	1	0	10	25				
GALNTL6	442117	broad.mit.edu	37	4	173150862	173150862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:173150862G>C	ENST00000506823.1	+	3	851	c.194G>C	c.(193-195)aGa>aCa	p.R65T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R48T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	65					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GATGGTTTGAGAAGAAAGGAC	0.448																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(193-195)aGa>aCa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							123.0	107.0	112.0					4																	173150862		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173150862G>C		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.194G>C	4.37:g.173150862G>C	ENSP00000423313:p.Arg65Thr					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R48T	p.R65T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			3	851	+			65					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.194G>C	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800693	0.31869	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.56776	0.44;0.46	5.73	4.78	0.61160	.	.	.	.	.	T	0.38772	0.1053	L	0.34521	1.04	0.32360	N	0.557359	B	0.09022	0.002	B	0.08055	0.003	T	0.36672	-0.9738	9	0.29301	T	0.29	.	8.138	0.31067	0.1607:0.0:0.8393:0.0	.	65	Q49A17	GLTL6_HUMAN	T	65;65;48	ENSP00000423313:R65T;ENSP00000423827:R48T	ENSP00000385382:R65T	R	+	2	0	GALNTL6	173387437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.061000	0.49963	2.693000	0.91896	0.655000	0.94253	AGA		0.448	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		7	24	0	0	0	1	0	7	24				
NEU3	10825	broad.mit.edu	37	11	74717448	74717448	+	Missense_Mutation	SNP	C	C	T	rs375818814		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:74717448C>T	ENST00000544263.1	+	4	1368	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	NEU3_ENST00000531509.1_Missense_Mutation_p.R433C|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Missense_Mutation_p.R324C|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Missense_Mutation_p.R433C			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	400					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.R433S(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GATTGCCTTCCGCCTGTTTAC	0.537																																						ENST00000294064.4																			2	Substitution - Missense(2)	p.R433S(2)	lung(2)	kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1297-1299)Cgc>Tgc		sialidase 3 (membrane sialidase)		C	CYS/ARG	0,4132		0,0,2066	100.0	107.0	104.0		1297	1.9	1.0	11		104	1,8393		0,1,4196	no	missense	NEU3	NM_006656.5	180	0,1,6262	TT,TC,CC		0.0119,0.0,0.0080	benign	433/462	74717448	1,12525	2066	4197	6263	SO:0001583	missense	10825							g.chr11:74717448C>T	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.1198C>T	11.37:g.74717448C>T	ENSP00000445591:p.Arg400Cys					NEU3_ENST00000545272.1_Missense_Mutation_p.R324C|NEU3_ENST00000531509.1_Missense_Mutation_p.R433C|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Missense_Mutation_p.R400C|NEU3_ENST00000532963.1_3'UTR	p.R433C	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	2224	+			433					A8K327|Q9NQE1	Missense_Mutation	SNP	ENST00000544263.1	37	c.1297C>T		.	.	.	.	.	.	.	.	.	.	C	9.024	0.985511	0.18889	0.0	1.19E-4	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.16	1.91	0.25777	Neuraminidase (2);	0.585781	0.20102	N	0.099216	T	0.68044	0.2958	L	0.31065	0.9	0.29587	N	0.848743	B;B	0.12013	0.002;0.005	B;B	0.08055	0.001;0.003	T	0.56780	-0.7922	10	0.39692	T	0.17	-6.8919	3.0715	0.06233	0.1879:0.4542:0.0:0.3579	.	400;433	Q9UQ49;A8K327	NEUR3_HUMAN;.	C	433;433;400;324	ENSP00000294064:R433C;ENSP00000432097:R433C;ENSP00000445591:R400C;ENSP00000439908:R324C	ENSP00000294064:R433C	R	+	1	0	NEU3	74395096	0.000000	0.05858	0.997000	0.53966	0.955000	0.61496	-2.560000	0.00921	0.199000	0.20427	0.591000	0.81541	CGC		0.537	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		28	165	0	0	0	1	0	28	165				
FLG2	388698	broad.mit.edu	37	1	152323297	152323297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152323297G>A	ENST00000388718.5	-	3	7037	c.6965C>T	c.(6964-6966)tCt>tTt	p.S2322F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2322					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCTACTAGATCTGGAACC	0.453																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6964-6966)tCt>tTt		filaggrin family member 2							293.0	270.0	278.0					1																	152323297		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323297G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6965C>T	1.37:g.152323297G>A	ENSP00000373370:p.Ser2322Phe					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S2322F	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7037	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2322					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6965C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	8.595	0.885524	0.17540	.	.	ENSG00000143520	ENST00000388718	T	0.22945	1.93	0.466	0.466	0.16716	.	.	.	.	.	T	0.14442	0.0349	N	0.19112	0.55	0.09310	N	1	D	0.56521	0.976	P	0.61397	0.888	T	0.09292	-1.0681	8	0.56958	D	0.05	.	.	.	.	.	2322	Q5D862	FILA2_HUMAN	F	2322	ENSP00000373370:S2322F	ENSP00000373370:S2322F	S	-	2	0	FLG2	150589921	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.004000	0.12878	0.513000	0.28278	0.306000	0.20318	TCT		0.453	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		44	170	0	0	0	1	0	44	170				
CKAP5	9793	broad.mit.edu	37	11	46842734	46842734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46842734C>A	ENST00000529230.1	-	2	95	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	CKAP5_ENST00000354558.3_Nonsense_Mutation_p.E17*|CKAP5_ENST00000415402.1_Nonsense_Mutation_p.E17*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.E17*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	17					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACCTTGTGTTCACATTTCTGA	0.383																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(49-51)Gaa>Taa		cytoskeleton associated protein 5							239.0	207.0	218.0					11																	46842734		2201	4299	6500	SO:0001587	stop_gained	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46842734C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.49G>T	11.37:g.46842734C>A	ENSP00000432768:p.Glu17*					CKAP5_ENST00000415402.1_Nonsense_Mutation_p.E17*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.E17*|CKAP5_ENST00000354558.3_Nonsense_Mutation_p.E17*	p.E17*			Q14008	CKAP5_HUMAN			2	95	-			17					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Nonsense_Mutation	SNP	ENST00000529230.1	37	c.49G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.273337	0.97431	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558;ENST00000526496	.	.	.	5.81	5.81	0.92471	.	0.043655	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-2.1253	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000310227:E17X	E	-	1	0	CKAP5	46799310	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.666000	0.83877	2.752000	0.94435	0.557000	0.71058	GAA		0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		30	119	1	0	3.76114e-14	1	3.97812e-14	30	119				
ARPP21	10777	broad.mit.edu	37	3	35763098	35763098	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:35763098G>C	ENST00000187397.4	+	14	1453	c.997G>C	c.(997-999)Ggc>Cgc	p.G333R	ARPP21_ENST00000337271.5_Splice_Site_p.G279R|ARPP21_ENST00000417925.1_Splice_Site_p.G299R|ARPP21_ENST00000458225.1_Splice_Site_p.G299R|ARPP21_ENST00000444190.1_Splice_Site_p.G279R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	333					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTACTCCAGGGGCAACAGAGA	0.527																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.e14-1		cAMP-regulated phosphoprotein, 21kDa							47.0	45.0	45.0					3																	35763098		2203	4300	6503	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35763098G>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.996-1G>C	3.37:g.35763098G>C						ARPP21_ENST00000417925.1_Splice_Site_p.G299_splice|ARPP21_ENST00000444190.1_Splice_Site_p.G279_splice|ARPP21_ENST00000337271.5_Splice_Site_p.G279_splice|ARPP21_ENST00000458225.1_Splice_Site_p.G299_splice	p.G333_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1453	+			333					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Splice_Site	SNP	ENST00000187397.4	37	c.995_splice	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.232818|3.232818	0.58777|0.58777	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000425289|ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.|T;T;T;T;T	.|0.24151	.|1.87;1.87;1.87;1.87;1.87	5.01|5.01	1.16|1.16	0.20824|0.20824	.|.	0.312294|0.312294	0.34291|0.34291	N|N	0.004086|0.004086	T|T	0.25158|0.25158	0.0611|0.0611	L|L	0.48642|0.48642	1.525|1.525	0.38061|0.38061	D|D	0.936088|0.936088	.|P;P;P	.|0.43938	.|0.817;0.822;0.817	.|P;P;P	.|0.51079	.|0.658;0.456;0.658	T|T	0.19844|0.19844	-1.0293|-1.0293	6|10	.|0.15066	.|T	.|0.55	-1.7154|-1.7154	5.073|5.073	0.14617|0.14617	0.2854:0.0:0.5803:0.1343|0.2854:0.0:0.5803:0.1343	.|.	.|299;333;279	.|Q9UBL0-3;Q9UBL0;Q9UBL0-4	.|.;ARP21_HUMAN;.	A|R	105|299;279;279;333;299	.|ENSP00000414351:G299R;ENSP00000337792:G279R;ENSP00000405276:G279R;ENSP00000187397:G333R;ENSP00000412326:G299R	.|ENSP00000187397:G333R	G|G	+|+	2|1	0|0	ARPP21|ARPP21	35738102|35738102	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	4.311000|4.311000	0.59147|0.59147	0.084000|0.084000	0.17077|0.17077	-0.142000|-0.142000	0.14014|0.14014	GGG|GGC		0.527	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Missense_Mutation	5	23	0	0	0	1	0	5	23				
TACC2	10579	broad.mit.edu	37	10	124008654	124008654	+	Silent	SNP	G	G	A	rs376082640		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:124008654G>A	ENST00000369005.1	+	21	8983	c.8643G>A	c.(8641-8643)gcG>gcA	p.A2881A	TACC2_ENST00000334433.3_Silent_p.A2881A|TACC2_ENST00000368999.1_Silent_p.A971A|TACC2_ENST00000260733.3_Silent_p.A959A|TACC2_ENST00000369001.1_Silent_p.A508A|TACC2_ENST00000453444.2_Silent_p.A2808A|TACC2_ENST00000369004.3_Silent_p.A941A|TACC2_ENST00000513429.1_Silent_p.A1027A|TACC2_ENST00000515273.1_Silent_p.A2808A|TACC2_ENST00000360561.3_Silent_p.A929A|TACC2_ENST00000369000.1_Silent_p.A504A|TACC2_ENST00000515603.1_Silent_p.A2759A|TACC2_ENST00000358010.1_Silent_p.A1027A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2881					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGTGCACGCGGAGGAGAAAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18007	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8641-8643)gcG>gcA		transforming, acidic coiled-coil containing protein 2		G	,,,	0,4406		0,0,2203	80.0	84.0	83.0		2877,2787,3081,8643	-10.3	0.0	10		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	959/1027,929/997,1027/1095,2881/2949	124008654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124008654G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8643G>A	10.37:g.124008654G>A						TACC2_ENST00000260733.3_Silent_p.A959A|TACC2_ENST00000368999.1_Silent_p.A971A|TACC2_ENST00000369000.1_Silent_p.A504A|TACC2_ENST00000515603.1_Silent_p.A2759A|TACC2_ENST00000334433.3_Silent_p.A2881A|TACC2_ENST00000513429.1_Silent_p.A1027A|TACC2_ENST00000369004.3_Silent_p.A941A|TACC2_ENST00000358010.1_Silent_p.A1027A|TACC2_ENST00000515273.1_Silent_p.A2808A|TACC2_ENST00000360561.3_Silent_p.A929A|TACC2_ENST00000453444.2_Silent_p.A2808A|TACC2_ENST00000369001.1_Silent_p.A508A	p.A2881A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			21	8983	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2881					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.8643G>A	CCDS7626.1																																																																																				0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	25	0	0	0	1	0	6	25				
WIPF1	7456	broad.mit.edu	37	2	175431795	175431795	+	Intron	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:175431795C>T	ENST00000392547.2	-	7	1556				WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000392546.2_Intron|WIPF1_ENST00000409891.1_Missense_Mutation_p.E487K|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Intron|WIPF1_ENST00000467149.1_5'Flank	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CAGAAATACTCACTCCGGCTT	0.473																																						ENST00000409891.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(1459-1461)Gag>Aag		WAS/WASL interacting protein family, member 1							91.0	92.0	91.0					2																	175431795		2203	4300	6503	SO:0001627	intron_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175431795C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1456+2G>A	2.37:g.175431795C>T						AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000272746.5_Intron|WIPF1_ENST00000392547.2_Intron|WIPF1_ENST00000392546.2_Intron|AC018890.6_ENST00000442996.1_RNA	p.E487K			O43516	WIPF1_HUMAN			7	1661	-			0					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.1459G>A	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501992	0.44455	.	.	ENSG00000115935	ENST00000409891	T	0.41758	0.99	5.5	1.06	0.20224	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16600	-1.0397	8	0.87932	D	0	.	8.1579	0.31180	0.0:0.5029:0.0:0.4971	.	487	O43516-2	.	K	487	ENSP00000386431:E487K	ENSP00000386431:E487K	E	-	1	0	WIPF1	175140041	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	0.071000	0.14594	0.330000	0.23485	0.650000	0.86243	GAG		0.473	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		5	27	0	0	0	1	0	5	27				
PIGG	54872	broad.mit.edu	37	4	493173	493173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493173G>A	ENST00000453061.2	+	1	155	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	PIGG_ENST00000310340.5_Missense_Mutation_p.V17M|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000383028.4_Missense_Mutation_p.V17M|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	17					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCGATCGAGGTGCTAGGGAT	0.667																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(49-51)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class G							65.0	57.0	60.0					4																	493173		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:493173G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.49G>A	4.37:g.493173G>A	ENSP00000415203:p.Val17Met					PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V17M|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.V17M|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR	p.V17M	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			1	155	+			17					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.49G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307369	0.81247	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.11712	3.15;3.15;2.75	4.4	4.4	0.53042	.	0.459276	0.22270	N	0.062271	T	0.21347	0.0514	M	0.64997	1.995	0.80722	D	1	D;P;P	0.58620	0.983;0.788;0.933	P;B;P	0.53649	0.731;0.406;0.689	T	0.00677	-1.1614	10	0.42905	T	0.14	.	12.8064	0.57616	0.0:0.0:1.0:0.0	.	17;17;17	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	M	17	ENSP00000311750:V17M;ENSP00000415203:V17M;ENSP00000372494:V17M	ENSP00000311750:V17M	V	+	1	0	PIGG	483173	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.389000	0.52516	2.166000	0.68216	0.557000	0.71058	GTG		0.667	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	20	0	0	0	1	0	5	20				
FRG1	2483	broad.mit.edu	37	4	190873403	190873403	+	Missense_Mutation	SNP	G	G	C	rs200624002		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:190873403G>C	ENST00000226798.4	+	3	442	c.220G>C	c.(220-222)Gac>Cac	p.D74H	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	74					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ACATGCACTCGACAATGGTCT	0.398																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(220-222)Gac>Cac		FSHD region gene 1							93.0	107.0	102.0					4																	190873403		2202	4297	6499	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873403G>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.220G>C	4.37:g.190873403G>C	ENSP00000226798:p.Asp74His					FRG1_ENST00000514482.1_3'UTR	p.D74H	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	442	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	74					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.220G>C	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.126666	0.77549	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.64618	1.81;-0.11	3.47	3.47	0.39725	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.88450	2.955	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.84470	0.0599	10	0.72032	D	0.01	3.0E-4	13.3129	0.60390	0.0:0.0:1.0:0.0	.	74	Q14331	FRG1_HUMAN	H	74;11	ENSP00000226798:D74H;ENSP00000435943:D11H	ENSP00000226798:D74H	D	+	1	0	FRG1	191110397	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	9.012000	0.93624	2.238000	0.73509	0.539000	0.68188	GAC		0.398	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		32	111	0	0	0	1	0	32	111				
FAM118A	55007	broad.mit.edu	37	22	45726490	45726490	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45726490G>C	ENST00000216214.3	+	6	1363	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	FAM118A_ENST00000405548.3_5'UTR|FAM118A_ENST00000441876.2_Missense_Mutation_p.E177Q	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	177						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTAGGTCCTTGAATGGGCAAG	0.468																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(529-531)Gaa>Caa		family with sequence similarity 118, member A							110.0	97.0	102.0					22																	45726490		2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45726490G>C	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.529G>C	22.37:g.45726490G>C	ENSP00000216214:p.Glu177Gln					FAM118A_ENST00000405548.3_5'UTR|FAM118A_ENST00000441876.2_Missense_Mutation_p.E177Q	p.E177Q	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1363	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	177					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.529G>C	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	G	3.720	-0.057754	0.07317	.	.	ENSG00000100376	ENST00000216214;ENST00000441876	T;T	0.45668	0.89;0.89	6.17	5.15	0.70609	.	0.140928	0.48767	N	0.000175	T	0.24122	0.0584	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06770	-1.0808	10	0.14656	T	0.56	-11.1079	15.7	0.77536	0.0:0.7373:0.2627:0.0	.	177	Q9NWS6	F118A_HUMAN	Q	177	ENSP00000216214:E177Q;ENSP00000395892:E177Q	ENSP00000216214:E177Q	E	+	1	0	FAM118A	44105154	0.996000	0.38824	0.929000	0.37066	0.194000	0.23727	2.839000	0.48207	1.627000	0.50400	-0.147000	0.13772	GAA		0.468	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		14	34	0	0	0	1	0	14	34				
ZNF335	63925	broad.mit.edu	37	20	44598318	44598318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:44598318C>G	ENST00000322927.2	-	3	314	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	72					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAGCTGCTCTCAGATACCTCC	0.602											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(214-216)Gag>Cag		zinc finger protein 335							64.0	70.0	68.0					20																	44598318		2203	4299	6502	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44598318C>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.214G>C	20.37:g.44598318C>G	ENSP00000325326:p.Glu72Gln		OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	ZNF335_ENST00000426788.1_Intron	p.E72Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			3	314	-		Myeloproliferative disorder(115;0.0122)	72					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.214G>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683110	0.68157	.	.	ENSG00000198026	ENST00000322927	T	0.15718	2.4	4.87	4.87	0.63330	.	0.066368	0.64402	D	0.000020	T	0.25306	0.0615	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.08638	-1.0712	10	0.62326	D	0.03	-27.4678	14.8953	0.70639	0.0:1.0:0.0:0.0	.	72	Q9H4Z2	ZN335_HUMAN	Q	72	ENSP00000325326:E72Q	ENSP00000325326:E72Q	E	-	1	0	ZNF335	44031725	1.000000	0.71417	0.942000	0.38095	0.407000	0.30961	6.695000	0.74593	2.526000	0.85167	0.563000	0.77884	GAG		0.602	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		25	112	0	0	0	1	0	25	112				
RCOR1	23186	broad.mit.edu	37	14	103173691	103173691	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:103173691C>G	ENST00000570597.1	+	5	493	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	RCOR1_ENST00000262241.6_Missense_Mutation_p.L168V			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	165	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTTGTAGGCTCTTGGGATGCT	0.343																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(502-504)Ctt>Gtt		REST corepressor 1							104.0	105.0	105.0					14																	103173691		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103173691C>G	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.493C>G	14.37:g.103173691C>G	ENSP00000459789:p.Leu165Val					RCOR1_ENST00000570597.1_Missense_Mutation_p.L165V	p.L168V	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			5	728	+			165			ELM2.|Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.502C>G		.	.	.	.	.	.	.	.	.	.	C	19.35	3.810822	0.70797	.	.	ENSG00000089902	ENST00000262241	.	.	.	4.98	4.98	0.66077	ELM2 domain (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.86420	2.815	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.87394	0.2365	9	0.87932	D	0	-16.6303	18.6211	0.91321	0.0:1.0:0.0:0.0	.	165	Q9UKL0	RCOR1_HUMAN	V	165	.	ENSP00000262241:L165V	L	+	1	0	RCOR1	102243444	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	3.732000	0.55021	2.480000	0.83734	0.655000	0.94253	CTT		0.343	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		13	58	0	0	0	1	0	13	58				
CLDN19	149461	broad.mit.edu	37	1	43201677	43201677	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43201677G>A	ENST00000296387.1	-	4	688	c.498C>T	c.(496-498)ttC>ttT	p.F166F	CLDN19_ENST00000372539.3_Silent_p.F166F|CLDN19_ENST00000539749.1_Missense_Mutation_p.S138L	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	166					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCAGCCCACGAACAGGGCTG	0.647																																						ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(412-414)tCg>tTg		claudin 19							13.0	14.0	14.0					1																	43201677		2184	4264	6448	SO:0001819	synonymous_variant	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43201677G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.498C>T	1.37:g.43201677G>A						CLDN19_ENST00000372539.3_Silent_p.F166F|CLDN19_ENST00000296387.1_Silent_p.F166F	p.S138L	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN			3	603	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	138					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.413C>T	CCDS471.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656628	0.47467	.	.	ENSG00000164007	ENST00000539749	D	0.87809	-2.3	4.56	-5.61	0.02489	.	.	.	.	.	T	0.80737	0.4680	.	.	.	0.54753	D	0.999982	P	0.38677	0.642	B	0.35182	0.197	T	0.71869	-0.4462	8	0.72032	D	0.01	.	13.4947	0.61419	0.3835:0.0:0.6165:0.0	.	138	F5H5P9	.	L	138	ENSP00000443229:S138L	ENSP00000443229:S138L	S	-	2	0	CLDN19	42974264	0.006000	0.16342	0.855000	0.33649	0.491000	0.33493	-0.822000	0.04448	-1.406000	0.02045	-0.487000	0.04747	TCG		0.647	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		3	5	0	0	0	1	0	3	5				
MS4A15	219995	broad.mit.edu	37	11	60531232	60531232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60531232G>T	ENST00000405633.3	+	2	105	c.26G>T	c.(25-27)gGa>gTa	p.G9V	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.G9V	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	9						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GCCAGCAATGGAGTGTTTGTT	0.527																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(25-27)gGa>gTa		membrane-spanning 4-domains, subfamily A, member 15							97.0	96.0	96.0					11																	60531232		2041	4193	6234	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60531232G>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.26G>T	11.37:g.60531232G>T	ENSP00000386022:p.Gly9Val					MS4A15_ENST00000528170.1_Missense_Mutation_p.G9V|MS4A15_ENST00000337911.4_Intron	p.G9V	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	105	+			9					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.26G>T	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208979	0.39003	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.35236	1.32;2.81	5.21	5.21	0.72293	.	.	.	.	.	T	0.45597	0.1350	N	0.24115	0.695	0.47698	D	0.999498	D;D	0.89917	0.994;1.0	P;D	0.91635	0.898;0.999	T	0.40794	-0.9544	9	0.46703	T	0.11	-4.059	14.2397	0.65950	0.0:0.0:1.0:0.0	.	9;9	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	V	9	ENSP00000434165:G9V;ENSP00000386022:G9V	ENSP00000386022:G9V	G	+	2	0	MS4A15	60287808	1.000000	0.71417	0.976000	0.42696	0.039000	0.13416	4.542000	0.60677	2.404000	0.81709	0.462000	0.41574	GGA		0.527	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			35	146	1	0	6.97489e-18	1	7.41082e-18	35	146				
ATG2B	55102	broad.mit.edu	37	14	96775928	96775928	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:96775928C>T	ENST00000359933.4	-	29	5058	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1389					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCACTGGAATCTACCTATAGC	0.353																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4165-4167)Gat>Aat		autophagy related 2B							122.0	104.0	110.0					14																	96775928		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96775928C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4165G>A	14.37:g.96775928C>T	ENSP00000353010:p.Asp1389Asn					ATG2B_ENST00000261834.5_5'UTR	p.D1389N	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	29	5058	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1389					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4165G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367702	0.42003	.	.	ENSG00000066739	ENST00000359933	T	0.47869	0.83	5.49	4.54	0.55810	.	0.280952	0.34802	N	0.003672	T	0.43590	0.1254	L	0.60455	1.87	0.54753	D	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.28332	-1.0047	10	0.18276	T	0.48	.	15.4002	0.74834	0.1398:0.8602:0.0:0.0	.	1389	Q96BY7	ATG2B_HUMAN	N	1389	ENSP00000353010:D1389N	ENSP00000261834:D33N	D	-	1	0	ATG2B	95845681	1.000000	0.71417	0.970000	0.41538	0.356000	0.29392	4.986000	0.63851	2.718000	0.92993	0.655000	0.94253	GAT		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		11	31	0	0	0	1	0	11	31				
ZNF805	390980	broad.mit.edu	37	19	57765274	57765274	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57765274C>G	ENST00000414468.2	+	4	1087	c.1087C>G	c.(1087-1089)Cag>Gag	p.Q363E	ZNF805_ENST00000354309.4_Missense_Mutation_p.Q230E|ZNF805_ENST00000535550.1_Missense_Mutation_p.Q230E	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GTGGCACCAGCAGACTCATAC	0.507																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(688-690)Cag>Gag		zinc finger protein 805							64.0	65.0	65.0					19																	57765274		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765274C>G	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1087C>G	19.37:g.57765274C>G	ENSP00000412999:p.Gln363Glu					ZNF805_ENST00000414468.2_Missense_Mutation_p.Q363E|ZNF805_ENST00000354309.4_Missense_Mutation_p.Q230E	p.Q230E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	1184	+			363					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.688C>G	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718673	0.48622	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.18174	2.23;2.23;2.23	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.476830	0.04677	N	0.411665	T	0.22322	0.0538	N	0.14661	0.345	0.22989	N	0.998469	P	0.47191	0.891	P	0.53102	0.718	T	0.43621	-0.9380	10	0.87932	D	0	.	11.8902	0.52624	0.0:0.8215:0.1785:0.0	.	363	Q5CZA5	ZN805_HUMAN	E	230;363;230	ENSP00000440067:Q230E;ENSP00000412999:Q363E;ENSP00000365414:Q230E	ENSP00000365414:Q230E	Q	+	1	0	ZNF805	62457086	0.021000	0.18746	1.000000	0.80357	0.984000	0.73092	0.254000	0.18314	2.394000	0.81467	0.563000	0.77884	CAG		0.507	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		4	69	0	0	0	1	0	4	69				
AC096579.13	0	broad.mit.edu	37	2	89117810	89117810	+	RNA	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:89117810C>A	ENST00000452230.1	-	0	172																											GGATTCAAATCCAAACAAGGA	0.507																																						ENST00000452230.1																			0																																																			0							g.chr2:89117810C>A																													2.37:g.89117810C>A														0	172	-									RNA	SNP	ENST00000452230.1	37																																																																																						0.507	AC096579.13-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323493.1			5	24	1	0	0.184627	1	0.185023	5	24				
MKX	283078	broad.mit.edu	37	10	28023669	28023669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:28023669G>T	ENST00000375790.5	-	5	986	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	MKX_ENST00000419761.1_Missense_Mutation_p.P185Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	185					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATGGTGAACTGGGGTATTATA	0.498																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(553-555)cCa>cAa		mohawk homeobox							130.0	130.0	130.0					10																	28023669		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023669G>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.554C>A	10.37:g.28023669G>T	ENSP00000364946:p.Pro185Gln					MKX_ENST00000419761.1_Missense_Mutation_p.P185Q	p.P185Q			Q8IYA7	MKX_HUMAN			5	986	-			185					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.554C>A	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040284	0.75732	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	.	0.053182	0.85682	D	0.000000	T	0.64681	0.2620	L	0.56769	1.78	0.80722	D	1	P	0.51351	0.944	B	0.44044	0.439	T	0.66701	-0.5857	10	0.45353	T	0.12	-11.7085	19.5918	0.95518	0.0:0.0:1.0:0.0	.	185	Q8IYA7	MKX_HUMAN	Q	185	ENSP00000364946:P185Q;ENSP00000400896:P185Q	ENSP00000364946:P185Q	P	-	2	0	MKX	28063675	1.000000	0.71417	0.197000	0.23402	0.820000	0.46376	7.336000	0.79245	2.626000	0.88956	0.558000	0.71614	CCA		0.498	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		12	62	1	0	1.52009e-12	1	1.59695e-12	12	62				
BPTF	2186	broad.mit.edu	37	17	65907895	65907895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:65907895C>T	ENST00000321892.4	+	13	4334	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1299*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1425*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1286*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1425					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGTGTCTATTCAGGATAGCAG	0.403																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4273-4275)Cag>Tag		bromodomain PHD finger transcription factor							108.0	106.0	107.0					17																	65907895		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907895C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4273C>T	17.37:g.65907895C>T	ENSP00000315454:p.Gln1425*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1299*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1425*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1286*	p.Q1425*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4334	+	all_cancers(12;6e-11)		1425					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.4273C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.022782	0.97211	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-1.7801	13.6932	0.62559	0.1542:0.8458:0.0:0.0	.	.	.	.	X	1299;1425;1425	.	ENSP00000307208:Q1299X	Q	+	1	0	BPTF	63338357	0.988000	0.35896	0.473000	0.27253	0.080000	0.17528	3.657000	0.54474	2.424000	0.82194	0.650000	0.86243	CAG		0.403	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		13	85	0	0	0	1	0	13	85				
DNAH17	8632	broad.mit.edu	37	17	76568947	76568947	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76568947C>T	ENST00000585328.1	-	3	499	c.375G>A	c.(373-375)gaG>gaA	p.E125E	DNAH17_ENST00000389840.5_Silent_p.E125E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	125	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCCATGTTCTCACTTTGGT	0.527																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(373-375)gaG>gaA		dynein, axonemal, heavy chain 17							49.0	51.0	50.0					17																	76568947		1989	4167	6156	SO:0001819	synonymous_variant	8632							g.chr17:76568947C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.375G>A	17.37:g.76568947C>T						DNAH17_ENST00000585328.1_Silent_p.E125E	p.E125E					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		3	499	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.375G>A																																																																																					0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	32	0	0	0	1	0	7	32				
RPL3L	6123	broad.mit.edu	37	16	1995860	1995860	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:1995860C>T	ENST00000268661.7	-	8	1117	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	341					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACCCGCTTCTTGGTACCAG	0.622																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1021-1023)aaG>aaA		ribosomal protein L3-like							162.0	138.0	146.0					16																	1995860		2199	4300	6499	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995860C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1023G>A	16.37:g.1995860C>T							p.K341K	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			8	1117	-			341						Silent	SNP	ENST00000268661.7	37	c.1023G>A	CCDS10450.1																																																																																				0.622	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		16	77	0	0	0	1	0	16	77				
PYROXD2	84795	broad.mit.edu	37	10	100144783	100144783	+	Silent	SNP	G	G	A	rs369487361		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:100144783G>A	ENST00000370575.4	-	15	1644	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	532							oxidoreductase activity (GO:0016491)	p.F532F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGGGGCGGGCGAAGTAGAGCT	0.612																																						ENST00000370575.4																			1	Substitution - coding silent(1)	p.F532F(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1594-1596)ttC>ttT		pyridine nucleotide-disulphide oxidoreductase domain 2		G		0,4406		0,0,2203	82.0	77.0	79.0		1596	-6.9	0.8	10		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PYROXD2	NM_032709.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		532/582	100144783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100144783G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1596C>T	10.37:g.100144783G>A						PYROXD2_ENST00000483923.1_5'UTR	p.F532F	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			15	1644	-			532					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1596C>T	CCDS7474.1																																																																																				0.612	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		8	47	0	0	0	1	0	8	47				
ARMC10	83787	broad.mit.edu	37	7	102727178	102727178	+	Silent	SNP	G	G	C	rs150220068	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:102727178G>C	ENST00000323716.3	+	4	887	c.495G>C	c.(493-495)ctG>ctC	p.L165L	ARMC10_ENST00000441711.2_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L|ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000541300.1_Silent_p.L130L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	165					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L165L(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAAATAACCTGAGTGTGAATG	0.289																																						ENST00000323716.3																			2	Substitution - coding silent(2)	p.L165L(2)	urinary_tract(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(493-495)ctG>ctC		armadillo repeat containing 10		G	,,,,,	1,4405		0,1,2202	78.0	80.0	80.0		390,495,390,390,390,495	1.7	1.0	7	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARMC10	NM_001161009.2,NM_001161010.2,NM_001161011.2,NM_001161012.2,NM_001161013.2,NM_031905.4	,,,,,	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	,,,,,	130/309,165/285,130/285,130/250,130/226,165/344	102727178	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102727178G>C	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.495G>C	7.37:g.102727178G>C						ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L|ARMC10_ENST00000541300.1_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L|ARMC10_ENST00000441711.2_Silent_p.L130L	p.L165L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN			4	887	+			165					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Silent	SNP	ENST00000323716.3	37	c.495G>C	CCDS5728.1																																																																																				0.289	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		3	98	0	0	0	1	0	3	98				
PIGQ	9091	broad.mit.edu	37	16	628881	628881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:628881C>T	ENST00000026218.5	+	6	1254	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	PIGQ_ENST00000409527.2_Missense_Mutation_p.S389L|PIGQ_ENST00000321878.5_Missense_Mutation_p.S389L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	389	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCCCTCCTCTCGGACATTATC	0.647																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1165-1167)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class Q							155.0	134.0	141.0					16																	628881		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:628881C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1166C>T	16.37:g.628881C>T	ENSP00000026218:p.Ser389Leu					PIGQ_ENST00000409527.2_Missense_Mutation_p.S389L|PIGQ_ENST00000026218.5_Missense_Mutation_p.S389L	p.S389L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			6	1325	+		Hepatocellular(780;0.00335)	389			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1166C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094173	0.76870	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44482	0.92;0.92;2.22	5.49	5.49	0.81192	.	0.186027	0.49305	D	0.000145	T	0.60753	0.2293	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.59010	-0.7534	10	0.49607	T	0.09	-16.4684	18.3555	0.90356	0.0:1.0:0.0:0.0	.	403;389;389	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	L	389	ENSP00000386760:S389L;ENSP00000326674:S389L;ENSP00000026218:S389L	ENSP00000026218:S389L	S	+	2	0	PIGQ	568882	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	7.769000	0.85360	2.591000	0.87537	0.591000	0.81541	TCG		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		7	66	0	0	0	1	0	7	66				
EPB41L4B	54566	broad.mit.edu	37	9	111976099	111976099	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:111976099C>G	ENST00000374566.3	-	17	2151		c.e17-1			NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B						actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACTCAGTTCTACAAAGCAG	0.517																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e17-1		erythrocyte membrane protein band 4.1 like 4B							54.0	53.0	53.0					9																	111976099		1894	4122	6016	SO:0001630	splice_region_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111976099C>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1634-1G>C	9.37:g.111976099C>G								NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			17	2151	-								Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Splice_Site	SNP	ENST00000374566.3	37		CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660240	0.67586	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.823	0.70087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L4B	111015920	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	4.766000	0.62279	2.576000	0.86940	0.555000	0.69702	.		0.517	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	Intron	23	61	0	0	0	1	0	23	61				
PCDH20	64881	broad.mit.edu	37	13	61987714	61987714	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61987714G>A	ENST00000409186.1	-	5	2623	c.518C>T	c.(517-519)tCt>tTt	p.S173F	PCDH20_ENST00000409204.4_Missense_Mutation_p.S173F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	173	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAAGAGTCAGAAGGAGAGGA	0.547																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(517-519)tCt>tTt		protocadherin 20							84.0	68.0	74.0					13																	61987714		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987714G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.518C>T	13.37:g.61987714G>A	ENSP00000386653:p.Ser173Phe					PCDH20_ENST00000409204.4_Missense_Mutation_p.S173F	p.S173F			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2623	-		Breast(118;0.195)|Prostate(109;0.229)	146			Cadherin 1.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.518C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	g	14.12	2.439736	0.43326	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.57752	0.38;0.38	5.65	4.8	0.61643	.	0.096923	0.46145	D	0.000304	T	0.58878	0.2153	M	0.90425	3.115	0.09310	N	1	B	0.27117	0.168	B	0.21360	0.034	T	0.59979	-0.7352	10	0.66056	D	0.02	.	12.3179	0.54969	0.0778:0.0:0.9222:0.0	.	173	A8K1K9	.	F	173	ENSP00000387250:S173F;ENSP00000386653:S173F	ENSP00000386653:S173F	S	-	2	0	PCDH20	60885715	1.000000	0.71417	0.940000	0.37924	0.957000	0.61999	4.030000	0.57260	2.664000	0.90586	0.651000	0.88453	TCT		0.547	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		13	64	0	0	0	1	0	13	64				
CASP8	841	broad.mit.edu	37	2	202131323	202131323	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131323C>G	ENST00000432109.2	+	3	303	c.114C>G	c.(112-114)atC>atG	p.I38M	CASP8_ENST00000264275.5_Missense_Mutation_p.I38M|CASP8_ENST00000264274.9_Missense_Mutation_p.I38M|CASP8_ENST00000358485.4_Missense_Mutation_p.I97M|CASP8_ENST00000323492.7_Missense_Mutation_p.I38M|CASP8_ENST00000392258.3_Missense_Mutation_p.I38M|CASP8_ENST00000392259.2_Missense_Mutation_p.I38M|CASP8_ENST00000392266.3_Missense_Mutation_p.I38M	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	38	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGAACCCATCAAGGATGCCT	0.458										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(289-291)atC>atG		caspase 8, apoptosis-related cysteine peptidase							74.0	75.0	75.0					2																	202131323		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131323C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.114C>G	2.37:g.202131323C>G	ENSP00000412523:p.Ile38Met	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.I38M|CASP8_ENST00000264274.9_Missense_Mutation_p.I38M|CASP8_ENST00000264275.5_Missense_Mutation_p.I38M|CASP8_ENST00000432109.2_Missense_Mutation_p.I38M|CASP8_ENST00000392266.3_Missense_Mutation_p.I38M|CASP8_ENST00000392258.3_Missense_Mutation_p.I38M|CASP8_ENST00000392259.2_Missense_Mutation_p.I38M	p.I97M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	487	+			38					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.291C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052586	0.36181	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.47	3.18	0.36537	DEATH-like (2);Death effector (3);	0.173262	0.51477	D	0.000081	D	0.90913	0.7144	M	0.74546	2.27	0.24784	N	0.992798	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;1.0;1.0;0.999;0.999;1.0	D;P;D;D;D;D;D;D;D	0.87578	0.998;0.869;0.998;0.997;0.991;0.994;0.981;0.991;0.994	D	0.84179	0.0438	10	0.62326	D	0.03	.	12.127	0.53922	0.0:0.8197:0.0:0.1803	.	38;38;38;38;97;38;38;38;38	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	M	38;38;38;38;38;38;38;38;38;97;38;38;38;38	ENSP00000376091:I38M;ENSP00000264274:I38M;ENSP00000376088:I38M;ENSP00000376094:I38M;ENSP00000412523:I38M;ENSP00000264275:I38M;ENSP00000396869:I38M;ENSP00000376087:I38M;ENSP00000388306:I38M;ENSP00000351273:I97M;ENSP00000397528:I38M;ENSP00000325722:I38M;ENSP00000390641:I38M	ENSP00000264274:I38M	I	+	3	3	CASP8	201839568	0.019000	0.18553	0.561000	0.28357	0.380000	0.30137	0.110000	0.15437	0.543000	0.28864	0.561000	0.74099	ATC		0.458	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		16	42	0	0	0	1	0	16	42				
TEPP	374739	broad.mit.edu	37	16	58018668	58018668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:58018668C>A	ENST00000441824.2	+	4	616	c.579C>A	c.(577-579)ttC>ttA	p.F193L	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Missense_Mutation_p.F193L	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	193						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GGTCCCACTTCGTGTCCTCGG	0.672																																						ENST00000290871.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						c.(577-579)ttC>ttA		testis, prostate and placenta expressed							34.0	28.0	30.0					16																	58018668		2196	4299	6495	SO:0001583	missense	374739					extracellular region		g.chr16:58018668C>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.579C>A	16.37:g.58018668C>A	ENSP00000401917:p.Phe193Leu					TEPP_ENST00000441824.2_Missense_Mutation_p.F193L|TEPP_ENST00000569996.1_3'UTR	p.F193L	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN			4	616	+			193					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.579C>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992383	0.35131	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59502	0.26;0.27	5.16	0.161	0.14977	.	0.184843	0.37715	N	0.001976	T	0.48059	0.1479	M	0.62154	1.92	0.09310	N	1	B;B	0.34015	0.212;0.435	B;B	0.34242	0.11;0.178	T	0.44003	-0.9356	10	0.59425	D	0.04	-4.8105	5.6935	0.17843	0.0:0.4977:0.306:0.1963	.	193;193	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	L	193	ENSP00000290871:F193L;ENSP00000401917:F193L	ENSP00000290871:F193L	F	+	3	2	TEPP	56576169	0.756000	0.28383	0.044000	0.18714	0.395000	0.30598	-0.495000	0.06443	0.159000	0.19401	-0.321000	0.08615	TTC		0.672	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		6	9	1	0	0.0381472	1	0.0383936	6	9				
RYR1	6261	broad.mit.edu	37	19	38983224	38983224	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:38983224G>C	ENST00000359596.3	+	38	6222	c.6222G>C	c.(6220-6222)aaG>aaC	p.K2074N	RYR1_ENST00000355481.4_Missense_Mutation_p.K2074N|RYR1_ENST00000360985.3_Missense_Mutation_p.K2074N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2074	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCTGGTGAAGAAGAAGGAAG	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6220-6222)aaG>aaC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						51.0	48.0	49.0					19																	38983224		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983224G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6222G>C	19.37:g.38983224G>C	ENSP00000352608:p.Lys2074Asn					RYR1_ENST00000360985.3_Missense_Mutation_p.K2074N|RYR1_ENST00000359596.3_Missense_Mutation_p.K2074N	p.K2074N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6353	+	all_cancers(60;7.91e-06)		2074			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6222G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	13.06	2.124353	0.37533	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72942	-0.7;-0.7;-0.7	5.05	5.05	0.67936	.	0.098068	0.38326	U	0.001737	T	0.64316	0.2587	M	0.76328	2.33	0.29365	N	0.864395	B;P	0.49447	0.358;0.924	B;B	0.37091	0.153;0.241	T	0.70085	-0.4969	10	0.48119	T	0.1	.	7.9316	0.29905	0.1756:0.0:0.8244:0.0	.	2074;2074	P21817-2;P21817	.;RYR1_HUMAN	N	2074	ENSP00000352608:K2074N;ENSP00000347667:K2074N;ENSP00000354254:K2074N	ENSP00000347667:K2074N	K	+	3	2	RYR1	43675064	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.396000	0.59684	2.349000	0.79799	0.539000	0.68188	AAG		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	35	0	0	0	1	0	19	35				
MGA	23269	broad.mit.edu	37	15	42041056	42041056	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42041056C>T	ENST00000570161.1	+	15	5434	c.5434C>T	c.(5434-5436)Cta>Tta	p.L1812L	MGA_ENST00000389936.4_Silent_p.L1773L|MGA_ENST00000566586.1_Silent_p.L1603L|MGA_ENST00000219905.7_Silent_p.L1812L|MGA_ENST00000545763.1_Silent_p.L1603L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCCAGCTTCTACCTTTGCA	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5434-5436)Cta>Tta		MGA, MAX dimerization protein							123.0	118.0	120.0					15																	42041056		1953	4165	6118	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041056C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5434C>T	15.37:g.42041056C>T						MGA_ENST00000389936.4_Silent_p.L1773L|MGA_ENST00000570161.1_Silent_p.L1812L|MGA_ENST00000545763.1_Silent_p.L1603L|MGA_ENST00000566586.1_Silent_p.L1603L	p.L1812L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	16	5615	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1773					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.5434C>T	CCDS55959.1																																																																																				0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		14	36	0	0	0	1	0	14	36				
ZFAND6	54469	broad.mit.edu	37	15	80415055	80415055	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:80415055C>G	ENST00000261749.6	+	5	699	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	ZFAND6_ENST00000561060.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559157.1_Missense_Mutation_p.Q81E|ZFAND6_ENST00000558087.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559835.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000558494.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559775.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000558688.1_Missense_Mutation_p.Q93E	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	93	Ser-rich.				apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGTATCAAATCAGTCACTTTT	0.343																																						ENST00000261749.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(277-279)Cag>Gag		zinc finger, AN1-type domain 6							127.0	122.0	124.0					15																	80415055		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80415055C>G	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.277C>G	15.37:g.80415055C>G	ENSP00000261749:p.Gln93Glu					ZFAND6_ENST00000558494.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559835.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559157.1_Missense_Mutation_p.Q81E|ZFAND6_ENST00000558087.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559775.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000561060.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000558688.1_Missense_Mutation_p.Q93E	p.Q93E	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN			5	699	+			93			Ser-rich.		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.277C>G	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886240	0.33348	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.52	5.52	0.82312	.	0.641780	0.13854	N	0.358158	T	0.44477	0.1295	L	0.29908	0.895	0.35396	D	0.791191	B;B	0.22276	0.002;0.067	B;B	0.14578	0.004;0.011	T	0.42531	-0.9446	9	0.02654	T	1	-5.2926	17.6546	0.88174	0.0:1.0:0.0:0.0	.	81;93	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	E	93	.	ENSP00000261749:Q93E	Q	+	1	0	ZFAND6	78202110	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.325000	0.52030	2.601000	0.87937	0.650000	0.86243	CAG		0.343	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		10	48	0	0	0	1	0	10	48				
DSCAML1	57453	broad.mit.edu	37	11	117395727	117395727	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:117395727C>G	ENST00000321322.6	-	5	911	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	244	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGGGCAGCTCCACGGTGTGG	0.687																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(910-912)Gag>Cag		Down syndrome cell adhesion molecule like 1							18.0	17.0	18.0					11																	117395727		2198	4291	6489	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117395727C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.910G>C	11.37:g.117395727C>G	ENSP00000315465:p.Glu304Gln					DSCAML1_ENST00000527706.1_Intron	p.E304Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	5	911	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	244			Ig-like C2-type 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.910G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569769	0.86439	.	.	ENSG00000177103	ENST00000321322;ENST00000446508	T	0.27890	1.64	4.94	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41534	0.1163	N	0.21508	0.67	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	T	0.17137	-1.0379	8	.	.	.	.	18.3667	0.90392	0.0:1.0:0.0:0.0	.	244	Q8TD84	DSCL1_HUMAN	Q	304;11	ENSP00000315465:E304Q	.	E	-	1	0	DSCAML1	116900937	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.595000	0.82710	2.589000	0.87451	0.555000	0.69702	GAG		0.687	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	17	0	0	0	1	0	5	17				
SLC10A1	6554	broad.mit.edu	37	14	70253015	70253015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:70253015C>T	ENST00000216540.4	-	2	499	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	122					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	AGCAGGTGGTCATCACAATGC	0.527																																						ENST00000216540.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14						c.(364-366)atG>atA		solute carrier family 10 (sodium/bile acid cotransporter), member 1							121.0	104.0	110.0					14																	70253015		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70253015C>T	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.366G>A	14.37:g.70253015C>T	ENSP00000216540:p.Met122Ile						p.M122I	NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	499	-			122					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.366G>A	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956124	0.92726	.	.	ENSG00000100652	ENST00000216540	T	0.14266	2.52	4.81	4.81	0.61882	.	0.083122	0.85682	D	0.000000	T	0.35740	0.0942	M	0.83312	2.635	0.80722	D	1	D	0.53151	0.958	P	0.57244	0.816	T	0.09640	-1.0665	10	0.27082	T	0.32	-17.7392	18.0229	0.89260	0.0:1.0:0.0:0.0	.	122	Q14973	NTCP_HUMAN	I	122	ENSP00000216540:M122I	ENSP00000216540:M122I	M	-	3	0	SLC10A1	69322768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.404000	0.66344	2.658000	0.90341	0.561000	0.74099	ATG		0.527	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			18	56	0	0	0	1	0	18	56				
SLX4IP	128710	broad.mit.edu	37	20	10603962	10603962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:10603962G>A	ENST00000334534.5	+	8	1342	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	388																	CACAAACACTGAAAGATTATC	0.433																																						ENST00000334534.5																			0											c.(1162-1164)Gaa>Aaa		SLX4 interacting protein							47.0	50.0	49.0					20																	10603962		2203	4300	6503	SO:0001583	missense	128710							g.chr20:10603962G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1162G>A	20.37:g.10603962G>A	ENSP00000335557:p.Glu388Lys						p.E388K	NM_001009608.1	NP_001009608.1					8	1342	+								Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.1162G>A	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.033041	0.35893	.	.	ENSG00000149346	ENST00000334534	T	0.57436	0.4	5.36	3.43	0.39272	.	0.522762	0.20644	N	0.088356	T	0.45617	0.1351	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44159	-0.9346	10	0.62326	D	0.03	-1.9925	8.5531	0.33465	0.2354:0.0:0.7646:0.0	.	388	Q5VYV7	CT094_HUMAN	K	388	ENSP00000335557:E388K	ENSP00000335557:E388K	E	+	1	0	C20orf94	10551962	0.213000	0.23551	0.029000	0.17559	0.767000	0.43475	0.444000	0.21661	0.760000	0.33108	0.650000	0.86243	GAA		0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		11	49	0	0	0	1	0	11	49				
INTS4	92105	broad.mit.edu	37	11	77602820	77602820	+	Silent	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:77602820G>T	ENST00000534064.1	-	20	2389	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Silent_p.P160P|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	785					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCATGAGTCGGGGCATAAGGT	0.502																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(2353-2355)ccC>ccA		integrator complex subunit 4							16.0	20.0	18.0					11																	77602820		2181	4263	6444	SO:0001819	synonymous_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77602820G>T	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2355C>A	11.37:g.77602820G>T						AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.P160P|AAMDC_ENST00000527134.1_Intron	p.P785P	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		20	2389	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		785					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	c.2355C>A	CCDS31644.1																																																																																				0.502	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		14	62	1	0	1.01871e-10	1	1.06662e-10	14	62				
LHX9	56956	broad.mit.edu	37	1	197889215	197889215	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197889215G>A	ENST00000367387.4	+	2	713	c.288G>A	c.(286-288)ctG>ctA	p.L96L	LHX9_ENST00000561173.1_Silent_p.L102L|LHX9_ENST00000337020.2_Silent_p.L96L|LHX9_ENST00000367390.3_Silent_p.L87L|LHX9_ENST00000367391.1_Silent_p.L87L	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	96	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGATGCCTGAAGTGCTGTG	0.577																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(259-261)ctG>ctA		LIM homeobox 9							218.0	207.0	211.0					1																	197889215		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889215G>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.288G>A	1.37:g.197889215G>A						LHX9_ENST00000337020.2_Silent_p.L96L|LHX9_ENST00000561173.1_Silent_p.L102L|LHX9_ENST00000367391.1_Silent_p.L87L|LHX9_ENST00000367387.4_Silent_p.L96L	p.L87L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			3	288	+			96			LIM zinc-binding 1.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.261G>A	CCDS1393.1																																																																																				0.577	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		68	280	0	0	0	1	0	68	280				
COL4A3BP	10087	broad.mit.edu	37	5	74677016	74677016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:74677016C>A	ENST00000405807.4	-	16	2049	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.R671L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R517L|COL4A3BP_ENST00000508692.1_5'UTR	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	543	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACGGACACATCGGTTGTTTAG	0.383																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(2011-2013)cGa>cTa		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							145.0	132.0	136.0					5																	74677016		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74677016C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1628G>T	5.37:g.74677016C>A	ENSP00000383996:p.Arg543Leu					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R543L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R517L|COL4A3BP_ENST00000508692.1_5'UTR	p.R671L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2305	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	543					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.2012G>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854455	0.71719	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	D;D;D	0.83914	-1.78;-1.78;-1.78	5.91	5.91	0.95273	Lipid-binding START (3);START-like domain (1);	0.064020	0.64402	D	0.000005	T	0.79275	0.4418	L	0.50333	1.59	0.58432	D	0.999997	P;P;P	0.41673	0.618;0.724;0.759	B;B;B	0.32211	0.133;0.142;0.119	T	0.81726	-0.0801	10	0.66056	D	0.02	-29.0422	20.3058	0.98631	0.0:1.0:0.0:0.0	.	543;671;517	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	148;543;671;517	ENSP00000383996:R543L;ENSP00000369862:R671L;ENSP00000261415:R517L	ENSP00000261415:R517L	R	-	2	0	COL4A3BP	74712772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.759000	0.85235	2.789000	0.95967	0.643000	0.83706	CGA		0.383	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		15	87	1	0	0.000219431	1	0.000223495	15	87				
HLA-B	3106	broad.mit.edu	37	6	31322897	31322897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31322897C>G	ENST00000412585.2	-	5	1027	c.999G>C	c.(997-999)agG>agC	p.R333S		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	333					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AACTCTTCCTCCTACACATCA	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(997-999)agG>agC		major histocompatibility complex, class I, B							101.0	101.0	101.0					6																	31322897		1511	2709	4220	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31322897C>G	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.999G>C	6.37:g.31322897C>G	ENSP00000399168:p.Arg333Ser						p.R333S	NM_005514.6	NP_005505.2					5	1027	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.999G>C	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	9.997	1.232487	0.22626	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00672	5.89	3.73	1.8	0.24995	.	0.398336	0.19084	U	0.123155	T	0.02083	0.0065	M	0.92970	3.365	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.30822	-0.9965	10	0.87932	D	0	.	7.0389	0.25008	0.0:0.7538:0.0:0.2462	.	333	P01889	1B07_HUMAN	S	333;212	ENSP00000399168:R333S	ENSP00000399168:R333S	R	-	3	2	HLA-B	31430876	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.272000	0.18644	0.654000	0.30846	0.448000	0.29417	AGG		0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		20	118	0	0	0	1	0	20	118				
ALPK2	115701	broad.mit.edu	37	18	56247486	56247486	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56247486G>C	ENST00000361673.3	-	4	735	c.522C>G	c.(520-522)ctC>ctG	p.L174L	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	174						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCAATGACTGGAGGGAGAGTG	0.478																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(520-522)ctC>ctG		alpha-kinase 2							188.0	192.0	190.0					18																	56247486		2112	4245	6357	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247486G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.522C>G	18.37:g.56247486G>C							p.L174L	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	735	-			174					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.522C>G	CCDS11966.2																																																																																				0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		45	163	0	0	0	1	0	45	163				
E2F4	1874	broad.mit.edu	37	16	67235706	67235706	+	IGR	SNP	C	C	T	rs200639831		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67235706C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.S380L|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Missense_Mutation_p.S363L|ELMO3_ENST00000477898.1_Missense_Mutation_p.S214L	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGGAGTCCTCGGGTGCCGGG	0.647																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(1138-1140)tCg>tTg		engulfment and cell motility 3							48.0	58.0	55.0					16																	67235706		2050	4196	6246	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235706C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235706C>T						ELMO3_ENST00000360833.1_Missense_Mutation_p.S363L|ELMO3_ENST00000477898.1_Missense_Mutation_p.S214L	p.S380L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	11	1196	+		Ovarian(137;0.0563)	327			ELMO.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1139C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	6.747	0.506721	0.12883	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15487	2.42;2.42	5.55	-5.2	0.02823	Engulfment/cell motility, ELMO (2);	1.819120	0.02849	N	0.128936	T	0.09158	0.0226	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.32241	-0.9914	10	0.24483	T	0.36	1.492	8.8319	0.35089	0.1418:0.5748:0.0:0.2833	.	327;363;380	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	L	363;380	ENSP00000354077:S363L;ENSP00000377566:S380L	ENSP00000354077:S363L	S	+	2	0	ELMO3	65793207	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.919000	0.04017	-0.435000	0.07264	-0.459000	0.05422	TCG		0.647	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	56	0	0	0	1	0	14	56				
EIF2B5	8893	broad.mit.edu	37	3	183859730	183859730	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:183859730G>C	ENST00000273783.3	+	8	1296	c.1174G>C	c.(1174-1176)Gac>Cac	p.D392H	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D392H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	392					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CGTGGTGCTGGACCAGACCTA	0.562																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1174-1176)Gac>Cac		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							136.0	120.0	125.0					3																	183859730		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183859730G>C	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1174G>C	3.37:g.183859730G>C	ENSP00000273783:p.Asp392His					EIF2B5_ENST00000444495.1_Missense_Mutation_p.D392H	p.D392H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1296	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		392					Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.1174G>C	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	19.92	3.916106	0.73098	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.96651	-4.08;-4.08	5.55	5.55	0.83447	Trimeric LpxA-like (1);	0.100996	0.64402	D	0.000003	D	0.94974	0.8374	L	0.39633	1.23	0.80722	D	1	B;P	0.51057	0.077;0.941	B;P	0.47206	0.017;0.541	D	0.94365	0.7591	10	0.38643	T	0.18	.	17.6957	0.88281	0.0:0.0:1.0:0.0	.	392;392	E9PC74;Q13144	.;EI2BE_HUMAN	H	392;392;148	ENSP00000273783:D392H;ENSP00000409142:D392H	ENSP00000273783:D392H	D	+	1	0	EIF2B5	185342424	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.056000	0.57448	2.630000	0.89119	0.561000	0.74099	GAC		0.562	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			12	70	0	0	0	1	0	12	70				
CYB5D2	124936	broad.mit.edu	37	17	4060257	4060257	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4060257C>T	ENST00000301391.3	+	4	1176	c.676C>T	c.(676-678)Cct>Tct	p.P226S	CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Missense_Mutation_p.P114S|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	226					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CACCGGCCCCCCTAGTGGCCA	0.607											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301391.3																			0				breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						c.(676-678)Cct>Tct		cytochrome b5 domain containing 2							62.0	56.0	58.0					17																	4060257		2203	4300	6503	SO:0001583	missense	124936				nervous system development	extracellular region	heme binding	g.chr17:4060257C>T	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.676C>T	17.37:g.4060257C>T	ENSP00000301391:p.Pro226Ser		OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	615	CYB5D2_ENST00000575251.1_Missense_Mutation_p.P114S|CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575411.2_3'UTR	p.P226S	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN			4	1176	+			226					B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	c.676C>T	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779247	0.49891	.	.	ENSG00000167740	ENST00000301391	T	0.76709	-1.04	5.09	5.09	0.68999	.	0.268185	0.37348	N	0.002133	T	0.70011	0.3175	L	0.43646	1.37	0.58432	D	0.999999	B	0.31077	0.307	B	0.20767	0.031	T	0.68678	-0.5345	10	0.37606	T	0.19	-8.6437	17.2209	0.86957	0.0:1.0:0.0:0.0	.	226	Q8WUJ1	NEUFC_HUMAN	S	226	ENSP00000301391:P226S	ENSP00000301391:P226S	P	+	1	0	CYB5D2	4007006	0.933000	0.31639	0.969000	0.41365	0.750000	0.42670	3.613000	0.54152	2.650000	0.89964	0.561000	0.74099	CCT		0.607	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		13	43	0	0	0	1	0	13	43				
TRMT1L	81627	broad.mit.edu	37	1	185114665	185114665	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:185114665G>A	ENST00000367506.5	-	5	829	c.561C>T	c.(559-561)atC>atT	p.I187I	TRMT1L_ENST00000367504.3_Silent_p.I31I	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	187					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGAACAAATGATACAATGAT	0.338																																						ENST00000367504.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(91-93)atC>atT		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							174.0	161.0	165.0					1																	185114665		2202	4300	6502	SO:0001819	synonymous_variant	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185114665G>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.561C>T	1.37:g.185114665G>A						TRMT1L_ENST00000367506.5_Silent_p.I187I	p.I31I			Q7Z2T5	TRM1L_HUMAN			5	832	-			187					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Silent	SNP	ENST00000367506.5	37	c.93C>T	CCDS1366.1																																																																																				0.338	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		6	64	0	0	0	1	0	6	64				
ZAP70	7535	broad.mit.edu	37	2	98354270	98354270	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:98354270C>T	ENST00000264972.5	+	12	1748	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	ZAP70_ENST00000451498.2_Silent_p.I204I|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.I385I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I511I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCGAATGCATCAACTTCCGCA	0.637																																						ENST00000264972.5																			1	Substitution - coding silent(1)	p.I511I(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1531-1533)atC>atT		zeta-chain (TCR) associated protein kinase 70kDa							121.0	130.0	127.0					2																	98354270		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354270C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1533C>T	2.37:g.98354270C>T						ZAP70_ENST00000451498.2_Silent_p.I204I|ZAP70_ENST00000442208.1_Silent_p.I385I|ZAP70_ENST00000463643.1_3'UTR	p.I511I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			12	1748	+			511			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1533C>T	CCDS33254.1																																																																																				0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			44	205	0	0	0	1	0	44	205				
GRID1	2894	broad.mit.edu	37	10	87484168	87484168	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:87484168G>A	ENST00000327946.7	-	11	1884	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	GRID1_ENST00000536331.1_Missense_Mutation_p.S171L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	600					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGCAGAAGCTGACGGCCTGGG	0.547										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1798-1800)tCa>tTa		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						51.0	50.0	50.0					10																	87484168		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87484168G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1799C>T	10.37:g.87484168G>A	ENSP00000330148:p.Ser600Leu	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.S171L	p.S600L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			11	1884	-			600					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1799C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600842	0.28534	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.53857	0.6;0.6	5.61	5.61	0.85477	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.050648	0.85682	D	0.000000	T	0.51466	0.1676	L	0.39397	1.21	0.51012	D	0.999902	B	0.27013	0.166	B	0.34093	0.175	T	0.50110	-0.8866	10	0.54805	T	0.06	.	18.5988	0.91240	0.0:0.0:1.0:0.0	.	600	Q9ULK0	GRID1_HUMAN	L	600;171	ENSP00000330148:S600L;ENSP00000444455:S171L	ENSP00000330148:S600L	S	-	2	0	GRID1	87474148	0.999000	0.42202	0.010000	0.14722	0.044000	0.14063	4.901000	0.63259	2.624000	0.88883	0.650000	0.86243	TCA		0.547	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		9	52	0	0	0	1	0	9	52				
SNX18	112574	broad.mit.edu	37	5	53815204	53815204	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:53815204C>T	ENST00000326277.3	+	1	1612	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SNX18_ENST00000343017.6_Silent_p.L474L|SNX18_ENST00000381410.4_Silent_p.L474L	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	474	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCCGCGGCCTCAGCCAGGCCT	0.627																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1420-1422)ctC>ctT		sorting nexin 18							42.0	42.0	42.0					5																	53815204		2203	4300	6503	SO:0001819	synonymous_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815204C>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1422C>T	5.37:g.53815204C>T						SNX18_ENST00000326277.3_Silent_p.L474L|SNX18_ENST00000381410.4_Silent_p.L474L	p.L474L	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1616	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	474			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	c.1422C>T	CCDS3962.1																																																																																				0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			11	52	0	0	0	1	0	11	52				
KCNH8	131096	broad.mit.edu	37	3	19575324	19575324	+	Silent	SNP	G	G	A	rs375400626		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:19575324G>A	ENST00000328405.2	+	16	3323	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1019	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATTCTACGTTGACGCCTC	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3055-3057)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 8		G		1,4405	2.1+/-5.4	0,1,2202	245.0	237.0	240.0		3057	-11.4	0.0	3		240	0,8600		0,0,4300	no	coding-synonymous	KCNH8	NM_144633.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1019/1108	19575324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19575324G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3057G>A	3.37:g.19575324G>A							p.T1019T	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3323	+			1019			Ser-rich.		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.3057G>A	CCDS2632.1																																																																																				0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		35	180	0	0	0	1	0	35	180				
PGS1	9489	broad.mit.edu	37	17	76420119	76420119	+	Intron	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76420119C>T	ENST00000262764.6	+	10	1707				DNAH17_ENST00000389840.5_Silent_p.K4442K|PGS1_ENST00000588281.1_Intron|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000329897.7_Intron|DNAH17_ENST00000585328.1_Silent_p.K4414K	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CATAGATGTTCTTGGTCTCCA	0.552																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13324-13326)aaG>aaA		dynein, axonemal, heavy chain 17							130.0	125.0	127.0					17																	76420119		2203	4300	6503	SO:0001627	intron_variant	8632							g.chr17:76420119C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1669-23C>T	17.37:g.76420119C>T						PGS1_ENST00000262764.6_Intron|DNAH17_ENST00000585328.1_Silent_p.K4414K|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron	p.K4442K					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		81	13450	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	c.13326G>A	CCDS42391.1																																																																																				0.552	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		29	126	0	0	0	1	0	29	126				
TRIM14	9830	broad.mit.edu	37	9	100850020	100850020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100850020C>T	ENST00000341469.2	-	6	1070	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	TRIM14_ENST00000538344.1_Missense_Mutation_p.R135H|TRIM14_ENST00000375098.3_Missense_Mutation_p.R354H|TRIM14_ENST00000342043.3_Missense_Mutation_p.R354H|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	354	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCAGCCCAggcgggcggcggc	0.756																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1060-1062)cGc>cAc		tripartite motif containing 14							6.0	7.0	7.0					9																	100850020		2064	4006	6070	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100850020C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.1061G>A	9.37:g.100850020C>T	ENSP00000344208:p.Arg354His					TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.R135H|TRIM14_ENST00000375098.3_Missense_Mutation_p.R354H|TRIM14_ENST00000342043.3_Missense_Mutation_p.R354H	p.R354H	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			6	1070	-		Acute lymphoblastic leukemia(62;0.0559)	354			B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.1061G>A	CCDS6734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.145931|4.145931	0.77888|0.77888	.|.	.|.	ENSG00000106785|ENSG00000106785	ENST00000311688|ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	.|T;T;T;T	.|0.61742	.|0.08;0.08;0.08;0.08	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.70631|0.70631	0.3246|0.3246	M|M	0.62016|0.62016	1.91|1.91	0.40376|0.40376	D|D	0.979395|0.979395	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;1.0	T|T	0.67166|0.67166	-0.5739|-0.5739	6|10	0.87932|0.15499	D|T	0|0.54	.|.	15.3009|15.3009	0.73949|0.73949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|135;132;354;354	.|B7ZAZ9;B4E0G2;Q548W9;Q14142	.|.;.;.;TRI14_HUMAN	T|H	170|354;354;354;354;135	.|ENSP00000364239:R354H;ENSP00000344208:R354H;ENSP00000343990:R354H;ENSP00000445355:R135H	ENSP00000307909:A170T|ENSP00000344208:R354H	A|R	-|-	1|2	0|0	TRIM14|TRIM14	99889841|99889841	0.521000|0.521000	0.26258|0.26258	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	2.021000|2.021000	0.41020|0.41020	2.191000|2.191000	0.70037|0.70037	0.305000|0.305000	0.20034|0.20034	GCC|CGC		0.756	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		4	19	0	0	0	1	0	4	19				
RAB43	339122	broad.mit.edu	37	3	128840276	128840276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:128840276G>C	ENST00000315150.5	-	1	357	c.57C>G	c.(55-57)ttC>ttG	p.F19L	RAB43_ENST00000393305.1_Missense_Mutation_p.F19L|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Missense_Mutation_p.F19L|RP11-434H6.6_ENST00000608909.1_RNA|RAB43_ENST00000393304.1_Missense_Mutation_p.F19L|RAB43_ENST00000393308.1_Missense_Mutation_p.F19L|RAB43_ENST00000476465.1_Missense_Mutation_p.F19L	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	19					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCAGCTTGAACAGGAAAT	0.692																																						ENST00000315150.5																			0				kidney(2)|liver(1)|lung(2)|skin(1)	6						c.(55-57)ttC>ttG		RAB43, member RAS oncogene family							23.0	23.0	23.0					3																	128840276		2203	4300	6503	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128840276G>C	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.57C>G	3.37:g.128840276G>C	ENSP00000319781:p.Phe19Leu					RAB43_ENST00000393308.1_Missense_Mutation_p.F19L|RAB43_ENST00000393304.1_Missense_Mutation_p.F19L|RAB43_ENST00000476465.1_Missense_Mutation_p.F19L|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Missense_Mutation_p.F19L|RAB43_ENST00000393305.1_Missense_Mutation_p.F19L	p.F19L	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN			1	357	-			19					A8K4P9|E9PBQ0	Missense_Mutation	SNP	ENST00000315150.5	37	c.57C>G	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249075	0.59103	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305;ENST00000476465;ENST00000457077	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.62	3.74	0.42951	Small GTP-binding protein domain (1);	.	.	.	.	T	0.80874	0.4707	L	0.27053	0.805	0.54753	D	0.999981	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.984	T	0.79964	-0.1581	9	0.72032	D	0.01	.	6.9134	0.24347	0.2122:0.0:0.7878:0.0	.	19;19	E9PBQ0;Q86YS6	.;RAB43_HUMAN	L	19	ENSP00000319781:F19L;ENSP00000376981:F19L;ENSP00000376985:F19L;ENSP00000376984:F19L;ENSP00000376982:F19L;ENSP00000427632:F19L;ENSP00000390782:F19L	ENSP00000319781:F19L	F	-	3	2	RAB43	130322966	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.387000	0.34430	0.925000	0.37094	0.467000	0.42956	TTC		0.692	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		3	30	0	0	0	1	0	3	30				
PIPSL	266971	broad.mit.edu	37	10	95719898	95719898	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:95719898C>T	ENST00000480546.1	-	0	1399					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGAGCCTGCTCGCTGAGAGAA	0.502																																						ENST00000480546.1																			0																																																			266971							g.chr10:95719898C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719898C>T								NR_002319.2						0	1399	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.502	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		15	39	0	0	0	1	0	15	39				
MICAL1	64780	broad.mit.edu	37	6	109771177	109771177	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:109771177C>G	ENST00000358807.3	-	9	1614	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.E349Q|MICAL1_ENST00000368952.4_Missense_Mutation_p.E454Q	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	435	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTTACCGCTCAGCCAACACC	0.607																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1360-1362)Gag>Cag		microtubule associated monooxygenase, calponin and LIM domain containing 1							229.0	222.0	224.0					6																	109771177		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109771177C>G	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1303G>C	6.37:g.109771177C>G	ENSP00000351664:p.Glu435Gln					MICAL1_ENST00000358577.3_Missense_Mutation_p.E349Q|MICAL1_ENST00000358807.3_Missense_Mutation_p.E435Q	p.E454Q			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	9	1650	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	435					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1360G>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175255	0.38413	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577	T;T;T	0.62639	0.01;0.01;0.01	4.47	4.47	0.54385	Calponin homology domain (1);	0.131571	0.50627	D	0.000120	T	0.68467	0.3004	L	0.52011	1.625	0.47511	D	0.999446	P;P;D	0.89917	0.57;0.867;1.0	B;P;D	0.83275	0.253;0.528;0.996	T	0.71170	-0.4671	10	0.62326	D	0.03	.	15.0352	0.71741	0.0:1.0:0.0:0.0	.	454;349;435	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	435;454;349	ENSP00000351664:E435Q;ENSP00000357948:E454Q;ENSP00000351385:E349Q	ENSP00000351385:E349Q	E	-	1	0	MICAL1	109877870	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	7.495000	0.81514	2.474000	0.83562	0.650000	0.86243	GAG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		58	338	0	0	0	1	0	58	338				
AK5	26289	broad.mit.edu	37	1	77883349	77883349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77883349G>A	ENST00000354567.2	+	8	1271	c.1008G>A	c.(1006-1008)atG>atA	p.M336I	AK5_ENST00000344720.5_Missense_Mutation_p.M310I|RNU7-8P_ENST00000515958.1_RNA	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	336					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCCTTCGATGATATTGGACA	0.333																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(928-930)atG>atA		adenylate kinase 5							116.0	104.0	108.0					1																	77883349		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77883349G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1008G>A	1.37:g.77883349G>A	ENSP00000346577:p.Met336Ile					AK5_ENST00000354567.2_Missense_Mutation_p.M336I	p.M310I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			8	1956	+			336					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.930G>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147714	0.21288	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.70399	-0.48;-0.48	4.99	4.08	0.47627	.	0.069851	0.64402	D	0.000013	T	0.32823	0.0842	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	10	0.30078	T	0.28	-2.0642	5.9584	0.19286	0.1728:0.1592:0.668:0.0	.	336	Q9Y6K8	KAD5_HUMAN	I	336;310	ENSP00000346577:M336I;ENSP00000341430:M310I	ENSP00000341430:M310I	M	+	3	0	AK5	77655937	1.000000	0.71417	0.994000	0.49952	0.557000	0.35523	1.948000	0.40303	1.432000	0.47375	-0.136000	0.14681	ATG		0.333	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		6	29	0	0	0	1	0	6	29				
ZBTB9	221504	broad.mit.edu	37	6	33423398	33423398	+	Missense_Mutation	SNP	C	C	T	rs372690660		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33423398C>T	ENST00000395064.2	+	2	789	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATTCGCTCTTCGCCTTTCCAG	0.542																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(520-522)tCg>tTg		zinc finger and BTB domain containing 9							89.0	95.0	93.0					6																	33423398		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423398C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.521C>T	6.37:g.33423398C>T	ENSP00000378503:p.Ser174Leu						p.S174L	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	789	+			174					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.521C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773140	0.49680	.	.	ENSG00000213588	ENST00000395064	T	0.06933	3.24	4.61	4.61	0.57282	.	0.835057	0.09991	U	0.729722	T	0.02533	0.0077	L	0.29908	0.895	0.39575	D	0.969335	P	0.36438	0.553	B	0.23018	0.043	T	0.50056	-0.8872	10	0.31617	T	0.26	.	12.8092	0.57629	0.0:1.0:0.0:0.0	.	174	Q96C00	ZBTB9_HUMAN	L	174	ENSP00000378503:S174L	ENSP00000378503:S174L	S	+	2	0	ZBTB9	33531376	0.070000	0.21116	1.000000	0.80357	0.968000	0.65278	2.214000	0.42853	2.405000	0.81733	0.563000	0.77884	TCG		0.542	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		27	130	0	0	0	1	0	27	130				
FAN1	22909	broad.mit.edu	37	15	31202838	31202838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:31202838C>T	ENST00000362065.4	+	4	1688	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	FAN1_ENST00000565466.1_Missense_Mutation_p.S466F|FAN1_ENST00000561594.1_Missense_Mutation_p.S466F|FAN1_ENST00000561607.1_Missense_Mutation_p.S466F	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	466					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAAGAACTCTCTGAAGTGCTT	0.363								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1396-1398)tCt>tTt	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							60.0	61.0	61.0					15																	31202838		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202838C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1397C>T	15.37:g.31202838C>T	ENSP00000354497:p.Ser466Phe					FAN1_ENST00000565466.1_Missense_Mutation_p.S466F|FAN1_ENST00000561594.1_Missense_Mutation_p.S466F|FAN1_ENST00000561607.1_Missense_Mutation_p.S466F	p.S466F	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1688	+			466					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1397C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308710	0.60305	.	.	ENSG00000198690	ENST00000362065	T	0.49139	0.79	5.49	5.49	0.81192	.	0.613435	0.17346	N	0.177578	T	0.66528	0.2798	M	0.70275	2.135	0.25990	N	0.982263	P;P;D	0.67145	0.943;0.902;0.996	P;B;D	0.67548	0.547;0.332;0.952	T	0.61078	-0.7135	10	0.59425	D	0.04	-8.0558	14.3035	0.66371	0.0:0.8404:0.1596:0.0	.	466;466;466	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	F	466	ENSP00000354497:S466F	ENSP00000354497:S466F	S	+	2	0	FAN1	28990130	0.553000	0.26513	1.000000	0.80357	0.995000	0.86356	1.935000	0.40173	2.583000	0.87209	0.557000	0.71058	TCT		0.363	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		11	74	0	0	0	1	0	11	74				
LRRC2	79442	broad.mit.edu	37	3	46574374	46574374	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:46574374G>C	ENST00000395905.3	-	5	908	c.516C>G	c.(514-516)ctC>ctG	p.L172L	LRRC2_ENST00000296144.3_Silent_p.L172L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	172										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AACCCACATTGAGTTCTTTCA	0.363																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(514-516)ctC>ctG		leucine rich repeat containing 2							94.0	94.0	94.0					3																	46574374		2203	4300	6503	SO:0001819	synonymous_variant	79442							g.chr3:46574374G>C	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.516C>G	3.37:g.46574374G>C						LRRC2_ENST00000296144.3_Silent_p.L172L	p.L172L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	5	908	-		Ovarian(412;0.0563)	172					B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	c.516C>G	CCDS2741.1																																																																																				0.363	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			18	72	0	0	0	1	0	18	72				
SNRNP35	11066	broad.mit.edu	37	12	123950359	123950359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:123950359C>T	ENST00000526639.2	+	2	851	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SNRNP35_ENST00000350887.5_Missense_Mutation_p.S91L|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.S96L	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	91	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACAGGTTTTTCAAAGGGCTAC	0.498																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(271-273)tCa>tTa		small nuclear ribonucleoprotein 35kDa (U11/U12)							71.0	69.0	69.0					12																	123950359		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950359C>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.272C>T	12.37:g.123950359C>T	ENSP00000432595:p.Ser91Leu					SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.S91L|SNRNP35_ENST00000412157.2_Missense_Mutation_p.S96L	p.S91L	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	851	+			91			RRM.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.272C>T	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279644	0.95489	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.78924	-1.22;-1.22;-1.22	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91600	0.7346	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93233	0.6619	10	0.72032	D	0.01	-14.9121	19.4858	0.95028	0.0:1.0:0.0:0.0	.	96;91	Q16560-2;Q16560	.;U1SBP_HUMAN	L	91;96;91	ENSP00000432595:S91L;ENSP00000403310:S96L;ENSP00000340774:S91L	ENSP00000340774:S91L	S	+	2	0	SNRNP35	122516312	1.000000	0.71417	0.973000	0.42090	0.947000	0.59692	7.446000	0.80609	2.609000	0.88269	0.555000	0.69702	TCA		0.498	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		17	66	0	0	0	1	0	17	66				
LILRA2	11027	broad.mit.edu	37	19	55087566	55087566	+	Silent	SNP	C	C	T	rs199807216		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:55087566C>T	ENST00000251377.3	+	7	1378	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.L403L|LILRA2_ENST00000391738.3_Silent_p.L415L|LILRA2_ENST00000251376.3_Silent_p.L415L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	415					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCTGGAGCTCGTGGTCTCAG	0.612																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(1243-1245)ctC>ctT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							82.0	76.0	78.0					19																	55087566		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55087566C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1245C>T	19.37:g.55087566C>T						LILRA2_ENST00000391738.3_Silent_p.L415L|LILRA2_ENST00000391737.1_Silent_p.L403L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L415L	p.L415L						GBM - Glioblastoma multiforme(193;0.0963)	7	1378	+								O75020	Silent	SNP	ENST00000251377.3	37	c.1245C>T	CCDS46179.1																																																																																				0.612	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			9	132	0	0	0	1	0	9	132				
IFT172	26160	broad.mit.edu	37	2	27702428	27702428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:27702428C>T	ENST00000260570.3	-	10	1056	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	IFT172_ENST00000416524.2_Missense_Mutation_p.R297Q|IFT172_ENST00000359466.6_Missense_Mutation_p.R318Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	318					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AATACTCCTTCGGAGGCAGCA	0.498																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(952-954)cGa>cAa		intraflagellar transport 172 homolog (Chlamydomonas)							160.0	138.0	146.0					2																	27702428		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27702428C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.953G>A	2.37:g.27702428C>T	ENSP00000260570:p.Arg318Gln					IFT172_ENST00000416524.2_Missense_Mutation_p.R297Q|IFT172_ENST00000359466.6_Missense_Mutation_p.R318Q	p.R318Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			10	1056	-	Acute lymphoblastic leukemia(172;0.155)		318					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.953G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	36	5.838832	0.97009	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T	0.48201	0.82	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;P;P;P	0.64687	0.928;0.888;0.88;0.888	T	0.73319	-0.4020	10	0.46703	T	0.11	-5.2901	18.2545	0.90015	0.0:1.0:0.0:0.0	.	318;318;318;318	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	Q	318;318;297	ENSP00000260570:R318Q	ENSP00000260570:R318Q	R	-	2	0	IFT172	27555932	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.646000	0.67916	2.647000	0.89833	0.655000	0.94253	CGA		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		11	26	0	0	0	1	0	11	26				
TRMT61A	115708	broad.mit.edu	37	14	104001083	104001083	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104001083C>G	ENST00000389749.4	+	4	902	c.795C>G	c.(793-795)ttC>ttG	p.F265L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	265						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CCAGCCCCTTCCGCAGCGGCA	0.706																																						ENST00000389749.4																			0				skin(1)	1						c.(793-795)ttC>ttG		tRNA methyltransferase 61 homolog A (S. cerevisiae)							10.0	15.0	13.0					14																	104001083		2086	4203	6289	SO:0001583	missense	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:104001083C>G	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.795C>G	14.37:g.104001083C>G	ENSP00000374399:p.Phe265Leu						p.F265L	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			4	902	+			265					A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	c.795C>G	CCDS41994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.954|2.954	-0.216084|-0.216084	0.06101|0.06101	.|.	.|.	ENSG00000166166|ENSG00000166166	ENST00000389749;ENST00000299201|ENST00000299202	T|.	0.40756|.	1.02|.	4.47|4.47	3.43|3.43	0.39272|0.39272	.|.	0.325163|.	0.32563|.	N|.	0.005924|.	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.29908|0.29908	0.895|0.895	0.42515|0.42515	D|D	0.992981|0.992981	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.26395|0.26395	-1.0104|-1.0104	10|5	0.09084|.	T|.	0.74|.	-46.4703|-46.4703	8.045|8.045	0.30545|0.30545	0.0:0.7655:0.0:0.2345|0.0:0.7655:0.0:0.2345	.|.	265|.	Q96FX7|.	TRM61_HUMAN|.	L|C	265|167	ENSP00000374399:F265L|.	ENSP00000299201:F265L|.	F|S	+|+	3|2	2|0	TRMT61A|TRMT61A	103070836|103070836	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.104000|0.104000	0.19210|0.19210	0.425000|0.425000	0.21346|0.21346	2.031000|2.031000	0.59945|0.59945	0.305000|0.305000	0.20034|0.20034	TTC|TCC		0.706	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		5	12	0	0	0	1	0	5	12				
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52371064G>A	ENST00000296585.5	+	23	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	919					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2755-2757)Gaa>Aaa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							69.0	72.0	71.0					5																	52371064		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52371064G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2755G>A	5.37:g.52371064G>A	ENSP00000296585:p.Glu919Lys						p.E919K	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			23	2898	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	919					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2755G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888160	0.72524	.	.	ENSG00000164171	ENST00000296585	T	0.45276	0.9	6.16	4.34	0.51931	Integrin alpha-2 (1);	0.413038	0.27764	N	0.017945	T	0.44030	0.1274	L	0.52011	1.625	0.34654	D	0.721986	P;P	0.42692	0.787;0.747	P;B	0.51516	0.672;0.441	T	0.51601	-0.8685	10	0.17832	T	0.49	.	7.5741	0.27926	0.0665:0.1217:0.6854:0.1264	.	919;919	E7ESP4;P17301	.;ITA2_HUMAN	K	919	ENSP00000296585:E919K	ENSP00000296585:E919K	E	+	1	0	ITGA2	52406821	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	3.736000	0.55052	0.884000	0.36064	0.650000	0.86243	GAA		0.348	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		11	31	0	0	0	1	0	11	31				
SDK2	54549	broad.mit.edu	37	17	71344785	71344785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:71344785C>T	ENST00000392650.3	-	44	6118	c.6118G>A	c.(6118-6120)Gag>Aag	p.E2040K	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.E2021K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2040					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGCTGCTCTCTGCAGGGATG	0.647																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6118-6120)Gag>Aag		sidekick cell adhesion molecule 2							73.0	63.0	66.0					17																	71344785		2203	4299	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71344785C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6118G>A	17.37:g.71344785C>T	ENSP00000376421:p.Glu2040Lys					SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.E2021K	p.E2040K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			44	6118	-			2040					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6118G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406858	0.96051	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61859	0.1;0.07;1.41	4.81	4.81	0.61882	.	0.060966	0.64402	D	0.000005	T	0.71264	0.3319	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.62365	0.991;0.986	P;P	0.61201	0.844;0.885	T	0.75042	-0.3457	10	0.66056	D	0.02	.	16.6635	0.85247	0.0:1.0:0.0:0.0	.	2040;2021	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	K	1664;2040;2021;1197;2040;381	ENSP00000376421:E2040K;ENSP00000373378:E2021K;ENSP00000407098:E1197K	ENSP00000324967:E2040K	E	-	1	0	SDK2	68856380	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	7.582000	0.82546	2.204000	0.70986	0.563000	0.77884	GAG		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	47	0	0	0	1	0	8	47				
SLC26A8	116369	broad.mit.edu	37	6	35987332	35987332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:35987332G>C	ENST00000490799.1	-	2	506	c.153C>G	c.(151-153)atC>atG	p.I51M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.I51M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I51M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGATGTTGATGTTCATGT	0.498																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(151-153)atC>atG		solute carrier family 26 (anion exchanger), member 8							296.0	218.0	244.0					6																	35987332		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35987332G>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.153C>G	6.37:g.35987332G>C	ENSP00000417638:p.Ile51Met					SLC26A8_ENST00000394602.2_Missense_Mutation_p.I51M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.I51M	p.I51M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			2	506	-			51						Missense_Mutation	SNP	ENST00000490799.1	37	c.153C>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057828	0.19907	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.79	-1.18	0.09617	.	0.000000	0.48767	D	0.000179	T	0.14184	0.0343	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.76494	0.991;0.999	P;D	0.66979	0.77;0.948	T	0.10154	-1.0642	10	0.46703	T	0.11	.	3.9433	0.09338	0.4807:0.0:0.3512:0.1681	.	51;51	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	M	51;51;51;137	ENSP00000417638:I51M;ENSP00000378100:I51M;ENSP00000347778:I51M;ENSP00000420488:I137M	ENSP00000347778:I51M	I	-	3	3	SLC26A8	36095310	0.056000	0.20664	0.033000	0.17914	0.003000	0.03518	0.019000	0.13444	-0.352000	0.08237	0.650000	0.86243	ATC		0.498	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			3	28	0	0	0	1	0	3	28				
OR2K2	26248	broad.mit.edu	37	9	114090189	114090189	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114090189G>A	ENST00000374428.1	-	1	611	c.612C>T	c.(610-612)caC>caT	p.H204H	OR2K2_ENST00000302681.1_Silent_p.H175H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CACACGTGAAGTGATCGATGA	0.527																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(610-612)caC>caT		olfactory receptor, family 2, subfamily K, member 2							81.0	75.0	77.0					9																	114090189		2203	4300	6503	SO:0001819	synonymous_variant	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090189G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.612C>T	9.37:g.114090189G>A						OR2K2_ENST00000302681.1_Silent_p.H175H	p.H204H			Q8NGT1	OR2K2_HUMAN			1	611	-			204					Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	ENST00000374428.1	37	c.612C>T																																																																																					0.527	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		10	47	0	0	0	1	0	10	47				
AJAP1	55966	broad.mit.edu	37	1	4834545	4834545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:4834545G>A	ENST00000378191.4	+	5	1603	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E408K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	408	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GAAATGGTTTGAAATCTCCTG	0.522																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1222-1224)Gaa>Aaa		adherens junctions associated protein 1							194.0	179.0	184.0					1																	4834545		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4834545G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1222G>A	1.37:g.4834545G>A	ENSP00000367433:p.Glu408Lys					AJAP1_ENST00000378190.3_Missense_Mutation_p.E408K	p.E408K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	5	1603	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	408			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1222G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070176	0.93950	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.61627	0.09;0.09	5.26	5.26	0.73747	.	0.103489	0.64402	D	0.000006	T	0.66645	0.2810	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.71073	-0.4698	10	0.87932	D	0	-14.4198	17.8234	0.88657	0.0:0.0:1.0:0.0	.	408	Q9UKB5	AJAP1_HUMAN	K	408	ENSP00000367432:E408K;ENSP00000367433:E408K	ENSP00000367432:E408K	E	+	1	0	AJAP1	4734405	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.124000	0.94394	2.441000	0.82636	0.591000	0.81541	GAA		0.522	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		19	76	0	0	0	1	0	19	76				
KDM5B	10765	broad.mit.edu	37	1	202698947	202698947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202698947G>A	ENST00000367265.3	-	26	5549	c.4385C>T	c.(4384-4386)tCt>tTt	p.S1462F	KDM5B_ENST00000367264.2_Missense_Mutation_p.S1498F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1462					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTTCAGCAGAACGAACTAA	0.478																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4384-4386)tCt>tTt		lysine (K)-specific demethylase 5B							225.0	208.0	214.0					1																	202698947		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698947G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4385C>T	1.37:g.202698947G>A	ENSP00000356234:p.Ser1462Phe					KDM5B_ENST00000367264.2_Missense_Mutation_p.S1498F	p.S1462F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5549	-			1462					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4385C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254281	0.39896	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.85171	-1.95;-1.76	5.32	3.38	0.38709	Zinc finger, FYVE/PHD-type (1);	0.515754	0.22087	N	0.064806	T	0.79191	0.4404	N	0.22421	0.69	0.24634	N	0.993601	P;P	0.47253	0.892;0.681	P;B	0.47251	0.542;0.169	T	0.71083	-0.4695	10	0.66056	D	0.02	-2.5033	10.2226	0.43205	0.0:0.2663:0.5869:0.1468	.	1498;1462	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	1462;1304;1498	ENSP00000356234:S1462F;ENSP00000356233:S1498F	ENSP00000356233:S1498F	S	-	2	0	KDM5B	200965570	0.251000	0.23961	0.969000	0.41365	0.963000	0.63663	1.990000	0.40717	0.561000	0.29186	-0.182000	0.12963	TCT		0.478	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		32	127	0	0	0	1	0	32	127				
PIGW	284098	broad.mit.edu	37	17	34893953	34893953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:34893953G>A	ENST00000592983.1	+	2	1583	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	PIGW_ENST00000328396.2_Missense_Mutation_p.D335N|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	335					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATATCAAAGACTTGATAAA	0.398																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1003-1005)Gac>Aac		phosphatidylinositol glycan anchor biosynthesis, class W							97.0	87.0	90.0					17																	34893953		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893953G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1003G>A	17.37:g.34893953G>A	ENSP00000468778:p.Asp335Asn					PIGW_ENST00000328396.2_Missense_Mutation_p.D335N|MYO19_ENST00000590081.1_Intron	p.D335N			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1583	+		Breast(25;0.00957)|Ovarian(249;0.17)	335					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.1003G>A	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350755	0.61183	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	3.46	0.39613	.	0.297207	0.36167	N	0.002759	T	0.63745	0.2537	L	0.49126	1.545	0.41265	D	0.986809	D	0.57257	0.979	P	0.60236	0.871	T	0.61287	-0.7093	8	.	.	.	-9.8019	10.059	0.42263	0.0719:0.0:0.791:0.1371	.	335	Q7Z7B1	PIGW_HUMAN	N	335	.	.	D	+	1	0	PIGW	31968066	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.949000	0.63596	0.768000	0.33290	0.561000	0.74099	GAC		0.398	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		9	44	0	0	0	1	0	9	44				
BAZ2A	11176	broad.mit.edu	37	12	56994038	56994038	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:56994038C>T	ENST00000551812.1	-	24	5038	c.4845G>A	c.(4843-4845)gaG>gaA	p.E1615E	BAZ2A_ENST00000379441.3_Silent_p.E1585E|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Silent_p.E1583E|BAZ2A_ENST00000549884.1_Silent_p.E1613E	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1615					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCAGGGCCTTCTCCAGCACAA	0.577																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4747-4749)gaG>gaA		bromodomain adjacent to zinc finger domain, 2A							32.0	36.0	35.0					12																	56994038		1944	4135	6079	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56994038C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4845G>A	12.37:g.56994038C>T						BAZ2A_ENST00000551812.1_Silent_p.E1615E|BAZ2A_ENST00000549884.1_Silent_p.E1613E|BAZ2A_ENST00000379441.3_Silent_p.E1585E	p.E1583E			Q9UIF9	BAZ2A_HUMAN			25	4948	-			1615					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.4749G>A	CCDS44924.1																																																																																				0.577	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		6	21	0	0	0	1	0	6	21				
CAMTA1	23261	broad.mit.edu	37	1	7797326	7797326	+	Silent	SNP	T	T	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:7797326T>C	ENST00000303635.7	+	15	3561	c.3354T>C	c.(3352-3354)tgT>tgC	p.C1118C	CAMTA1_ENST00000439411.2_Silent_p.C1118C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGTGGGCGTGTGCCCTAGGGC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3352-3354)tgT>tgC		calmodulin binding transcription activator 1							99.0	103.0	101.0					1																	7797326		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797326T>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3354T>C	1.37:g.7797326T>C						CAMTA1_ENST00000439411.2_Silent_p.C1118C	p.C1118C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3561	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1118					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3354T>C	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	T	8.330	0.826283	0.16749	.	.	ENSG00000171735	ENST00000495233	.	.	.	5.91	-0.262	0.12958	.	.	.	.	.	T	0.58552	0.2130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55321	-0.8159	4	.	.	.	-10.2011	11.2352	0.48936	0.0:0.3688:0.0:0.6312	.	.	.	.	A	75	.	.	V	+	2	0	CAMTA1	7719913	0.986000	0.35501	0.983000	0.44433	0.894000	0.52154	0.154000	0.16343	0.134000	0.18681	0.533000	0.62120	GTG		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		29	122	0	0	0	1	0	29	122				
MED11	400569	broad.mit.edu	37	17	4638451	4638451	+	IGR	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638451G>A	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Silent_p.L237L|CXCL16_ENST00000293778.6_Silent_p.L237L|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GGGCTGCGGTGAGGATGAAGA	0.597																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(709-711)ctC>ctT		chemokine (C-X-C motif) ligand 16							59.0	52.0	54.0					17																	4638451		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638451G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638451G>A						CXCL16_ENST00000574412.1_Silent_p.L237L|CXCL16_ENST00000576153.1_5'UTR	p.L237L	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	1133	-			218					Q6NS89	Silent	SNP	ENST00000293777.5	37	c.711C>T	CCDS32533.1																																																																																				0.597	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		9	27	0	0	0	1	0	9	27				
COL11A2	1302	broad.mit.edu	37	6	33148774	33148774	+	Silent	SNP	G	G	A	rs532305958		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33148774G>A	ENST00000374708.4	-	8	1188	c.930C>T	c.(928-930)ctC>ctT	p.L310L	COL11A2_ENST00000361917.1_Silent_p.L289L|COL11A2_ENST00000374713.1_Silent_p.L349L|COL11A2_ENST00000341947.2_Silent_p.L396L|COL11A2_ENST00000374714.1_Silent_p.L370L|COL11A2_ENST00000395197.1_Silent_p.L336L|COL11A2_ENST00000357486.1_Silent_p.L375L|COL11A2_ENST00000374712.1_Silent_p.L315L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	396	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCCCTCCACGAGCATACCCT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17229	0.0		0.001	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1186-1188)ctC>ctT		collagen, type XI, alpha 2							57.0	63.0	61.0					6																	33148774		2203	4300	6503	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33148774G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.930C>T	6.37:g.33148774G>A						COL11A2_ENST00000395197.1_Silent_p.L336L|COL11A2_ENST00000374712.1_Silent_p.L315L|COL11A2_ENST00000357486.1_Silent_p.L375L|COL11A2_ENST00000361917.1_Silent_p.L289L|COL11A2_ENST00000374713.1_Silent_p.L349L|COL11A2_ENST00000374708.4_Silent_p.L310L|COL11A2_ENST00000374714.1_Silent_p.L370L	p.L396L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			10	1415	-			396			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.1188C>T	CCDS43452.1																																																																																				0.552	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			15	78	0	0	0	1	0	15	78				
POLDIP3	84271	broad.mit.edu	37	22	42998880	42998880	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998880C>T	ENST00000252115.5	-	2	450	c.346G>A	c.(346-348)Gat>Aat	p.D116N	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.D116N|POLDIP3_ENST00000339677.6_Missense_Mutation_p.D116N|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	116					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TCCCGGGCATCAGCAACCTGG	0.557																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(346-348)Gat>Aat		polymerase (DNA-directed), delta interacting protein 3							95.0	101.0	99.0					22																	42998880		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998880C>T		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.346G>A	22.37:g.42998880C>T	ENSP00000252115:p.Asp116Asn					POLDIP3_ENST00000348657.2_Missense_Mutation_p.D116N|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.D116N|POLDIP3_ENST00000451060.2_5'UTR	p.D116N	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			2	450	-			116					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.346G>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876371	0.91664	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	6.08	0.98989	.	0.046050	0.85682	D	0.000000	T	0.79776	0.4504	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.961;0.999;0.998	T	0.75563	-0.3274	9	0.37606	T	0.19	-20.7369	20.6721	0.99693	0.0:1.0:0.0:0.0	.	116;112;116;116;116	B4E0L0;Q96DI9;Q6R954;Q9BY77-2;Q9BY77	.;.;.;.;PDIP3_HUMAN	N	116	.	ENSP00000252115:D116N	D	-	1	0	POLDIP3	41328824	1.000000	0.71417	0.950000	0.38849	0.582000	0.36321	6.238000	0.72350	2.894000	0.99253	0.591000	0.81541	GAT		0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		23	155	0	0	0	1	0	23	155				
SLAIN2	57606	broad.mit.edu	37	4	48384836	48384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:48384836G>A	ENST00000264313.6	+	5	1532	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	SLAIN2_ENST00000512093.1_Missense_Mutation_p.E179K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	372					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TCGGGGAATAGAATATAGTAG	0.478																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1114-1116)Gaa>Aaa		SLAIN motif family, member 2							98.0	97.0	98.0					4																	48384836		1987	4163	6150	SO:0001583	missense	57606					centrosome		g.chr4:48384836G>A	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1114G>A	4.37:g.48384836G>A	ENSP00000264313:p.Glu372Lys					SLAIN2_ENST00000512093.1_Missense_Mutation_p.E179K	p.E372K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			5	1532	+			372					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1114G>A	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748122	0.69533	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.77	5.77	0.91146	.	0.045010	0.85682	D	0.000000	T	0.71837	0.3387	L	0.40543	1.245	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.64042	0.754;0.921	T	0.67921	-0.5545	9	0.35671	T	0.21	-12.2261	19.9915	0.97366	0.0:0.0:1.0:0.0	.	42;372	Q9H705;Q9P270	.;SLAI2_HUMAN	K	372;179	.	ENSP00000264313:E372K	E	+	1	0	SLAIN2	48079593	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	8.968000	0.93407	2.723000	0.93209	0.655000	0.94253	GAA		0.478	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		13	41	0	0	0	1	0	13	41				
LRIG2	9860	broad.mit.edu	37	1	113661879	113661879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:113661879G>A	ENST00000361127.5	+	17	2903	c.2705G>A	c.(2704-2706)tGc>tAc	p.C902Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	902					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGGTGATTTGCTCAGATTGT	0.398																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2704-2706)tGc>tAc		leucine-rich repeats and immunoglobulin-like domains 2							128.0	120.0	123.0					1																	113661879		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113661879G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2705G>A	1.37:g.113661879G>A	ENSP00000355396:p.Cys902Tyr					LRIG2_ENST00000492207.1_3'UTR	p.C902Y	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	2903	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	902					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2705G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246129	0.80024	.	.	ENSG00000198799	ENST00000361127	T	0.75589	-0.95	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	L	0.55103	1.725	0.58432	D	0.999999	P	0.46784	0.884	B	0.43155	0.41	T	0.73678	-0.3907	10	0.62326	D	0.03	.	19.1368	0.93431	0.0:0.0:1.0:0.0	.	902	O94898	LRIG2_HUMAN	Y	902	ENSP00000355396:C902Y	ENSP00000355396:C902Y	C	+	2	0	LRIG2	113463402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.157000	0.94714	2.585000	0.87301	0.655000	0.94253	TGC		0.398	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		23	103	0	0	0	1	0	23	103				
OR7G3	390883	broad.mit.edu	37	19	9237605	9237605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9237605C>T	ENST00000305444.2	-	1	21	c.22G>A	c.(22-24)Gac>Aac	p.D8N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGAGTGTCTGAGAAGTTT	0.443																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(22-24)Gac>Aac		olfactory receptor, family 7, subfamily G, member 3							58.0	61.0	60.0					19																	9237605		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237605C>T		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.22G>A	19.37:g.9237605C>T	ENSP00000302867:p.Asp8Asn						p.D8N	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	21	-			8					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.22G>A	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	9.512	1.106068	0.20632	.	.	ENSG00000170920	ENST00000305444	T	0.19394	2.15	4.11	-1.1	0.09872	.	1.086850	0.07266	U	0.868316	T	0.09069	0.0224	N	0.05414	-0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36286	-0.9754	10	0.26408	T	0.33	.	4.0754	0.09901	0.1471:0.4751:0.2878:0.09	.	8	Q8NG95	OR7G3_HUMAN	N	8	ENSP00000302867:D8N	ENSP00000302867:D8N	D	-	1	0	OR7G3	9098605	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.050000	0.01404	0.146000	0.19002	0.551000	0.68910	GAC		0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			6	31	0	0	0	1	0	6	31				
ABCC11	85320	broad.mit.edu	37	16	48247428	48247428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48247428G>A	ENST00000394747.1	-	9	1631	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ABCC11_ENST00000537808.1_Missense_Mutation_p.R428W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R428W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R428W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R428W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	428	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACTGACAGCCGAAGGAGATTC	0.547																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1282-1284)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							116.0	92.0	100.0					16																	48247428		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48247428G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1282C>T	16.37:g.48247428G>A	ENSP00000378230:p.Arg428Trp					ABCC11_ENST00000537808.1_Missense_Mutation_p.R428W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R428W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R428W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R428W	p.R428W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			9	1631	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	428			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1282C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036000	0.54896	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.25	1.91	0.25777	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.062052	0.64402	D	0.000012	D	0.94561	0.8248	M	0.73962	2.25	0.21416	N	0.999693	D;D	0.89917	1.0;1.0	D;D	0.97110	0.966;1.0	D	0.87296	0.2302	10	0.87932	D	0	-17.0475	8.99	0.36017	0.0:0.0:0.5414:0.4586	.	428;428	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	428	ENSP00000311326:R428W;ENSP00000349017:R428W;ENSP00000378231:R428W;ENSP00000378230:R428W;ENSP00000438530:R428W	ENSP00000311326:R428W	R	-	1	2	ABCC11	46804929	0.000000	0.05858	0.373000	0.26003	0.087000	0.18053	-0.296000	0.08287	0.804000	0.34136	0.655000	0.94253	CGG		0.547	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		3	32	0	0	0	1	0	3	32				
LHX3	8022	broad.mit.edu	37	9	139092511	139092511	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139092511G>C	ENST00000371748.5	-	2	264	c.168C>G	c.(166-168)ctC>ctG	p.L56L	LHX3_ENST00000371746.3_Silent_p.L61L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	56	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CGCTGCACTTGAGACACTTGC	0.612																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(181-183)ctC>ctG		LIM homeobox 3							74.0	65.0	68.0					9																	139092511		2203	4300	6503	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092511G>C	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.168C>G	9.37:g.139092511G>C						LHX3_ENST00000371748.5_Silent_p.L56L	p.L61L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	301	-		Myeloproliferative disorder(178;0.0511)	56			LIM zinc-binding 1.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.183C>G	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	2.152	-0.394310	0.04899	.	.	ENSG00000107187	ENST00000325195	.	.	.	4.65	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.4524	0.32880	0.0:0.339:0.5061:0.1549	.	.	.	.	X	60	.	ENSP00000319224:S60X	S	-	2	0	LHX3	138232332	0.833000	0.29383	0.973000	0.42090	0.041000	0.13682	-0.034000	0.12225	1.171000	0.42768	0.591000	0.81541	TCA		0.612	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			18	57	0	0	0	1	0	18	57				
CABP7	164633	broad.mit.edu	37	22	30125450	30125450	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:30125450C>T	ENST00000216144.3	+	5	881	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			ACCAGCAGATCCGCCAGACTT	0.637																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(538-540)atC>atT		calcium binding protein 7							77.0	70.0	72.0					22																	30125450		2203	4300	6503	SO:0001819	synonymous_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30125450C>T	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.540C>T	22.37:g.30125450C>T							p.I180I	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		5	881	+			180						Silent	SNP	ENST00000216144.3	37	c.540C>T	CCDS13867.1																																																																																				0.637	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		24	111	0	0	0	1	0	24	111				
ASTN1	460	broad.mit.edu	37	1	176903328	176903328	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:176903328G>C	ENST00000367654.3	-	16	2866	c.2655C>G	c.(2653-2655)gtC>gtG	p.V885V	ASTN1_ENST00000424564.2_Silent_p.V877V|ASTN1_ENST00000367657.3_Silent_p.V877V|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000361833.2_Silent_p.V877V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	885					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCGCCGCTGGACCTGCTTGT	0.502																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2653-2655)gtC>gtG		astrotactin 1							107.0	89.0	95.0					1																	176903328		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903328G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2655C>G	1.37:g.176903328G>C						ASTN1_ENST00000424564.2_Silent_p.V877V|ASTN1_ENST00000367657.3_Silent_p.V877V|ASTN1_ENST00000361833.2_Silent_p.V877V	p.V885V			O14525	ASTN1_HUMAN			16	2668	-			885					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2655C>G																																																																																					0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		16	64	0	0	0	1	0	16	64				
TNIP1	10318	broad.mit.edu	37	5	150410275	150410275	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:150410275C>G	ENST00000389378.2	-	18	2498	c.1910G>C	c.(1909-1911)tGa>tCa	p.*637S	TNIP1_ENST00000523200.1_Nonstop_Mutation_p.*573S|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.E541Q|TNIP1_ENST00000315050.7_Nonstop_Mutation_p.*637S|TNIP1_ENST00000521591.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000522226.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000521423.1_5'Flank|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000520931.1_Nonstop_Mutation_p.*584S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	0					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTGGTCTCACTGAGGCCC	0.458																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1909-1911)tGa>tCa		TNFAIP3 interacting protein 1							84.0	82.0	83.0					5																	150410275		2203	4300	6503	SO:0001578	stop_lost	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150410275C>G	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1910G>C	5.37:g.150410275C>G						TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000523200.1_Nonstop_Mutation_p.*573S|TNIP1_ENST00000315050.7_Nonstop_Mutation_p.*637S|TNIP1_ENST00000521591.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000522226.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000520931.1_Nonstop_Mutation_p.*584S|TNIP1_ENST00000524280.1_Missense_Mutation_p.E541Q	p.*637S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2498	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	0					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Nonstop_Mutation	SNP	ENST00000389378.2	37	c.1910G>C	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.174986|3.174986	0.57692|0.57692	.|.	.|.	ENSG00000145901|ENSG00000145901	ENST00000544828;ENST00000524280|ENST00000520931;ENST00000389378;ENST00000315050;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000523200	T|.	0.12255|.	2.7|.	5.44|5.44	4.52|4.52	0.55395|0.55395	.|.	.|.	.|.	.|.	.|.	T|.	0.39172|.	0.1068|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.20671|.	0.047|.	B|.	0.24701|.	0.055|.	T|.	0.19877|.	-1.0292|.	8|.	0.19147|.	T|.	0.46|.	.|.	10.6702|10.6702	0.45753|0.45753	0.1906:0.8094:0.0:0.0|0.1906:0.8094:0.0:0.0	.|.	541|.	E7EPY1|.	.|.	Q|S	498;541|584;637;637;530;599;637;637;573	ENSP00000429912:E541Q|.	ENSP00000429912:E541Q|.	E|X	-|-	1|2	0|2	TNIP1|TNIP1	150390468|150390468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	1.571000|1.571000	0.36450|0.36450	2.544000|2.544000	0.85801|0.85801	0.448000|0.448000	0.29417|0.29417	GAG|TGA		0.458	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		10	35	0	0	0	1	0	10	35				
CIITA	4261	broad.mit.edu	37	16	10992553	10992553	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:10992553G>A	ENST00000324288.8	+	4	455	c.322G>A	c.(322-324)Gac>Aac	p.D108N	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D108N	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	108	Asp/Glu-rich (acidic).|Required for acetyltransferase activity.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGTCTTCCAGGACTCCCAGCT	0.567			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(322-324)Gac>Aac		class II, major histocompatibility complex, transactivator							96.0	84.0	88.0					16																	10992553		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10992553G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.322G>A	16.37:g.10992553G>A	ENSP00000316328:p.Asp108Asn					CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D108N	p.D108N	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			4	455	+			108			Asp/Glu-rich (acidic).		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.322G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787719	0.70337	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	D;T	0.88975	-2.45;0.08	4.69	4.69	0.59074	.	0.000000	0.47852	D	0.000201	D	0.92309	0.7560	L	0.55990	1.75	0.26943	N	0.966206	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.80764	0.988;0.994;0.962;0.962;0.983;0.974	D	0.86443	0.1768	10	0.72032	D	0.01	.	13.4859	0.61366	0.0:0.0:1.0:0.0	.	108;108;108;108;108;108	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	N	108	ENSP00000316328:D108N;ENSP00000371257:D108N	ENSP00000316328:D108N	D	+	1	0	CIITA	10900054	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.519000	0.60517	2.332000	0.79248	0.655000	0.94253	GAC		0.567	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		4	27	0	0	0	1	0	4	27				
ADAMTS13	11093	broad.mit.edu	37	9	136323072	136323072	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:136323072G>A	ENST00000371929.3	+	28	4377	c.3933G>A	c.(3931-3933)gtG>gtA	p.V1311V	ADAMTS13_ENST00000485925.1_Intron|CACFD1_ENST00000291722.7_5'Flank|CACFD1_ENST00000542192.1_5'Flank|CACFD1_ENST00000316948.4_5'Flank|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.V1224V|ADAMTS13_ENST00000355699.2_Silent_p.V1255V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.V107V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1311	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAAATCGTGAGCCCCTCGC	0.607																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(3931-3933)gtG>gtA		ADAM metallopeptidase with thrombospondin type 1 motif, 13							72.0	69.0	70.0					9																	136323072		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323072G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3933G>A	9.37:g.136323072G>A						ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.V1224V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.V107V|ADAMTS13_ENST00000355699.2_Silent_p.V1255V	p.V1311V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4377	+			1311			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.3933G>A	CCDS6970.1																																																																																				0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		20	77	0	0	0	1	0	20	77				
AHNAK2	113146	broad.mit.edu	37	14	105420816	105420816	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105420816G>A	ENST00000333244.5	-	7	1091	c.972C>T	c.(970-972)ctC>ctT	p.L324L	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	324						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTGAGGTTGAGGAACTTCC	0.647																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(970-972)ctC>ctT		AHNAK nucleoprotein 2							29.0	32.0	31.0					14																	105420816		2090	4203	6293	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420816G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.972C>T	14.37:g.105420816G>A							p.L324L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1091	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	324					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.972C>T	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	30	0	0	0	1	0	9	30				
FAT4	79633	broad.mit.edu	37	4	126329861	126329861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126329861C>G	ENST00000394329.3	+	4	5845	c.5832C>G	c.(5830-5832)ttC>ttG	p.F1944L	FAT4_ENST00000335110.5_Missense_Mutation_p.F242L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1944	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCTATTTTCAGCTTGAATT	0.348																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5830-5832)ttC>ttG		FAT atypical cadherin 4							120.0	123.0	122.0					4																	126329861		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329861C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5832C>G	4.37:g.126329861C>G	ENSP00000377862:p.Phe1944Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.F242L	p.F1944L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			4	5845	+			1944			Cadherin 18.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5832C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177268	0.78564	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78707	-1.2;-1.2	5.43	3.72	0.42706	Cadherin (2);Cadherin-like (1);	0.000000	0.36338	U	0.002641	D	0.86606	0.5973	M	0.78223	2.4	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.79108	0.992;0.989	D	0.86792	0.1986	10	0.87932	D	0	.	11.5921	0.50951	0.0:0.8567:0.0:0.1433	.	242;1944	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	1944;242	ENSP00000377862:F1944L;ENSP00000335169:F242L	ENSP00000335169:F242L	F	+	3	2	FAT4	126549311	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.409000	0.44583	0.676000	0.31285	0.655000	0.94253	TTC		0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	92	0	0	0	1	0	21	92				
ABHD3	171586	broad.mit.edu	37	18	19283684	19283684	+	Missense_Mutation	SNP	C	C	T	rs200033763		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:19283684C>T	ENST00000289119.2	-	2	326	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.E63K	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	63						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGAAACTCTCACCCCCGGTC	0.547																																						ENST00000289119.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(187-189)Gag>Aag		abhydrolase domain containing 3							65.0	62.0	63.0					18																	19283684		2203	4300	6503	SO:0001583	missense	171586					integral to membrane	carboxylesterase activity	g.chr18:19283684C>T	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.187G>A	18.37:g.19283684C>T	ENSP00000289119:p.Glu63Lys					ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.E63K|ABHD3_ENST00000579875.1_5'UTR	p.E63K	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN			2	326	-			63					B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	c.187G>A	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848215	0.32699	.	.	ENSG00000158201	ENST00000289119	T	0.12147	2.71	4.68	3.8	0.43715	.	0.104321	0.64402	D	0.000004	T	0.08891	0.0220	N	0.25890	0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08868	-1.0701	10	0.06757	T	0.87	-10.9444	13.1527	0.59498	0.0:0.9214:0.0:0.0786	.	63	Q8WU67	ABHD3_HUMAN	K	63	ENSP00000289119:E63K	ENSP00000289119:E63K	E	-	1	0	ABHD3	17537682	0.993000	0.37304	0.809000	0.32408	0.174000	0.22865	2.880000	0.48530	1.093000	0.41377	0.561000	0.74099	GAG		0.547	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			15	64	0	0	0	1	0	15	64				
TRBV4-1	28617	broad.mit.edu	37	7	142013247	142013247	+	RNA	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:142013247G>T	ENST00000390357.3	+	0	131									T cell receptor beta variable 4-1																		TCATGGGAATGACAAATAAGA	0.458																																						ENST00000390357.3																			0																				97.0	94.0	95.0					7																	142013247		1874	4116	5990			28617							g.chr7:142013247G>T	U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013247G>T														0	131	+									RNA	SNP	ENST00000390357.3	37																																																																																						0.458	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351228.2	NG_001333		8	54	1	0	0.00307968	1	0.00311634	8	54				
C6	729	broad.mit.edu	37	5	41150077	41150077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41150077C>G	ENST00000263413.3	-	16	2605	c.2341G>C	c.(2341-2343)Gga>Cga	p.G781R	C6_ENST00000337836.5_Missense_Mutation_p.G781R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	781	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATTCAGATCCTGATTGTTTC	0.388																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2341-2343)Gga>Cga		complement component 6							126.0	117.0	120.0					5																	41150077		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41150077C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2341G>C	5.37:g.41150077C>G	ENSP00000263413:p.Gly781Arg					C6_ENST00000337836.5_Missense_Mutation_p.G781R	p.G781R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			16	2605	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	781			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2341G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911084	0.52439	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60672	0.17;0.17	4.86	4.86	0.63082	Factor I / membrane attack complex (1);	0.309813	0.33772	N	0.004563	T	0.74943	0.3783	M	0.74258	2.255	0.53688	D	0.999973	D	0.65815	0.995	D	0.63877	0.919	T	0.79027	-0.1971	10	0.72032	D	0.01	-6.8192	17.9825	0.89146	0.0:1.0:0.0:0.0	.	781	P13671	CO6_HUMAN	R	781	ENSP00000338861:G781R;ENSP00000263413:G781R	ENSP00000263413:G781R	G	-	1	0	C6	41185834	0.998000	0.40836	0.886000	0.34754	0.235000	0.25334	5.247000	0.65416	2.254000	0.74563	0.563000	0.77884	GGA		0.388	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			8	63	0	0	0	1	0	8	63				
FBXW11	23291	broad.mit.edu	37	5	171305024	171305024	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:171305024G>C	ENST00000265094.5	-	7	1036	c.899C>G	c.(898-900)tCt>tGt	p.S300C	FBXW11_ENST00000296933.6_Missense_Mutation_p.S287C|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000425623.2_Missense_Mutation_p.S268C|FBXW11_ENST00000393802.2_Missense_Mutation_p.S266C	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	300					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCACCGTAGAATCTGAAGA	0.458																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(859-861)tCt>tGt		F-box and WD repeat domain containing 11							110.0	95.0	100.0					5																	171305024		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171305024G>C	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.899C>G	5.37:g.171305024G>C	ENSP00000265094:p.Ser300Cys					FBXW11_ENST00000393802.2_Missense_Mutation_p.S266C|FBXW11_ENST00000265094.5_Missense_Mutation_p.S300C|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000425623.2_Missense_Mutation_p.S268C	p.S287C	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1230	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	300					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.860C>G	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792327	0.90453	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	N	0.21508	0.67	0.80722	D	1	B;D;D;D	0.89917	0.123;0.994;1.0;0.978	B;P;D;P	0.77557	0.122;0.888;0.99;0.772	T	0.70270	-0.4918	10	0.72032	D	0.01	-13.2055	18.7599	0.91847	0.0:0.0:1.0:0.0	.	268;266;300;287	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	C	287;300;266;268	ENSP00000296933:S287C;ENSP00000265094:S300C;ENSP00000377391:S266C;ENSP00000444929:S268C	ENSP00000265094:S300C	S	-	2	0	FBXW11	171237629	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	9.742000	0.98846	2.596000	0.87737	0.579000	0.79373	TCT		0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		13	36	0	0	0	1	0	13	36				
FBLN1	2192	broad.mit.edu	37	22	45931079	45931079	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45931079G>A	ENST00000327858.6	+	8	879		c.e8-1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000348697.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGTACCAGATATTGACGA	0.413																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.e8-1		fibulin 1							137.0	126.0	130.0					22																	45931079		2203	4300	6503	SO:0001630	splice_region_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45931079G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.785-1G>A	22.37:g.45931079G>A						FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site				P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	8	931	+		Ovarian(80;0.00965)|all_neural(38;0.0416)						B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	37		CCDS14067.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.343822	0.82022	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.648	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN1	44309743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.836000	0.92105	2.651000	0.90000	0.550000	0.68814	.		0.413	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Intron	15	67	0	0	0	1	0	15	67				
TRAV12-3	28672	broad.mit.edu	37	14	22434046	22434046	+	RNA	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:22434046C>G	ENST00000390442.3	+	0	155									T cell receptor alpha variable 12-3																		CTGGACCACTCAGTGTTCCAG	0.488																																						ENST00000390442.3																			0																				81.0	85.0	83.0					14																	22434046		1916	4118	6034			28672							g.chr14:22434046C>G	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22434046C>G														0	155	+									RNA	SNP	ENST00000390442.3	37																																																																																						0.488	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		14	64	0	0	0	1	0	14	64				
VWA2	340706	broad.mit.edu	37	10	116046112	116046112	+	Missense_Mutation	SNP	G	G	C	rs542177382		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:116046112G>C	ENST00000392982.3	+	11	1662	c.1412G>C	c.(1411-1413)cGa>cCa	p.R471P	VWA2_ENST00000603594.1_Missense_Mutation_p.R471P			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	471	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCAAGGGCGCGAGAGCTGCTC	0.632																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1411-1413)cGa>cCa		von Willebrand factor A domain containing 2							67.0	63.0	65.0					10																	116046112		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116046112G>C	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1412G>C	10.37:g.116046112G>C	ENSP00000376708:p.Arg471Pro					VWA2_ENST00000392982.3_Missense_Mutation_p.R471P	p.R471P	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1733	+			471			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1412G>C		.	.	.	.	.	.	.	.	.	.	G	13.01	2.108725	0.37242	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.84370	-1.84	5.87	1.97	0.26223	von Willebrand factor, type A (3);	0.144407	0.46442	D	0.000291	D	0.89326	0.6683	M	0.82323	2.585	0.09310	N	1	D;D;D	0.62365	0.987;0.991;0.988	P;D;P	0.64410	0.785;0.925;0.878	T	0.79014	-0.1976	10	0.34782	T	0.22	.	5.5519	0.17095	0.3396:0.1328:0.5276:0.0	.	167;471;471	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	P	471	ENSP00000376708:R471P	ENSP00000298715:R471P	R	+	2	0	VWA2	116036102	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	1.367000	0.34204	0.392000	0.25172	-0.165000	0.13383	CGA		0.632	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		22	87	0	0	0	1	0	22	87				
ALDH1L2	160428	broad.mit.edu	37	12	105445900	105445900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105445900C>G	ENST00000258494.9	-	12	1643	c.1503G>C	c.(1501-1503)atG>atC	p.M501I	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.M501I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	501	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCTTGCATTCATTCTTCCCC	0.353																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(1501-1503)atG>atC		aldehyde dehydrogenase 1 family, member L2							146.0	140.0	142.0					12																	105445900		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105445900C>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1503G>C	12.37:g.105445900C>G	ENSP00000258494:p.Met501Ile					ALDH1L2_ENST00000424857.2_Missense_Mutation_p.M501I	p.M501I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			12	1643	-			501			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1503G>C	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	3.537	-0.094605	0.07053	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.76316	-1.01;-1.01	5.57	4.67	0.58626	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.73372	2.23	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.71784	-0.4488	10	0.22109	T	0.4	.	16.428	0.83831	0.0:0.8684:0.1316:0.0	.	501	Q3SY69	AL1L2_HUMAN	I	501	ENSP00000258494:M501I;ENSP00000389608:M501I	ENSP00000258494:M501I	M	-	3	0	ALDH1L2	103970030	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.231000	0.78106	1.352000	0.45808	-0.175000	0.13238	ATG		0.353	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		21	47	0	0	0	1	0	21	47				
KNSTRN	90417	broad.mit.edu	37	15	40675205	40675205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40675205G>A	ENST00000249776.8	+	1	284	c.169G>A	c.(169-171)Gag>Aag	p.E57K	KNSTRN_ENST00000416151.2_Missense_Mutation_p.E57K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.E57K|KNSTRN_ENST00000608100.1_5'UTR	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TCTTTTAAACGAGAGCGAGAA	0.622																																						ENST00000416151.2																			0											c.(169-171)Gag>Aag		kinetochore-localized astrin/SPAG5 binding protein							57.0	64.0	62.0					15																	40675205		1866	4092	5958	SO:0001583	missense	90417							g.chr15:40675205G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.169G>A	15.37:g.40675205G>A	ENSP00000249776:p.Glu57Lys					KNSTRN_ENST00000448395.2_Missense_Mutation_p.E57K|KNSTRN_ENST00000249776.8_Missense_Mutation_p.E57K	p.E57K	NM_001142761.1	NP_001136233.1					1	284	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.169G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796532	0.31777	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.22945	1.93;1.93;1.93	4.34	-5.87	0.02297	.	2.222510	0.01522	N	0.018407	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B;B;B	0.33022	0.394;0.052;0.394	B;B;B	0.22386	0.039;0.014;0.039	T	0.13522	-1.0506	10	0.11485	T	0.65	-1.8462	3.7939	0.08732	0.232:0.4144:0.2695:0.0842	.	57;57;57	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	K	57	ENSP00000249776:E57K;ENSP00000391233:E57K;ENSP00000393001:E57K	ENSP00000249776:E57K	E	+	1	0	C15orf23	38462497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.430000	0.02434	-1.222000	0.02587	-1.196000	0.01674	GAG		0.622	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		35	138	0	0	0	1	0	35	138				
HPS6	79803	broad.mit.edu	37	10	103825450	103825450	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103825450C>T	ENST00000299238.5	+	1	304	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	73					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CCTGGCCGGCCGGCCAGCCCT	0.771									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(217-219)gcC>gcT		Hermansky-Pudlak syndrome 6							2.0	2.0	2.0					10																	103825450		1119	2464	3583	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825450C>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.219C>T	10.37:g.103825450C>T							p.A73A	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	304	+		Colorectal(252;0.122)	73					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.219C>T	CCDS7527.1																																																																																				0.771	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		6	2	0	0	0	1	0	6	2				
FOLR3	2352	broad.mit.edu	37	11	71850461	71850461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71850461G>A	ENST00000445078.2	+	4	619	c.548G>A	c.(547-549)tGg>tAg	p.W183*	FOLR3_ENST00000442948.2_Nonsense_Mutation_p.W142*|FOLR3_ENST00000456237.1_Nonsense_Mutation_p.W185*			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	141					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGCGCTGGTGGGAGGACTGT	0.562																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(547-549)tGg>tAg		folate receptor 3 (gamma)	Folic Acid(DB00158)						26.0	25.0	25.0					11																	71850461		2198	4287	6485	SO:0001587	stop_gained	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850461G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.548G>A	11.37:g.71850461G>A	ENSP00000390338:p.Trp183*					FOLR3_ENST00000442948.2_Nonsense_Mutation_p.W142*|FOLR3_ENST00000456237.1_Nonsense_Mutation_p.W185*	p.W183*			P41439	FOLR3_HUMAN			4	619	+			141					J3KQ90|Q05C14	Nonsense_Mutation	SNP	ENST00000445078.2	37	c.548G>A		.	.	.	.	.	.	.	.	.	.	N	16.01	3.002173	0.54254	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	.	.	.	3.21	3.21	0.36854	.	0.190464	0.37393	U	0.002102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7038	0.28638	0.1224:0.0:0.8776:0.0	.	.	.	.	X	183;185;142	.	ENSP00000411161:W142X	W	+	2	0	FOLR3	71528109	1.000000	0.71417	0.892000	0.35008	0.302000	0.27658	5.035000	0.64158	1.789000	0.52484	0.591000	0.81541	TGG		0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		3	23	0	0	0	1	0	3	23				
SHB	6461	broad.mit.edu	37	9	37955888	37955888	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:37955888C>T	ENST00000377707.3	-	4	1783	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	406	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACATTTGCTTCTCCAGGGGGA	0.512																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(1216-1218)gaG>gaA		Src homology 2 domain containing adaptor protein B							45.0	49.0	47.0					9																	37955888		1904	4118	6022	SO:0001819	synonymous_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37955888C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1218G>A	9.37:g.37955888C>T						RP11-613M10.9_ENST00000540557.1_3'UTR	p.E406E	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	4	1783	-		all_epithelial(88;0.122)	406			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	c.1218G>A	CCDS43806.1																																																																																				0.512	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			3	29	0	0	0	1	0	3	29				
TNRC6B	23112	broad.mit.edu	37	22	40660829	40660829	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:40660829G>A	ENST00000454349.2	+	5	806	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.E199K|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	199	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGACATGGAAGAGTGGCCTTG	0.532																																						ENST00000454349.2																			0				breast(1)	1						c.(595-597)Gag>Aag		trinucleotide repeat containing 6B							107.0	104.0	105.0					22																	40660829		1971	4173	6144	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40660829G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.595G>A	22.37:g.40660829G>A	ENSP00000401946:p.Glu199Lys					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E199K	p.E199K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	806	+			199					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.595G>A	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778430	0.49786	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.55052	0.54;0.54	5.44	5.44	0.79542	.	0.053431	0.64402	D	0.000001	T	0.49592	0.1566	L	0.43923	1.385	0.53688	D	0.999976	B;P;B	0.34522	0.451;0.455;0.241	B;B;B	0.37198	0.112;0.243;0.192	T	0.42310	-0.9459	10	0.29301	T	0.29	-2.4328	18.2777	0.90088	0.0:0.0:1.0:0.0	.	199;199;199	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	K	199	ENSP00000401946:E199K;ENSP00000338371:E199K	ENSP00000338371:E199K	E	+	1	0	TNRC6B	38990775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.368000	0.97152	2.559000	0.86315	0.650000	0.86243	GAG		0.532	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				21	133	0	0	0	1	0	21	133				
ZC3H6	376940	broad.mit.edu	37	2	113074098	113074098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:113074098C>T	ENST00000409871.1	+	6	1200	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.Q267*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	267							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATTTATTAATCAGCACACAGT	0.313																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(799-801)Cag>Tag		zinc finger CCCH-type containing 6							56.0	54.0	54.0					2																	113074098		1814	4058	5872	SO:0001587	stop_gained	376940						nucleic acid binding|zinc ion binding	g.chr2:113074098C>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.799C>T	2.37:g.113074098C>T	ENSP00000386764:p.Gln267*					ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.Q267*	p.Q267*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			6	1200	+			267					A9JR71|Q6ZW96	Nonsense_Mutation	SNP	ENST00000409871.1	37	c.799C>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	41	8.618313	0.98888	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	.	.	.	5.52	5.52	0.82312	.	0.116921	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.3939	19.7971	0.96490	0.0:1.0:0.0:0.0	.	.	.	.	X	267;267;244	.	ENSP00000340298:Q267X	Q	+	1	0	ZC3H6	112790569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.632000	0.67819	2.757000	0.94681	0.585000	0.79938	CAG		0.313	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		4	23	0	0	0	1	0	4	23				
SLITRK3	22865	broad.mit.edu	37	3	164905757	164905757	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:164905757G>A	ENST00000475390.1	-	2	3305	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	SLITRK3_ENST00000241274.3_Silent_p.L954L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	954					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCTTAACTCGAGGTAATCAC	0.448										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2860-2862)ctC>ctT		SLIT and NTRK-like family, member 3							174.0	171.0	172.0					3																	164905757		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905757G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2862C>T	3.37:g.164905757G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.L954L	p.L954L			O94933	SLIK3_HUMAN			2	3305	-			954					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2862C>T	CCDS3197.1																																																																																				0.448	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		49	134	0	0	0	1	0	49	134				
DIAPH1	1729	broad.mit.edu	37	5	140908745	140908745	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140908745G>A	ENST00000398557.4	-	21	2912	c.2772C>T	c.(2770-2772)ggC>ggT	p.G924G	DIAPH1_ENST00000398566.3_Silent_p.G916G|DIAPH1_ENST00000389057.5_Silent_p.G915G|DIAPH1_ENST00000520569.1_Silent_p.G867G|DIAPH1_ENST00000398562.2_Silent_p.G900G|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000253811.6_Silent_p.G925G|DIAPH1_ENST00000518047.1_Silent_p.G912G|DIAPH1_ENST00000389054.3_Silent_p.G921G	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	924	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCACCACGCCAAACTGCT	0.512																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2773-2775)ggC>ggT		diaphanous-related formin 1							115.0	117.0	116.0					5																	140908745		2155	4263	6418	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908745G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2772C>T	5.37:g.140908745G>A						DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Silent_p.G921G|DIAPH1_ENST00000518047.1_Silent_p.G912G|DIAPH1_ENST00000398557.4_Silent_p.G924G|DIAPH1_ENST00000398566.3_Silent_p.G916G|DIAPH1_ENST00000389057.5_Silent_p.G915G|DIAPH1_ENST00000520569.1_Silent_p.G867G|DIAPH1_ENST00000398562.2_Silent_p.G900G	p.G925G			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	2915	-			924			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.2775C>T	CCDS43374.1																																																																																				0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		4	113	0	0	0	1	0	4	113				
SWSAP1	126074	broad.mit.edu	37	19	11485524	11485524	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11485524C>T	ENST00000312423.2	+	1	164	c.105C>T	c.(103-105)ggC>ggT	p.G35G	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	35					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										AGGGCCAAGGCCCAGTCCTCT	0.642																																						ENST00000312423.2																			0											c.(103-105)ggC>ggT		SWIM-type zinc finger 7 associated protein 1							52.0	61.0	58.0					19																	11485524		2203	4300	6503	SO:0001819	synonymous_variant	126074							g.chr19:11485524C>T	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.105C>T	19.37:g.11485524C>T						CTD-2342J14.6_ENST00000590399.1_RNA	p.G35G	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			1	164	+			35					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.105C>T	CCDS12259.1																																																																																				0.642	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		44	135	0	0	0	1	0	44	135				
CYP2C18	1562	broad.mit.edu	37	10	96454787	96454787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454787G>T	ENST00000285979.6	+	4	794	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E199*	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	199					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TAACTTGATGGAAAAATTCAA	0.388																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(595-597)Gaa>Taa		cytochrome P450, family 2, subfamily C, polypeptide 18							62.0	62.0	62.0					10																	96454787		2203	4300	6503	SO:0001587	stop_gained	1562							g.chr10:96454787G>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.595G>T	10.37:g.96454787G>T	ENSP00000285979:p.Glu199*					CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E199*|CYP2C19_ENST00000464755.1_3'UTR	p.E199*	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	4	794	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Nonsense_Mutation	SNP	ENST00000285979.6	37	c.595G>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	37	6.139600	0.97320	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.53	-1.71	0.08133	.	0.829616	0.10710	U	0.642907	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	0.9188	0.01310	0.2854:0.2897:0.277:0.1478	.	.	.	.	X	199	.	ENSP00000285979:E199X	E	+	1	0	CYP2C18	96444777	0.000000	0.05858	0.000000	0.03702	0.507000	0.33981	-1.286000	0.02788	0.033000	0.15463	0.282000	0.19409	GAA		0.388	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		9	45	1	0	0.307466	1	0.307466	9	45				
DCST1	149095	broad.mit.edu	37	1	155018896	155018896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155018896G>A	ENST00000295542.1	+	13	1525	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	DCST1_ENST00000423025.2_Missense_Mutation_p.D452N|DCST1_ENST00000392480.1_Missense_Mutation_p.D477N|DCST1_ENST00000368419.2_Missense_Mutation_p.D477N|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	477						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGTGGCTTGGACTGGGCTCT	0.612																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1429-1431)Gac>Aac		DC-STAMP domain containing 1							189.0	136.0	154.0					1																	155018896		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155018896G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1429G>A	1.37:g.155018896G>A	ENSP00000295542:p.Asp477Asn					DCST1_ENST00000392480.1_Missense_Mutation_p.D477N|DCST1_ENST00000423025.2_Missense_Mutation_p.D452N|DCST1_ENST00000368419.2_Missense_Mutation_p.D477N	p.D477N	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		13	1525	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		477					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1429G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378545	0.61735	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.95	4.95	0.65309	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.78049	2.395	0.49798	D	0.999824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	D	0.86888	0.2046	10	0.87932	D	0	-38.2161	13.5445	0.61695	0.0:0.0:1.0:0.0	.	452;502;477	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	N	477;477;452;477	ENSP00000295542:D477N;ENSP00000376271:D477N;ENSP00000387369:D452N;ENSP00000357404:D477N	ENSP00000295542:D477N	D	+	1	0	DCST1	153285520	1.000000	0.71417	0.997000	0.53966	0.127000	0.20565	6.435000	0.73412	2.570000	0.86706	0.655000	0.94253	GAC		0.612	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		22	78	0	0	0	1	0	22	78				
TBX22	50945	broad.mit.edu	37	X	79281108	79281108	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:79281108C>G	ENST00000373294.5	+	4	493	c.465C>G	c.(463-465)gtC>gtG	p.V155V	TBX22_ENST00000442340.1_Silent_p.V35V|TBX22_ENST00000373291.1_Silent_p.V35V|TBX22_ENST00000373296.3_Silent_p.V155V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	155					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCAGGTACGTCTATCACAGCT	0.507																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(103-105)gtC>gtG		T-box 22							96.0	78.0	84.0					X																	79281108		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281108C>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.465C>G	X.37:g.79281108C>G						TBX22_ENST00000373294.5_Silent_p.V155V|TBX22_ENST00000373291.1_Silent_p.V35V|TBX22_ENST00000373296.3_Silent_p.V155V	p.V35V	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			5	595	+			155					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.105C>G	CCDS14445.1																																																																																				0.507	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		17	28	0	0	0	1	0	17	28				
CACNA1G	8913	broad.mit.edu	37	17	48655695	48655695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48655695G>A	ENST00000359106.5	+	9	2071	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	CACNA1G_ENST00000507510.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000352832.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E691K	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	691					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCAGACAGCGAGGCAGTTTA	0.667																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2071-2073)Gag>Aag		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						40.0	47.0	45.0					17																	48655695		2024	4168	6192	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655695G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2071G>A	17.37:g.48655695G>A	ENSP00000352011:p.Glu691Lys					CACNA1G_ENST00000515165.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E691K	p.E691K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2443	+	Breast(11;6.7e-17)		691					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2071G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	32	5.189024	0.94923	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96913	-4.03;-4.03;-4.17;-3.97;-4.02;-4.02;-4.06;-4.11;-4.09;-4.09;-4.1;-3.98;-3.99;-4.05;-4.02;-3.96;-4.05;-4.01;-3.98;-4.05;-4.03;-3.99;-4.04;-3.98;-4.05;-4.05	4.98	4.98	0.66077	.	1.644880	0.03213	N	0.176466	D	0.98194	0.9403	M	0.62723	1.935	0.58432	D	0.999999	D;P;D;D;P;P;D;D;D;P;D;P;P;P;D;B;P;B;D;P;D;P;D;P;P;P	0.71674	0.997;0.801;0.963;0.996;0.944;0.897;0.998;0.985;0.998;0.607;0.984;0.727;0.607;0.95;0.977;0.425;0.736;0.144;0.985;0.894;0.997;0.607;0.972;0.607;0.804;0.828	D;B;P;P;B;B;D;P;D;B;P;B;B;P;P;B;B;B;P;B;D;B;P;B;B;B	0.72982	0.967;0.217;0.588;0.88;0.281;0.31;0.979;0.608;0.979;0.107;0.54;0.216;0.107;0.453;0.487;0.107;0.195;0.032;0.608;0.154;0.955;0.154;0.54;0.107;0.124;0.357	D	0.91672	0.5351	10	0.56958	D	0.05	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691;691	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	K	691	ENSP00000353990:E691K;ENSP00000339302:E691K;ENSP00000392390:E691K;ENSP00000347078:E691K;ENSP00000409759:E691K;ENSP00000425522:E691K;ENSP00000426261:E691K;ENSP00000425451:E691K;ENSP00000422407:E691K;ENSP00000426814:E691K;ENSP00000427238:E691K;ENSP00000423112:E691K;ENSP00000420918:E691K;ENSP00000426172:E691K;ENSP00000423045:E691K;ENSP00000427173:E691K;ENSP00000426098:E691K;ENSP00000425698:E691K;ENSP00000426232:E691K;ENSP00000423317:E691K;ENSP00000350979:E691K;ENSP00000352011:E691K;ENSP00000414388:E691K;ENSP00000423155:E691K;ENSP00000422268:E691K;ENSP00000421518:E691K	ENSP00000339302:E691K	E	+	1	0	CACNA1G	46010694	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.862000	0.87013	2.311000	0.77944	0.655000	0.94253	GAG		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	58	0	0	0	1	0	19	58				
ZFP42	132625	broad.mit.edu	37	4	188924719	188924719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:188924719G>T	ENST00000326866.4	+	4	1166	c.758G>T	c.(757-759)gGa>gTa	p.G253V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G253V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	253					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGGGTGCGGAAAGCGCTTC	0.507																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(757-759)gGa>gTa		ZFP42 zinc finger protein							82.0	84.0	83.0					4																	188924719		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924719G>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.758G>T	4.37:g.188924719G>T	ENSP00000317686:p.Gly253Val					ZFP42_ENST00000509524.1_Missense_Mutation_p.G253V	p.G253V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1166	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	253					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.758G>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195154	0.58017	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.97642	-4.47;-4.47	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	.	15.272	0.73708	0.0:0.0:1.0:0.0	.	253	Q96MM3	ZFP42_HUMAN	V	253	ENSP00000317686:G253V;ENSP00000424662:G253V	ENSP00000317686:G253V	G	+	2	0	ZFP42	189161713	1.000000	0.71417	0.950000	0.38849	0.009000	0.06853	9.390000	0.97246	2.729000	0.93468	0.655000	0.94253	GGA		0.507	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		6	46	1	0	0.0215528	1	0.0217153	6	46				
PRDM16	63976	broad.mit.edu	37	1	3328667	3328667	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:3328667G>C	ENST00000270722.5	+	9	1955	c.1906G>C	c.(1906-1908)Gac>Cac	p.D636H	PRDM16_ENST00000378398.3_Missense_Mutation_p.D637H|PRDM16_ENST00000514189.1_Missense_Mutation_p.D637H|PRDM16_ENST00000441472.2_Missense_Mutation_p.D636H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D636H|PRDM16_ENST00000442529.2_Missense_Mutation_p.D636H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D637H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	636					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)		CCCTGACAAGGACAAGGGCAA	0.682			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				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.(1909-1911)Gac>Cac		PR domain containing 16							52.0	62.0	58.0					1																	3328667		2131	4217	6348	SO:0001583	missense	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.chr1:3328667G>C	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.1906G>C	1.37:g.3328667G>C	ENSP00000270722:p.Asp636His					PRDM16_ENST00000442529.2_Missense_Mutation_p.D636H|PRDM16_ENST00000514189.1_Missense_Mutation_p.D637H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D637H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D636H|PRDM16_ENST00000270722.5_Missense_Mutation_p.D636H|PRDM16_ENST00000441472.2_Missense_Mutation_p.D636H	p.D637H			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)	10	1991	+	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)	636					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1909G>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153843	0.21371	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05258	3.48;3.51;3.52;3.52;3.51;3.51;3.52;3.47;3.47	5.09	0.0734	0.14390	.	0.973028	0.08387	N	0.953579	T	0.03827	0.0108	N	0.08118	0	0.20764	N	0.999856	B;B;P;B	0.39181	0.291;0.415;0.663;0.291	B;B;B;B	0.40677	0.094;0.136;0.337;0.064	T	0.46303	-0.9201	10	0.31617	T	0.26	.	6.4342	0.21815	0.4248:0.1283:0.4469:0.0	.	636;636;636;636	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	H	637;637;636;636;636;637;636;452;452;445	ENSP00000426975:D637H;ENSP00000367651:D637H;ENSP00000407968:D636H;ENSP00000405253:D636H;ENSP00000367643:D636H;ENSP00000421400:D637H;ENSP00000270722:D636H;ENSP00000422504:D452H;ENSP00000425796:D445H	ENSP00000270722:D636H	D	+	1	0	PRDM16	3318527	0.000000	0.05858	0.706000	0.30403	0.782000	0.44232	-0.138000	0.10374	0.111000	0.17947	0.603000	0.83216	GAC		0.682	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		16	132	0	0	0	1	0	16	132				
PCMT1	5110	broad.mit.edu	37	6	150114710	150114710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150114710G>A	ENST00000367380.5	+	5	530	c.323G>A	c.(322-324)gGa>gAa	p.G108E	RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367378.1_Missense_Mutation_p.G166E|PCMT1_ENST00000367384.2_Missense_Mutation_p.G166E|PCMT1_ENST00000544496.1_Missense_Mutation_p.G73E|PCMT1_ENST00000464889.1_Missense_Mutation_p.G166E	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	108					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AAAGTCATAGGAATTGATCAC	0.363																																						ENST00000464889.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(496-498)gGa>gAa		protein-L-isoaspartate (D-aspartate) O-methyltransferase							70.0	73.0	72.0					6																	150114710		2203	4300	6503	SO:0001583	missense	5110							g.chr6:150114710G>A		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.323G>A	6.37:g.150114710G>A	ENSP00000356350:p.Gly108Glu					PCMT1_ENST00000544496.1_Missense_Mutation_p.G73E|PCMT1_ENST00000367378.1_Missense_Mutation_p.G166E|PCMT1_ENST00000367384.2_Missense_Mutation_p.G166E|PCMT1_ENST00000367380.5_Missense_Mutation_p.G108E	p.G166E					BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)	5	781	+		Ovarian(120;0.0907)						A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37	c.497G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.378043	0.95945	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.66;1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88495	0.3078	10	0.87932	D	0	-13.3258	19.9946	0.97381	0.0:0.0:1.0:0.0	.	73;108;108	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	E	166;166;166;108;73;77	ENSP00000356354:G166E;ENSP00000356348:G166E;ENSP00000420813:G166E;ENSP00000356350:G108E;ENSP00000438247:G73E;ENSP00000418881:G77E	ENSP00000356348:G166E	G	+	2	0	PCMT1	150156403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.694000	0.98686	2.728000	0.93425	0.591000	0.81541	GGA		0.363	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	29	0	0	0	1	0	6	29				
SPATA19	219938	broad.mit.edu	37	11	133714494	133714494	+	Silent	SNP	G	G	A	rs139740763		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133714494G>A	ENST00000299140.3	-	3	231	c.177C>T	c.(175-177)tcC>tcT	p.S59S	SPATA19_ENST00000532889.1_Silent_p.S59S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	59					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGTGGTTGATGGACAGCTTTT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19815	0.001		0.0	False		,,,				2504	0.0					ENST00000299140.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(175-177)tcC>tcT		spermatogenesis associated 19							129.0	126.0	127.0					11																	133714494		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714494G>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.177C>T	11.37:g.133714494G>A						SPATA19_ENST00000532889.1_Silent_p.S59S	p.S59S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	3	231	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	59					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.177C>T	CCDS8493.1																																																																																				0.512	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		10	63	0	0	0	1	0	10	63				
AK9	221264	broad.mit.edu	37	6	109962782	109962782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:109962782C>T	ENST00000424296.2	-	10	948	c.872G>A	c.(871-873)aGa>aAa	p.R291K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R291K|AK9_ENST00000285397.5_Missense_Mutation_p.R291K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	291					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)										AATAGCTGCTCTTTTTAGGTT	0.313																																						ENST00000424296.2																			0											c.(871-873)aGa>aAa		adenylate kinase 9							128.0	117.0	121.0					6																	109962782		2203	4299	6502	SO:0001583	missense	221264							g.chr6:109962782C>T	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.872G>A	6.37:g.109962782C>T	ENSP00000410186:p.Arg291Lys					AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R291K|AK9_ENST00000285397.5_Missense_Mutation_p.R291K	p.R291K	NM_001145128.2	NP_001138600.2					10	948	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.872G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546791	0.27652	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084	T;T;T;T	0.64085	-0.08;-0.08;-0.06;0.85	5.44	3.64	0.41730	.	0.525509	0.21413	N	0.074946	T	0.30854	0.0778	L	0.41824	1.3	0.80722	D	1	P;P	0.40794	0.679;0.729	B;B	0.38921	0.255;0.285	T	0.10042	-1.0647	9	.	.	.	-12.2989	5.1802	0.15156	0.0:0.6228:0.1636:0.2136	.	291;291	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	K	291;291;291;214	ENSP00000410186:R291K;ENSP00000357944:R291K;ENSP00000285397:R291K;ENSP00000407510:R214K	.	R	-	2	0	AKD1	110069475	0.853000	0.29707	0.977000	0.42913	0.310000	0.27922	0.273000	0.18662	0.652000	0.30806	-0.182000	0.12963	AGA		0.313	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		7	19	0	0	0	1	0	7	19				
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244.0	257.0	253.0					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser					FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron	p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	346	0	0	0	1	0	5	346				
SVEP1	79987	broad.mit.edu	37	9	113194255	113194255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113194255C>G	ENST00000401783.2	-	32	5629	c.5293G>C	c.(5293-5295)Gat>Cat	p.D1765H	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1742H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1765	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGGATCCATCTACGTTCAGG	0.383																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5293-5295)Gat>Cat		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							155.0	149.0	151.0					9																	113194255		1980	4178	6158	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194255C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5293G>C	9.37:g.113194255C>G	ENSP00000384917:p.Asp1765His					SVEP1_ENST00000374469.1_Missense_Mutation_p.D1742H	p.D1765H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			32	5629	-			1765			EGF-like 7; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5293G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866376	0.32977	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.92446	-3.04;-3.04	5.62	3.29	0.37713	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.193430	0.53938	D	0.000053	D	0.89726	0.6798	L	0.42008	1.315	0.80722	D	1	P	0.38335	0.627	P	0.45998	0.5	D	0.84381	0.0549	10	0.30078	T	0.28	.	9.6008	0.39603	0.0:0.1452:0.0:0.8548	.	1765	Q4LDE5	SVEP1_HUMAN	H	1765;1742	ENSP00000384917:D1765H;ENSP00000363593:D1742H	ENSP00000363593:D1742H	D	-	1	0	SVEP1	112234076	1.000000	0.71417	0.173000	0.22940	0.002000	0.02628	3.679000	0.54634	0.405000	0.25532	-0.302000	0.09304	GAT		0.383	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	72	0	0	0	1	0	14	72				
FBN3	84467	broad.mit.edu	37	19	8201186	8201186	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8201186G>A	ENST00000600128.1	-	12	1767	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	FBN3_ENST00000270509.2_Silent_p.D451D|FBN3_ENST00000601739.1_Silent_p.D451D			Q75N90	FBN3_HUMAN	fibrillin 3	451	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCATTCGTCTACATCTG	0.682																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1351-1353)gaC>gaT		fibrillin 3							67.0	57.0	60.0					19																	8201186		2203	4299	6502	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201186G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1353C>T	19.37:g.8201186G>A						FBN3_ENST00000270509.2_Silent_p.D451D|FBN3_ENST00000601739.1_Silent_p.D451D	p.D451D			Q75N90	FBN3_HUMAN			12	1767	-			451			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.1353C>T	CCDS12196.1																																																																																				0.682	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	86	0	0	0	1	0	4	86				
FAT1	2195	broad.mit.edu	37	4	187549761	187549761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187549761G>A	ENST00000441802.2	-	8	4689	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1494	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTACTGCTCTGCAGAGTGTAG	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4480-4482)Cag>Tag		FAT atypical cadherin 1							140.0	131.0	134.0					4																	187549761		1867	4105	5972	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549761G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4480C>T	4.37:g.187549761G>A	ENSP00000406229:p.Gln1494*	HNSCC(5;0.00058)					p.Q1494*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			8	4689	-			1494			Cadherin 13.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4480C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.616765	0.99220	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.45	5.45	0.79879	.	0.180215	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.556	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	X	1494	.	ENSP00000260147:Q1494X	Q	-	1	0	FAT1	187786755	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.670000	0.83925	2.861000	0.98227	0.650000	0.86243	CAG		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	54	0	0	0	1	0	10	54				
FLG2	388698	broad.mit.edu	37	1	152326687	152326687	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152326687G>C	ENST00000388718.5	-	3	3647	c.3575C>G	c.(3574-3576)tCt>tGt	p.S1192C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1192	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGTCCAGAACTAGAGAA	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3574-3576)tCt>tGt		filaggrin family member 2							100.0	99.0	99.0					1																	152326687		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326687G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3575C>G	1.37:g.152326687G>C	ENSP00000373370:p.Ser1192Cys					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1192C	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3647	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1192			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3575C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307620	0.23821	.	.	ENSG00000143520	ENST00000388718	T	0.37584	1.19	2.67	-5.35	0.02697	.	.	.	.	.	T	0.07324	0.0185	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.15484	0.013	T	0.17471	-1.0368	9	0.37606	T	0.19	.	4.3577	0.11187	0.3133:0.0:0.1501:0.5365	.	1192	Q5D862	FILA2_HUMAN	C	1192	ENSP00000373370:S1192C	ENSP00000373370:S1192C	S	-	2	0	FLG2	150593311	0.143000	0.22626	0.000000	0.03702	0.145000	0.21501	-0.626000	0.05527	-1.904000	0.01092	0.306000	0.20318	TCT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		18	86	0	0	0	1	0	18	86				
GLIS2	84662	broad.mit.edu	37	16	4382387	4382387	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:4382387C>T	ENST00000262366.3	+	3	927	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	GLIS2_ENST00000433375.1_Silent_p.L36L|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	36	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCCGTGCTCTGCACAGGGA	0.687																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(106-108)Ctg>Ttg		GLIS family zinc finger 2							33.0	35.0	35.0					16																	4382387		2196	4298	6494	SO:0001819	synonymous_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4382387C>T	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.106C>T	16.37:g.4382387C>T						GLIS2_ENST00000433375.1_Silent_p.L36L|PAM16_ENST00000577031.1_Intron	p.L36L			Q9BZE0	GLIS2_HUMAN			3	927	+			36			Interaction with CTNND1 (By similarity).		B3KX84	Silent	SNP	ENST00000262366.3	37	c.106C>T	CCDS10511.1																																																																																				0.687	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		7	24	0	0	0	1	0	7	24				
LRRC8C	84230	broad.mit.edu	37	1	90179711	90179711	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:90179711G>C	ENST00000370454.4	+	3	1837	c.1582G>C	c.(1582-1584)Gat>Cat	p.D528H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	528					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCTAAGTCATGATATTTCCAG	0.468																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1582-1584)Gat>Cat		leucine rich repeat containing 8 family, member C							80.0	79.0	79.0					1																	90179711		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179711G>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1582G>C	1.37:g.90179711G>C	ENSP00000359483:p.Asp528His					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.D528H	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1837	+		all_lung(203;0.126)	528					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1582G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497258	0.64186	.	.	ENSG00000171488	ENST00000370454	T	0.25749	1.78	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.62154	1.92	0.80722	D	1	D	0.58970	0.984	P	0.62014	0.897	T	0.21724	-1.0237	10	0.72032	D	0.01	.	19.9628	0.97258	0.0:0.0:1.0:0.0	.	528	Q8TDW0	LRC8C_HUMAN	H	528	ENSP00000359483:D528H	ENSP00000359483:D528H	D	+	1	0	LRRC8C	89952299	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	9.813000	0.99286	2.784000	0.95788	0.644000	0.83932	GAT		0.468	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		10	52	0	0	0	1	0	10	52				
MAB21L2	10586	broad.mit.edu	37	4	151504655	151504655	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:151504655C>G	ENST00000317605.4	+	1	1579	c.474C>G	c.(472-474)gtC>gtG	p.V158V	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	158					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAGCGAGGTCAAGTTGCGCA	0.622																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(472-474)gtC>gtG		mab-21-like 2 (C. elegans)							99.0	97.0	98.0					4																	151504655		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504655C>G	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.474C>G	4.37:g.151504655C>G						LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	p.V158V	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1579	+	all_hematologic(180;0.151)		158					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.474C>G	CCDS3774.1																																																																																				0.622	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		19	99	0	0	0	1	0	19	99				
PVRL3	25945	broad.mit.edu	37	3	110852721	110852721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:110852721G>A	ENST00000485303.1	+	6	1584	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	437					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTCGTGGAGACTACTTTGC	0.418																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1309-1311)Gac>Aac		poliovirus receptor-related 3							122.0	121.0	121.0					3																	110852721		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852721G>A	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1309G>A	3.37:g.110852721G>A	ENSP00000418070:p.Asp437Asn					PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	p.D437N	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			6	1584	+			437					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.1309G>A	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831956	0.71258	.	.	ENSG00000177707	ENST00000485303	T	0.21932	1.98	5.91	5.91	0.95273	.	0.098716	0.64402	D	0.000002	T	0.46386	0.1390	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.28650	-1.0037	10	0.72032	D	0.01	.	17.7894	0.88547	0.0:0.0:1.0:0.0	.	437	Q9NQS3	PVRL3_HUMAN	N	437	ENSP00000418070:D437N	ENSP00000418070:D437N	D	+	1	0	PVRL3	112335411	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.767000	0.74975	2.805000	0.96524	0.460000	0.39030	GAC		0.418	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		28	70	0	0	0	1	0	28	70				
NDNL2	56160	broad.mit.edu	37	15	29561130	29561130	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:29561130C>G	ENST00000332303.4	-	1	903	c.780G>C	c.(778-780)aaG>aaC	p.K260N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	260	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAACTTTCATCTTGCTGGTTT	0.557																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(778-780)aaG>aaC		necdin-like 2							98.0	103.0	101.0					15																	29561130		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561130C>G	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.780G>C	15.37:g.29561130C>G	ENSP00000330694:p.Lys260Asn					FAM189A1_ENST00000261275.4_Intron	p.K260N	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	903	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	260			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.780G>C	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523499	0.64747	.	.	ENSG00000185115	ENST00000332303	T	0.05855	3.38	3.94	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	H	0.94542	3.55	0.45342	D	0.998333	D	0.89917	1.0	D	0.91635	0.999	T	0.10451	-1.0629	10	0.87932	D	0	.	7.6209	0.28185	0.0:0.8852:0.0:0.1148	.	260	Q96MG7	MAGG1_HUMAN	N	260	ENSP00000330694:K260N	ENSP00000330694:K260N	K	-	3	2	NDNL2	27348422	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.862000	0.48388	1.244000	0.43870	-0.253000	0.11424	AAG		0.557	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		30	119	0	0	0	1	0	30	119				
SP110	3431	broad.mit.edu	37	2	231079776	231079776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:231079776G>C	ENST00000358662.4	-	3	283	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V	SP110_ENST00000258382.5_Missense_Mutation_p.L69V|SP110_ENST00000258381.6_Missense_Mutation_p.L69V|SP110_ENST00000540870.1_Missense_Mutation_p.L75V|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000392048.3_Missense_Mutation_p.L69V	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	69	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTGGGTGAGAATGTTGTGC	0.388																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(205-207)Ctc>Gtc		SP110 nuclear body protein							102.0	102.0	102.0					2																	231079776		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231079776G>C	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.205C>G	2.37:g.231079776G>C	ENSP00000351488:p.Leu69Val					SP110_ENST00000258382.5_Missense_Mutation_p.L69V|SP110_ENST00000358662.4_Missense_Mutation_p.L69V|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000392048.3_Missense_Mutation_p.L69V|SP110_ENST00000540870.1_Missense_Mutation_p.L75V	p.L69V	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	3	282	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	69			HSR.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.205C>G	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475794	0.63737	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815;ENST00000455674;ENST00000416610	D;D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	4.2	4.2	0.49525	Sp100 (2);	0.000000	0.37178	N	0.002202	D	0.98498	0.9499	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	D	0.98455	1.0593	10	0.87932	D	0	.	12.3588	0.55190	0.0:0.0:1.0:0.0	.	69;75;69;69	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	V	69;69;69;69;75;69;23;69	ENSP00000258381:L69V;ENSP00000351488:L69V;ENSP00000375902:L69V;ENSP00000258382:L69V;ENSP00000439558:L75V;ENSP00000387172:L69V;ENSP00000393992:L23V;ENSP00000399978:L69V	ENSP00000258381:L69V	L	-	1	0	SP110	230788020	0.990000	0.36364	0.519000	0.27824	0.992000	0.81027	3.699000	0.54778	2.612000	0.88384	0.655000	0.94253	CTC		0.388	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		4	71	0	0	0	1	0	4	71				
MUC13	56667	broad.mit.edu	37	3	124627121	124627121	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124627121G>A	ENST00000311075.3	-	11	1447	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	471					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GAAGCCTGTCGACCGCAGTTT	0.423																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1408-1410)tCg>tTg		mucin 13, cell surface associated							109.0	100.0	103.0					3																	124627121		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124627121G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1409C>T	3.37:g.124627121G>A	ENSP00000312235:p.Ser470Leu						p.S470L	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			11	1447	-			470					Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.1409C>T		.	.	.	.	.	.	.	.	.	.	G	9.258	1.042486	0.19748	.	.	ENSG00000173702	ENST00000311075	T	0.14516	2.5	3.92	-3.35	0.04928	.	1.914830	0.02462	N	0.086655	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	B	0.29671	0.254	B	0.21151	0.033	T	0.35649	-0.9780	10	0.41790	T	0.15	3.2899	13.8703	0.63615	0.0:0.0:0.7117:0.2883	.	470	Q9H3R2	MUC13_HUMAN	L	470	ENSP00000312235:S470L	ENSP00000312235:S470L	S	-	2	0	MUC13	126109811	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.026000	0.12392	-0.612000	0.05701	-0.181000	0.13052	TCG		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		11	51	0	0	0	1	0	11	51				
CYP3A43	64816	broad.mit.edu	37	7	99447259	99447259	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99447259G>A	ENST00000354829.2	+	7	715	c.612G>A	c.(610-612)ctG>ctA	p.L204L	CYP3A43_ENST00000342499.4_Missense_Mutation_p.E67K|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L204L|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L204L|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	204			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	ATCCCTTTCTGAAAAATATGA	0.363																																						ENST00000342499.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(199-201)Gaa>Aaa		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						97.0	95.0	96.0					7																	99447259		2203	4300	6503	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99447259G>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.612G>A	7.37:g.99447259G>A						CYP3A43_ENST00000354829.2_Silent_p.L204L|CYP3A43_ENST00000312017.5_Silent_p.L204L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L204L|CYP3A43_ENST00000477658.1_Intron	p.E67K			Q9HB55	CP343_HUMAN			5	549	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		0		YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.199G>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258166	0.23051	.	.	ENSG00000021461	ENST00000342499;ENST00000379654	T	0.75050	-0.9	3.14	2.24	0.28232	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.18873	N	0.999989	B	0.26876	0.162	B	0.22880	0.042	T	0.54715	-0.8252	8	0.87932	D	0	.	4.374	0.11262	0.1317:0.0:0.6475:0.2208	.	67	F8W6L8	.	K	67;98	ENSP00000345351:E67K	ENSP00000345351:E67K	E	+	1	0	CYP3A43	99285195	0.000000	0.05858	0.766000	0.31476	0.605000	0.37080	-0.445000	0.06845	0.595000	0.29777	0.195000	0.17529	GAA		0.363	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			14	58	0	0	0	1	0	14	58				
ACACA	31	broad.mit.edu	37	17	35634007	35634007	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35634007C>A	ENST00000394406.2	-	7	800	c.610G>T	c.(610-612)Gca>Tca	p.A204S	ACACA_ENST00000335166.5_Splice_Site_p.A126S|ACACA_ENST00000360679.3_Splice_Site_p.A146S|ACACA_ENST00000353139.5_Splice_Site_p.A241S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	204	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCCACACTGCCTGCAAGGGA	0.448																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e7-1		acetyl-CoA carboxylase alpha	Biotin(DB00121)						109.0	110.0	109.0					17																	35634007		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35634007C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.610-1G>T	17.37:g.35634007C>A						ACACA_ENST00000394406.2_Splice_Site_p.A204_splice|ACACA_ENST00000360679.3_Splice_Site_p.A146_splice|ACACA_ENST00000335166.5_Splice_Site_p.A126_splice	p.A241_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			7	1202	-		Breast(25;0.00157)|Ovarian(249;0.15)	204			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37	c.720_splice	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605898	0.96626	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.57	5.57	0.84162	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	H	0.98833	4.345	0.80722	D	1	P;D;D	0.76494	0.897;0.997;0.999	P;D;D	0.81914	0.874;0.99;0.995	D	0.99312	1.0904	10	0.87932	D	0	-7.2414	19.5486	0.95309	0.0:1.0:0.0:0.0	.	241;204;146	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	S	241;146;204;228;126;126	ENSP00000344789:A241S;ENSP00000353898:A146S;ENSP00000377928:A204S;ENSP00000335323:A126S	ENSP00000335323:A126S	A	-	1	0	ACACA	32708120	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.696000	0.84270	2.609000	0.88269	0.591000	0.81541	GCA		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Missense_Mutation	24	94	1	0	1.10513e-12	1	1.16232e-12	24	94				
SORL1	6653	broad.mit.edu	37	11	121476202	121476202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:121476202C>T	ENST00000260197.7	+	35	4999	c.4870C>T	c.(4870-4872)Cag>Tag	p.Q1624*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q568*|SORL1_ENST00000527934.1_Nonsense_Mutation_p.Q239*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.Q534*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.Q470*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1624	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACCACGTATCAGGTTAAAGT	0.448																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4870-4872)Cag>Tag		sortilin-related receptor, L(DLR class) A repeats containing							193.0	185.0	188.0					11																	121476202		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476202C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4870C>T	11.37:g.121476202C>T	ENSP00000260197:p.Gln1624*					SORL1_ENST00000527934.1_Nonsense_Mutation_p.Q239*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.Q534*|SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q568*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.Q470*	p.Q1624*	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4999	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1624			Fibronectin type-III 1.		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.4870C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	38	7.261718	0.98171	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	.	.	.	5.7	5.7	0.88788	.	0.134780	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.4362	0.94796	0.0:1.0:0.0:0.0	.	.	.	.	X	1624;568;470;534;239	.	ENSP00000260197:Q1624X	Q	+	1	0	SORL1	120981412	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.641000	0.67881	2.683000	0.91414	0.655000	0.94253	CAG		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		42	177	0	0	0	1	0	42	177				
IER2	9592	broad.mit.edu	37	19	13264165	13264165	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:13264165C>G	ENST00000588173.1	+	1	1377	c.165C>G	c.(163-165)ctC>ctG	p.L55L	IER2_ENST00000292433.3_Silent_p.L55L|IER2_ENST00000587885.1_Silent_p.L55L|CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	55						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGAGGCCCTCGAGCCCGAGG	0.731											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000588173.1																			0				kidney(1)|lung(1)|ovary(1)|skin(1)	4						c.(163-165)ctC>ctG		immediate early response 2							12.0	13.0	13.0					19																	13264165		2196	4293	6489	SO:0001819	synonymous_variant	9592							g.chr19:13264165C>G	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.165C>G	19.37:g.13264165C>G			OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	IER2_ENST00000292433.3_Silent_p.L55L|CTC-250I14.6_ENST00000592882.1_RNA|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000587885.1_Silent_p.L55L	p.L55L			Q9BTL4	IER2_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		1	1377	+			55					Q03827|Q2TAZ2	Silent	SNP	ENST00000588173.1	37	c.165C>G	CCDS12295.1																																																																																				0.731	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1	NM_004907		6	11	0	0	0	1	0	6	11				
BRIP1	83990	broad.mit.edu	37	17	59761219	59761219	+	Missense_Mutation	SNP	G	G	C	rs575998972		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:59761219G>C	ENST00000259008.2	-	20	3455	c.3188C>G	c.(3187-3189)tCg>tGg	p.S1063W		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1063	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGATCCAAACGATGTGTTTAC	0.388			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3187-3189)tCg>tGg	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							194.0	192.0	193.0					17																	59761219		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761219G>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3188C>G	17.37:g.59761219G>C	ENSP00000259008:p.Ser1063Trp						p.S1063W	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3455	-			1063			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3188C>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798083	0.31777	.	.	ENSG00000136492	ENST00000259008	T	0.75938	-0.98	5.28	4.31	0.51392	.	0.530279	0.17031	N	0.189695	T	0.70448	0.3225	L	0.27053	0.805	0.26929	N	0.966519	D	0.63880	0.993	P	0.54924	0.764	T	0.61277	-0.7095	9	.	.	.	-1.0393	10.3063	0.43683	0.092:0.0:0.908:0.0	.	1063	Q9BX63	FANCJ_HUMAN	W	1063	ENSP00000259008:S1063W	.	S	-	2	0	BRIP1	57116001	0.249000	0.23941	0.008000	0.14137	0.224000	0.24922	2.131000	0.42074	2.470000	0.83445	0.557000	0.71058	TCG		0.388	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		20	138	0	0	0	1	0	20	138				
PDIA6	10130	broad.mit.edu	37	2	10942636	10942636	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942636G>A	ENST00000272227.3	-	2	297	c.150C>T	c.(148-150)ttC>ttT	p.F50F	PDIA6_ENST00000404824.2_Silent_p.F98F|PDIA6_ENST00000540494.1_Silent_p.F47F|PDIA6_ENST00000381611.4_Silent_p.F55F|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404371.2_Silent_p.F102F	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	50	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATGGAGCATAGAATTCTACAA	0.313																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(304-306)ttC>ttT		protein disulfide isomerase family A, member 6							62.0	61.0	61.0					2																	10942636		2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10942636G>A	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.150C>T	2.37:g.10942636G>A						PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000272227.3_Silent_p.F50F|PDIA6_ENST00000381611.4_Silent_p.F55F|PDIA6_ENST00000404824.2_Silent_p.F98F|PDIA6_ENST00000540494.1_Silent_p.F47F	p.F102F			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	4	643	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		50			Thioredoxin 1.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.306C>T	CCDS1675.1																																																																																				0.313	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		10	45	0	0	0	1	0	10	45				
TMEM132A	54972	broad.mit.edu	37	11	60696151	60696151	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60696151C>T	ENST00000453848.2	+	4	743	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TMEM132A_ENST00000005286.4_Silent_p.F195F			Q24JP5	T132A_HUMAN	transmembrane protein 132A	195						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGCACTGGTTCTCACAGGCCT	0.677																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(583-585)ttC>ttT		transmembrane protein 132A							35.0	38.0	37.0					11																	60696151		2200	4290	6490	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696151C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.585C>T	11.37:g.60696151C>T						TMEM132A_ENST00000453848.2_Silent_p.F195F	p.F195F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	738	+			195					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.585C>T	CCDS44618.1																																																																																				0.677	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		18	68	0	0	0	1	0	18	68				
IGSF9B	22997	broad.mit.edu	37	11	133788957	133788957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133788957C>G	ENST00000321016.8	-	19	4257	c.4027G>C	c.(4027-4029)Gag>Cag	p.E1343Q	IGSF9B_ENST00000533871.2_Intron			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1343					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGTGCTCTCTCAGGCGGGCTG	0.622																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(4027-4029)Gag>Cag		immunoglobulin superfamily, member 9B							34.0	40.0	38.0					11																	133788957		1918	4148	6066	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133788957C>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.4027G>C	11.37:g.133788957C>G	ENSP00000317980:p.Glu1343Gln					IGSF9B_ENST00000533871.2_Intron	p.E1343Q			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	19	4257	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1343					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.4027G>C		.	.	.	.	.	.	.	.	.	.	C	7.675	0.687835	0.14973	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.64438	0.23;-0.1	4.63	4.63	0.57726	.	.	.	.	.	T	0.41259	0.1151	N	0.08118	0	0.21861	N	0.999505	B	0.22414	0.069	B	0.17098	0.017	T	0.20438	-1.0275	9	0.41790	T	0.15	.	10.0816	0.42393	0.0:0.906:0.0:0.094	.	1343	Q9UPX0	TUTLB_HUMAN	Q	1343;1185	ENSP00000317980:E1343Q;ENSP00000436552:E1185Q	ENSP00000317980:E1343Q	E	-	1	0	IGSF9B	133294167	0.871000	0.30034	0.181000	0.23098	0.372000	0.29890	1.570000	0.36439	2.382000	0.81193	0.462000	0.41574	GAG		0.622	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	6	0	0	0	1	0	4	6				
FAT1	2195	broad.mit.edu	37	4	187527363	187527363	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187527363G>C	ENST00000441802.2	-	17	10420	c.10211C>G	c.(10210-10212)tCa>tGa	p.S3404*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3404	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGTAACCTGAAATCTTTTC	0.517										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10210-10212)tCa>tGa		FAT atypical cadherin 1							93.0	92.0	92.0					4																	187527363		1986	4177	6163	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187527363G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10211C>G	4.37:g.187527363G>C	ENSP00000406229:p.Ser3404*	HNSCC(5;0.00058)					p.S3404*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			17	10420	-			3404			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10211C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	53	20.608368	0.99932	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.2092	0.93747	0.0:0.0:1.0:0.0	.	.	.	.	X	3404;3406	.	ENSP00000260147:S3406X	S	-	2	0	FAT1	187764357	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.442000	0.97566	2.540000	0.85666	0.462000	0.41574	TCA		0.517	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	41	0	0	0	1	0	9	41				
SLC6A19	340024	broad.mit.edu	37	5	1212485	1212485	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1212485C>T	ENST00000304460.10	+	4	605	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	183					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCTCAACATCTCCACGTCCA	0.617																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(547-549)atC>atT		solute carrier family 6 (neutral amino acid transporter), member 19							164.0	140.0	148.0					5																	1212485		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1212485C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.549C>T	5.37:g.1212485C>T							p.I183I	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	605	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		183					A8K446	Silent	SNP	ENST00000304460.10	37	c.549C>T	CCDS34130.1																																																																																				0.617	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		31	109	0	0	0	1	0	31	109				
CCDC74A	90557	broad.mit.edu	37	2	132288372	132288372	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:132288372C>G	ENST00000295171.6	+	3	654	c.516C>G	c.(514-516)ttC>ttG	p.F172L	CCDC74A_ENST00000467992.2_Missense_Mutation_p.F274L|CCDC74A_ENST00000409856.3_Missense_Mutation_p.F106L	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	172										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGTCAAGCTTCCAGTCTGTCA	0.637																																						ENST00000467992.2																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(820-822)ttC>ttG		coiled-coil domain containing 74A							43.0	56.0	51.0					2																	132288372		2199	4296	6495	SO:0001583	missense	90557							g.chr2:132288372C>G		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.516C>G	2.37:g.132288372C>G	ENSP00000295171:p.Phe172Leu					CCDC74A_ENST00000409856.3_Missense_Mutation_p.F106L|CCDC74A_ENST00000295171.6_Missense_Mutation_p.F172L	p.F274L			Q96AQ1	CC74A_HUMAN			1	1136	+			172					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.822C>G	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	2.434	-0.330103	0.05314	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.51817	1.92;2.11;0.9;0.69	2.13	-1.6	0.08426	.	0.936628	0.08721	N	0.903519	T	0.24586	0.0596	N	0.21583	0.68	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.15484	0.003;0.013	T	0.28839	-1.0031	10	0.02654	T	1	-0.7058	5.381	0.16192	0.0:0.5473:0.0:0.4527	.	106;172	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	L	172;106;101;274	ENSP00000295171:F172L;ENSP00000387009:F106L;ENSP00000406839:F101L;ENSP00000444610:F274L	ENSP00000295171:F172L	F	+	3	2	CCDC74A	132004842	0.335000	0.24748	0.006000	0.13384	0.049000	0.14656	0.404000	0.20999	-0.306000	0.08818	0.194000	0.17425	TTC		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		11	56	0	0	0	1	0	11	56				
CORO2A	7464	broad.mit.edu	37	9	100888996	100888996	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100888996C>G	ENST00000343933.5	-	11	1538	c.1281G>C	c.(1279-1281)ttG>ttC	p.L427F	CORO2A_ENST00000375077.4_Missense_Mutation_p.L427F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	427					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGTCTGATTCAAGAGCCGGG	0.582																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(1279-1281)ttG>ttC		coronin, actin binding protein, 2A							117.0	122.0	120.0					9																	100888996		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100888996C>G	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1281G>C	9.37:g.100888996C>G	ENSP00000343746:p.Leu427Phe					CORO2A_ENST00000375077.4_Missense_Mutation_p.L427F	p.L427F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			11	1538	-		Acute lymphoblastic leukemia(62;0.0559)	427					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.1281G>C	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433049	0.25813	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72615	-0.67;-0.67	5.42	-3.21	0.05140	.	2.751080	0.01338	N	0.011473	T	0.54013	0.1832	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26950	-1.0088	10	0.09843	T	0.71	0.7469	3.8745	0.09050	0.0948:0.5144:0.1132:0.2776	.	427;427	Q92828;A8K9S3	COR2A_HUMAN;.	F	427	ENSP00000343746:L427F;ENSP00000364218:L427F	ENSP00000343746:L427F	L	-	3	2	CORO2A	99928817	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.084000	0.11268	-0.634000	0.05538	-0.324000	0.08512	TTG		0.582	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		36	133	0	0	0	1	0	36	133				
PHACTR1	221692	broad.mit.edu	37	6	12749886	12749886	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749886G>A	ENST00000379350.1	+	3	243	c.114G>A	c.(112-114)gcG>gcA	p.A38A	PHACTR1_ENST00000379348.2_Silent_p.A38A|PHACTR1_ENST00000332995.7_Silent_p.A38A			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	38					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCGCCGGGCGACCCTGCTCC	0.677																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(112-114)gcG>gcA		phosphatase and actin regulator 1							19.0	22.0	21.0					6																	12749886		1940	4121	6061	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12749886G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.114G>A	6.37:g.12749886G>A						PHACTR1_ENST00000379348.2_Silent_p.A38A|PHACTR1_ENST00000332995.7_Silent_p.A38A	p.A38A			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		3	243	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	38					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.114G>A		.	.	.	.	.	.	.	.	.	.	G	10.87	1.473766	0.26423	.	.	ENSG00000112137	ENST00000406205	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55354	-0.8154	4	.	.	.	.	13.2218	0.59892	0.0:0.1736:0.8264:0.0	.	.	.	.	N	74	.	.	D	+	1	0	PHACTR1	12857872	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.282000	0.33226	2.152000	0.67230	0.305000	0.20034	GAC		0.677	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	29	0	0	0	1	0	4	29				
RHAG	6005	broad.mit.edu	37	6	49586894	49586894	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:49586894T>A	ENST00000371175.4	-	2	365	c.339A>T	c.(337-339)aaA>aaT	p.K113N	RHAG_ENST00000229810.7_Missense_Mutation_p.K113N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	113					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGCTCACTTTTTGATTCCAA	0.448																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(337-339)aaA>aaT		Rh-associated glycoprotein							119.0	115.0	116.0					6																	49586894		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49586894T>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.339A>T	6.37:g.49586894T>A	ENSP00000360217:p.Lys113Asn					RHAG_ENST00000229810.7_Missense_Mutation_p.K113N	p.K113N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			2	365	-	Lung NSC(77;0.0255)		113					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.339A>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391306	0.42410	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23147	1.92;1.92	5.83	1.87	0.25490	Ammonium transporter AmtB-like (3);	0.651294	0.17795	N	0.161744	T	0.09291	0.0229	L	0.56340	1.77	0.20489	N	0.999894	B;B;B	0.25563	0.022;0.036;0.129	B;B;B	0.25759	0.038;0.063;0.063	T	0.25398	-1.0133	10	0.44086	T	0.13	-6.662	7.943	0.29969	0.0:0.0695:0.3867:0.5438	.	113;113;113	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	N	113	ENSP00000360217:K113N;ENSP00000229810:K113N	ENSP00000229810:K113N	K	-	3	2	RHAG	49694853	0.018000	0.18449	0.953000	0.39169	0.891000	0.51852	0.002000	0.13061	0.068000	0.16574	0.482000	0.46254	AAA		0.448	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			9	30	0	0	0	1	0	9	30				
EXTL2	2135	broad.mit.edu	37	1	101342389	101342389	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101342389G>A	ENST00000370114.3	-	4	1901	c.465C>T	c.(463-465)atC>atT	p.I155I	EXTL2_ENST00000535414.1_Silent_p.I142I|EXTL2_ENST00000370113.3_Silent_p.I155I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	155					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CTGGGGTGCTGATGAGTGTGT	0.348																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(463-465)atC>atT		exostosin-like glycosyltransferase 2							148.0	136.0	140.0					1																	101342389		2203	4299	6502	SO:0001819	synonymous_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101342389G>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.465C>T	1.37:g.101342389G>A						EXTL2_ENST00000535414.1_Silent_p.I142I|EXTL2_ENST00000370113.3_Silent_p.I155I	p.I155I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	4	1901	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	155					B2R795|D3DT60	Silent	SNP	ENST00000370114.3	37	c.465C>T	CCDS775.1																																																																																				0.348	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		18	78	0	0	0	1	0	18	78				
ZNF398	57541	broad.mit.edu	37	7	148876662	148876662	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:148876662C>A	ENST00000475153.1	+	6	1965	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	ZNF398_ENST00000491174.1_Silent_p.P395P|ZNF398_ENST00000420008.2_Silent_p.P395P|ZNF398_ENST00000483892.1_Silent_p.P395P|ZNF398_ENST00000540950.1_Silent_p.P571P|ZNF398_ENST00000335901.4_Silent_p.P395P|ZNF398_ENST00000426851.2_Silent_p.P395P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	566					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGGAGCGGCCCTACCCCTGCT	0.597																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(1183-1185)ccC>ccA		zinc finger protein 398							79.0	76.0	77.0					7																	148876662		2203	4300	6503	SO:0001819	synonymous_variant	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876662C>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1698C>A	7.37:g.148876662C>A						ZNF398_ENST00000335901.4_Silent_p.P395P|ZNF398_ENST00000491174.1_Silent_p.P395P|ZNF398_ENST00000483892.1_Silent_p.P395P|ZNF398_ENST00000540950.1_Silent_p.P571P|ZNF398_ENST00000475153.1_Silent_p.P566P|ZNF398_ENST00000426851.2_Silent_p.P395P	p.P395P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1973	+	Melanoma(164;0.15)		566					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.1185C>A	CCDS5894.1																																																																																				0.597	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			7	104	1	0	2.62144e-13	1	2.7633e-13	7	104				
LEMD2	221496	broad.mit.edu	37	6	33744954	33744954	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33744954C>G	ENST00000293760.5	-	7	1238	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	LEMD2_ENST00000508327.1_Missense_Mutation_p.E105Q|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	407	Poly-Glu.				negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTTGTTCCTCCTCTTCTAAC	0.493																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1219-1221)Gag>Cag		LEM domain containing 2							204.0	218.0	213.0					6																	33744954		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744954C>G		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1219G>C	6.37:g.33744954C>G	ENSP00000293760:p.Glu407Gln					LEMD2_ENST00000508327.1_Missense_Mutation_p.E105Q|LEMD2_ENST00000502643.1_5'UTR	p.E407Q	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			7	1238	-			407			Poly-Glu.		B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1219G>C	CCDS4785.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.73|18.73|18.73	3.687317|3.687317|3.687317	0.68157|0.68157|0.68157	.|.|.	.|.|.	ENSG00000161904|ENSG00000161904|ENSG00000161904	ENST00000293760;ENST00000508327|ENST00000504692|ENST00000442696	.|.|.	.|.|.	.|.|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	Inner nuclear membrane protein MAN1 (1);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000018|.|.	T|T|T	0.72930|0.72930|0.72930	0.3522|0.3522|0.3522	M|M|M	0.73962|0.73962|0.73962	2.25|2.25|2.25	0.47737|0.47737|0.47737	D|D|D	0.999509|0.999509|0.999509	D;D|.|.	0.76494|.|.	0.999;0.999|.|.	D;D|.|.	0.78314|.|.	0.991;0.982|.|.	T|T|T	0.70799|0.70799|0.70799	-0.4774|-0.4774|-0.4774	9|5|5	0.49607|.|.	T|.|.	0.09|.|.	-6.1365|-6.1365|-6.1365	20.0139|20.0139|20.0139	0.97470|0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	407;368|.|.	Q8NC56;A8MS91|.|.	LEMD2_HUMAN;.|.|.	Q|A|S	407;105|54|272	.|.|.	ENSP00000293760:E407Q|.|.	E|G|R	-|-|-	1|2|3	0|0|2	LEMD2|LEMD2|LEMD2	33852932|33852932|33852932	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.517000|0.517000|0.517000	0.34286|0.34286|0.34286	4.711000|4.711000|4.711000	0.61881|0.61881|0.61881	2.724000|2.724000|2.724000	0.93272|0.93272|0.93272	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GGA|AGG		0.493	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		53	221	0	0	0	1	0	53	221				
CAPN3	825	broad.mit.edu	37	15	42652175	42652175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42652175G>C	ENST00000397163.3	+	1	391	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	CAPN3_ENST00000357568.3_Missense_Mutation_p.E58Q|CAPN3_ENST00000349748.3_Missense_Mutation_p.E58Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.E58Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	58					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGGAGTGAAAGAGAAGACATT	0.483																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(172-174)Gag>Cag		calpain 3, (p94)							145.0	163.0	157.0					15																	42652175		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652175G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.172G>C	15.37:g.42652175G>C	ENSP00000380349:p.Glu58Gln					CAPN3_ENST00000318023.7_Missense_Mutation_p.E58Q|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.E58Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.E58Q	p.E58Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	391	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	58					A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.172G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999222	0.54147	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.98	5.98	0.97165	Peptidase C2, calpain, catalytic domain (1);	0.247909	0.32430	U	0.006106	D	0.95614	0.8574	N	0.19112	0.55	0.36521	D	0.870136	P;P;P	0.40970	0.454;0.734;0.615	B;P;B	0.47044	0.363;0.535;0.334	D	0.96981	0.9715	10	0.59425	D	0.04	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	58;58;58	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	Q	58	ENSP00000380349:E58Q;ENSP00000350181:E58Q;ENSP00000183936:E58Q;ENSP00000326281:E58Q	ENSP00000326281:E58Q	E	+	1	0	CAPN3	40439467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.342000	0.52159	2.838000	0.97847	0.655000	0.94253	GAG		0.483	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			55	222	0	0	0	1	0	55	222				
ARHGAP27	201176	broad.mit.edu	37	17	43475401	43475401	+	Missense_Mutation	SNP	C	C	T	rs35717383		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43475401C>T	ENST00000428638.1	-	10	1755	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D245N|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.D364N|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D564N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D218N|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D559N|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D245N			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	586	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCAGAGCCATCTCGGCTCCGT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21216	0.001		0.0	False		,,,				2504	0.0					ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1090-1092)Gat>Aat		Rho GTPase activating protein 27							94.0	80.0	85.0					17																	43475401		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43475401C>T	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1756G>A	17.37:g.43475401C>T	ENSP00000403323:p.Asp586Asn					ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D586N|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D564N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D218N|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D245N|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D245N|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D559N	p.D364N			Q6ZUM4	RHG27_HUMAN			9	1225	-	Renal(3;0.0405)		586					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1090G>A		.	.	.	.	.	.	.	.	.	.	C	12.54	1.967968	0.34754	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	4.72	4.72	0.59763	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.302330	0.35378	N	0.003248	T	0.74261	0.3693	L	0.41573	1.285	0.80722	D	1	B;P;D	0.54397	0.224;0.754;0.966	B;B;P	0.49252	0.108;0.279;0.604	T	0.68957	-0.5272	10	0.14656	T	0.56	.	8.7799	0.34785	0.0:0.8995:0.0:0.1005	.	364;559;586	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	N	364;245;218;564;586;559;245	ENSP00000432762:D364N;ENSP00000366121:D245N;ENSP00000431591:D218N;ENSP00000433942:D564N;ENSP00000403323:D586N;ENSP00000409330:D559N;ENSP00000408235:D245N	ENSP00000366121:D245N	D	-	1	0	ARHGAP27	40831184	0.616000	0.27035	0.997000	0.53966	0.936000	0.57629	1.193000	0.32162	2.462000	0.83206	0.485000	0.47835	GAT		0.592	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		4	69	0	0	0	1	0	4	69				
OR2B2	81697	broad.mit.edu	37	6	27879441	27879441	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:27879441A>G	ENST00000303324.2	-	1	733	c.657T>C	c.(655-657)gcT>gcC	p.A219A		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGACAATAAAAGCATACGATA	0.423																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(655-657)gcT>gcC		olfactory receptor, family 2, subfamily B, member 2							126.0	113.0	118.0					6																	27879441		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879441A>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.657T>C	6.37:g.27879441A>G							p.A219A	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	733	-			219					B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.657T>C	CCDS4641.1																																																																																				0.423	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			4	73	0	0	0	1	0	4	73				
PLAT	5327	broad.mit.edu	37	8	42046580	42046580	+	Missense_Mutation	SNP	C	C	G	rs11537823		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:42046580C>G	ENST00000220809.4	-	4	381	c.125G>C	c.(124-126)aGa>aCa	p.R42T	PLAT_ENST00000519510.1_Missense_Mutation_p.R42T|PLAT_ENST00000429089.2_Missense_Mutation_p.R42T|PLAT_ENST00000524009.1_Missense_Mutation_p.R42T|PLAT_ENST00000429710.2_Missense_Mutation_p.R42T|PLAT_ENST00000270189.6_Missense_Mutation_p.R42T|PLAT_ENST00000352041.3_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	42	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TTTTTCATCTCTGCAGATCAC	0.483																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(124-126)aGa>aCa		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						129.0	126.0	127.0					8																	42046580		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046580C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.125G>C	8.37:g.42046580C>G	ENSP00000220809:p.Arg42Thr					PLAT_ENST00000429089.2_Missense_Mutation_p.R42T|PLAT_ENST00000270189.6_Missense_Mutation_p.R42T|PLAT_ENST00000519510.1_Missense_Mutation_p.R42T|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.R42T|PLAT_ENST00000524009.1_Missense_Mutation_p.R42T	p.R42T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	381	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	42			Fibronectin type-I.|Important for binding to annexin A2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.125G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	3.721	-0.057622	0.07317	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	0.823	0.18812	Fibronectin, type I (4);Complement control module (1);	0.434279	0.24949	N	0.034310	T	0.27594	0.0678	L	0.53249	1.67	0.22457	N	0.999086	B;B;B;B	0.27450	0.179;0.098;0.098;0.001	B;B;B;B	0.27076	0.076;0.076;0.048;0.007	T	0.06844	-1.0804	10	0.21540	T	0.41	.	0.2531	0.00208	0.3229:0.2709:0.1591:0.2471	.	42;42;42;42	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	T	42	ENSP00000270189:R42T;ENSP00000392045:R42T;ENSP00000220809:R42T;ENSP00000428886:R42T;ENSP00000407861:R42T;ENSP00000429401:R42T;ENSP00000428797:R42T;ENSP00000429801:R42T	ENSP00000220809:R42T	R	-	2	0	PLAT	42165737	0.196000	0.23350	0.821000	0.32701	0.146000	0.21551	0.101000	0.15251	0.592000	0.29728	0.650000	0.86243	AGA		0.483	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		32	132	0	0	0	1	0	32	132				
CCDC37	348807	broad.mit.edu	37	3	126138594	126138594	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:126138594C>T	ENST00000352312.1	+	9	945	c.846C>T	c.(844-846)ctC>ctT	p.L282L	CCDC37_ENST00000505024.1_Silent_p.L283L|CCDC37_ENST00000393425.1_Silent_p.L283L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	282										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTCGTTTCTCAAAAAGGCCA	0.473																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(847-849)ctC>ctT		coiled-coil domain containing 37							56.0	59.0	58.0					3																	126138594		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126138594C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.846C>T	3.37:g.126138594C>T						CCDC37_ENST00000505024.1_Silent_p.L283L|CCDC37_ENST00000352312.1_Silent_p.L282L	p.L283L			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	948	+			282					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.849C>T	CCDS3037.1																																																																																				0.473	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		19	68	0	0	0	1	0	19	68				
TTBK1	84630	broad.mit.edu	37	6	43220516	43220516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43220516G>C	ENST00000259750.4	+	3	231	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(148-150)Gag>Cag		tau tubulin kinase 1							75.0	73.0	73.0					6																	43220516		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43220516G>C	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.148G>C	6.37:g.43220516G>C	ENSP00000259750:p.Glu50Gln					TTBK1_ENST00000304139.5_5'UTR	p.E50Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		3	231	+			50			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.148G>C	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578589	0.86645	.	.	ENSG00000146216	ENST00000259750	T	0.19806	2.12	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.26629	0.0651	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03413	-1.1039	10	0.49607	T	0.09	.	15.6708	0.77274	0.0:0.0:1.0:0.0	.	50	Q5TCY1	TTBK1_HUMAN	Q	50	ENSP00000259750:E50Q	ENSP00000259750:E50Q	E	+	1	0	TTBK1	43328494	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	1.983000	0.57843	0.313000	0.20887	GAG		0.592	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			26	98	0	0	0	1	0	26	98				
ZNF585B	92285	broad.mit.edu	37	19	37677947	37677947	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:37677947C>G	ENST00000532828.2	-	5	743	c.492G>C	c.(490-492)ggG>ggC	p.G164G	ZNF585B_ENST00000531805.1_Silent_p.G109G|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAAGCCCTCCCACATTCAA	0.398																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(490-492)ggG>ggC		zinc finger protein 585B							113.0	112.0	112.0					19																	37677947		2203	4300	6503	SO:0001819	synonymous_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677947C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.492G>C	19.37:g.37677947C>G						CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000531805.1_Silent_p.G109G|ZNF585B_ENST00000312908.5_Intron	p.G164G	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	743	-			164					Q8IZD3|Q96JW6	Silent	SNP	ENST00000532828.2	37	c.492G>C	CCDS12500.1																																																																																				0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		29	70	0	0	0	1	0	29	70				
KMT2C	58508	broad.mit.edu	37	7	151879195	151879195	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:151879195C>T	ENST00000262189.6	-	36	5968	c.5750G>A	c.(5749-5751)aGa>aAa	p.R1917K	KMT2C_ENST00000355193.2_Missense_Mutation_p.R1917K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1917	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGCAGAATTTCTTCTGGAAAA	0.483																																						ENST00000355193.2																			0											c.(5749-5751)aGa>aAa		lysine (K)-specific methyltransferase 2C							81.0	84.0	83.0					7																	151879195		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151879195C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5750G>A	7.37:g.151879195C>T	ENSP00000262189:p.Arg1917Lys					KMT2C_ENST00000262189.6_Missense_Mutation_p.R1917K	p.R1917K							36	5968	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5750G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587238	0.46110	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.56103	0.48;0.48	5.41	3.61	0.41365	.	0.000000	0.49305	D	0.000155	T	0.58495	0.2126	L	0.36672	1.1	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.76071	0.97;0.987	T	0.50575	-0.8812	10	0.20046	T	0.44	.	11.7568	0.51880	0.0:0.857:0.0:0.143	.	1917;978	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	K	1917	ENSP00000262189:R1917K;ENSP00000347325:R1917K	ENSP00000262189:R1917K	R	-	2	0	MLL3	151510128	1.000000	0.71417	0.687000	0.30102	0.980000	0.70556	7.818000	0.86416	0.669000	0.31146	0.563000	0.77884	AGA		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	63	0	0	0	1	0	13	63				
CACNA1S	779	broad.mit.edu	37	1	201009439	201009439	+	Nonsense_Mutation	SNP	C	C	A	rs534324858		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201009439C>A	ENST00000362061.3	-	43	5516	c.5290G>T	c.(5290-5292)Gag>Tag	p.E1764*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.E1745*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1764					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGTCTCCTCATGAAGAGAC	0.582																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5290-5292)Gag>Tag		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						37.0	34.0	35.0					1																	201009439		2203	4300	6503	SO:0001587	stop_gained	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009439C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5290G>T	1.37:g.201009439C>A	ENSP00000355192:p.Glu1764*					CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.E1745*|RP11-168O16.2_ENST00000415359.1_RNA	p.E1764*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			43	5516	-			1764					A4IF51|B1ALM2|Q12896|Q13934	Nonsense_Mutation	SNP	ENST00000362061.3	37	c.5290G>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	42	9.368039	0.99150	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.5	0.998	0.19857	.	806.309000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	6.8603	0.24064	0.0:0.5519:0.3383:0.1097	.	.	.	.	X	1764;1745	.	ENSP00000355192:E1764X	E	-	1	0	CACNA1S	199276062	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.145000	0.10265	0.863000	0.35553	0.536000	0.68110	GAG		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	23	1	0	1.23904e-05	1	1.27029e-05	5	23				
ST6GAL1	6480	broad.mit.edu	37	3	186769125	186769125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:186769125G>A	ENST00000169298.3	+	5	1370	c.696G>A	c.(694-696)atG>atA	p.M232I	ST6GAL1_ENST00000457772.2_Start_Codon_SNP_p.M1I|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.M232I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	232					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TTCGCCTGATGAACTCTCAGG	0.458																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(694-696)atG>atA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							104.0	92.0	96.0					3																	186769125		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186769125G>A	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.696G>A	3.37:g.186769125G>A	ENSP00000169298:p.Met232Ile					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.M232I|ST6GAL1_ENST00000457772.2_Start_Codon_SNP_p.M1I	p.M232I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	5	1370	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		232					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.696G>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	4.992	0.184156	0.09495	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000455441;ENST00000427315;ENST00000448044;ENST00000442023	T;T	0.29397	1.57;1.57	5.52	1.3	0.21679	.	0.474941	0.25804	N	0.028184	T	0.08891	0.0220	N	0.04245	-0.25	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16247	-1.0409	10	0.07644	T	0.81	-6.2474	1.0972	0.01676	0.2166:0.1719:0.4352:0.1763	.	232	P15907	SIAT1_HUMAN	I	232;1;1;1;232;1	ENSP00000169298:M232I;ENSP00000389337:M232I	ENSP00000169298:M232I	M	+	3	0	ST6GAL1	188251819	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.277000	0.18734	0.738000	0.32606	0.591000	0.81541	ATG		0.458	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	52	0	0	0	1	0	5	52				
DMXL2	23312	broad.mit.edu	37	15	51787314	51787314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:51787314C>T	ENST00000251076.5	-	19	4977	c.4690G>A	c.(4690-4692)Gag>Aag	p.E1564K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E928K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1564K|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1564						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAACCACACTCATCTAATGTA	0.373																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(4690-4692)Gag>Aag		Dmx-like 2							132.0	119.0	123.0					15																	51787314		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51787314C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4690G>A	15.37:g.51787314C>T	ENSP00000251076:p.Glu1564Lys					DMXL2_ENST00000543779.2_Missense_Mutation_p.E1564K|DMXL2_ENST00000449909.3_Missense_Mutation_p.E928K|RP11-707P17.1_ENST00000561007.1_RNA	p.E1564K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	19	4977	-			1564					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.4690G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618589	0.96649	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.42131	0.98;0.98;0.98	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72220	0.3433	M	0.89414	3.03	0.80722	D	1	D;D;D	0.76494	0.998;0.992;0.999	D;D;D	0.83275	0.937;0.987;0.996	T	0.76677	-0.2871	10	0.72032	D	0.01	.	19.5377	0.95260	0.0:1.0:0.0:0.0	.	1564;928;1564	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	K	1564;1564;928	ENSP00000251076:E1564K;ENSP00000441858:E1564K;ENSP00000400855:E928K	ENSP00000251076:E1564K	E	-	1	0	DMXL2	49574606	1.000000	0.71417	0.924000	0.36721	0.988000	0.76386	7.461000	0.80834	2.718000	0.92993	0.591000	0.81541	GAG		0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		18	59	0	0	0	1	0	18	59				
BCAT1	586	broad.mit.edu	37	12	24995142	24995142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:24995142G>A	ENST00000261192.7	-	7	1217	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.L170F|BCAT1_ENST00000538118.1_Missense_Mutation_p.L230F|BCAT1_ENST00000539282.1_Missense_Mutation_p.L243F|BCAT1_ENST00000539780.1_Missense_Mutation_p.L194F	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	231					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TGGGCAAAAAGAGATGAGCCG	0.438																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(691-693)Ctt>Ttt		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						67.0	65.0	66.0					12																	24995142		1918	4139	6057	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995142G>A		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.691C>T	12.37:g.24995142G>A	ENSP00000261192:p.Leu231Phe					BCAT1_ENST00000538118.1_Missense_Mutation_p.L230F|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.L194F|BCAT1_ENST00000539282.1_Missense_Mutation_p.L243F|BCAT1_ENST00000342945.5_Missense_Mutation_p.L170F	p.L231F	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1217	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		231					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.691C>T	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557883	0.45590	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.15	4.18	0.49190	.	0.171767	0.39475	N	0.001350	T	0.45975	0.1369	L	0.53561	1.675	0.40882	D	0.984002	P;D;P;D;P	0.61080	0.924;0.971;0.872;0.989;0.952	P;P;P;D;P	0.65573	0.776;0.803;0.71;0.936;0.876	T	0.46233	-0.9206	10	0.87932	D	0	-25.8622	10.5164	0.44892	0.0:0.0:0.5572:0.4428	.	194;243;170;231;230	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	F	231;230;170;243;194	ENSP00000261192:L231F;ENSP00000440817:L230F;ENSP00000339805:L170F;ENSP00000443459:L243F;ENSP00000440827:L194F	ENSP00000261192:L231F	L	-	1	0	BCAT1	24886409	0.570000	0.26651	0.887000	0.34795	0.068000	0.16541	0.779000	0.26746	2.400000	0.81607	0.563000	0.77884	CTT		0.438	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		7	42	0	0	0	1	0	7	42				
CCDC66	285331	broad.mit.edu	37	3	56647746	56647746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56647746G>A	ENST00000394672.3	+	11	1604	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	CCDC66_ENST00000436465.2_Missense_Mutation_p.E512K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E478K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	512					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAACAGTATGAAGAAGACAT	0.393																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1534-1536)Gaa>Aaa		coiled-coil domain containing 66							192.0	180.0	184.0					3																	56647746		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647746G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1534G>A	3.37:g.56647746G>A	ENSP00000378167:p.Glu512Lys					CCDC66_ENST00000326595.7_Missense_Mutation_p.E478K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E512K	p.E512K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1604	+			512					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1534G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330989	0.81690	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.31	4.42	0.53409	.	0.244039	0.41823	D	0.000807	T	0.78868	0.4351	M	0.77103	2.36	0.80722	D	1	P	0.52061	0.95	P	0.58391	0.838	T	0.81462	-0.0922	10	0.62326	D	0.03	-17.3076	14.2706	0.66149	0.0:0.1487:0.8513:0.0	.	512	A2RUB6	CCD66_HUMAN	K	468;512;478;512	ENSP00000401451:E468K;ENSP00000378167:E512K;ENSP00000326050:E478K;ENSP00000404320:E512K	ENSP00000326050:E478K	E	+	1	0	CCDC66	56622786	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.917000	0.75782	1.211000	0.43351	0.484000	0.47621	GAA		0.393	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		20	111	0	0	0	1	0	20	111				
NCOA6	23054	broad.mit.edu	37	20	33356328	33356328	+	Silent	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33356328T>A	ENST00000374796.2	-	6	3023	c.453A>T	c.(451-453)ggA>ggT	p.G151G	NCOA6_ENST00000359003.2_Silent_p.G151G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	151	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTCCCATGGGTCCATTCATTC	0.438																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(451-453)ggA>ggT		nuclear receptor coactivator 6							147.0	128.0	134.0					20																	33356328		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33356328T>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.453A>T	20.37:g.33356328T>A						NCOA6_ENST00000359003.2_Silent_p.G151G	p.G151G			Q14686	NCOA6_HUMAN			6	3023	-			151			CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.453A>T	CCDS13241.1																																																																																				0.438	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		18	84	0	0	0	1	0	18	84				
ALYREF	10189	broad.mit.edu	37	17	79846022	79846022	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:79846022C>G	ENST00000331204.4	-	6	786		c.e6-1		ANAPC11_ENST00000571570.1_5'Flank|ALYREF_ENST00000505490.2_Splice_Site|ALYREF_ENST00000512673.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										TGGTGTCCATCTGAAACACAG	0.642																																						ENST00000331204.4																			0											c.e6-1		Aly/REF export factor							80.0	80.0	80.0					17																	79846022		2203	4300	6503	SO:0001630	splice_region_variant	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79846022C>G	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.760-1G>C	17.37:g.79846022C>G						ALYREF_ENST00000505490.2_Splice_Site		NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN			6	786	-								O43672	Splice_Site	SNP	ENST00000331204.4	37			.	.	.	.	.	.	.	.	.	.	C	21.7	4.188627	0.78789	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.24	0.89965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC4	77439318	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.515000	0.73751	2.640000	0.89533	0.467000	0.42956	.		0.642	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782	Intron	10	66	0	0	0	1	0	10	66				
ZNF423	23090	broad.mit.edu	37	16	49670876	49670876	+	Missense_Mutation	SNP	G	G	C	rs138278000		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:49670876G>C	ENST00000561648.1	-	4	2240	c.2187C>G	c.(2185-2187)ttC>ttG	p.F729L	ZNF423_ENST00000562871.1_Missense_Mutation_p.F669L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F729L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F669L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F669L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F612L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F612L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	729					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F729F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTTGGAGTCGAAGACCTCCT	0.567																																						ENST00000561648.1																			2	Substitution - coding silent(2)	p.F729F(2)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2185-2187)ttC>ttG		zinc finger protein 423							101.0	95.0	97.0					16																	49670876		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670876G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2187C>G	16.37:g.49670876G>C	ENSP00000455426:p.Phe729Leu					ZNF423_ENST00000562520.1_Missense_Mutation_p.F669L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F612L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F669L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F729L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F669L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F612L	p.F729L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2240	-		all_cancers(37;0.0155)	729					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2187C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457301	0.43634	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.42131	0.98;0.98	5.05	0.307	0.15811	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.67625	2.065	0.42178	D	0.991675	D	0.89917	1.0	D	0.91635	0.999	T	0.52003	-0.8633	9	.	.	.	-30.1543	8.249	0.31706	0.5135:0.0:0.4865:0.0	.	729	Q2M1K9	ZN423_HUMAN	L	729;612	ENSP00000262383:F729L;ENSP00000442321:F612L	.	F	-	3	2	ZNF423	48228377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.987000	0.29603	0.195000	0.20347	-0.215000	0.12644	TTC		0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	53	0	0	0	1	0	5	53				
LHX9	56956	broad.mit.edu	37	1	197890661	197890661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197890661C>T	ENST00000367387.4	+	3	1030	c.605C>T	c.(604-606)aCg>aTg	p.T202M	LHX9_ENST00000561173.1_Missense_Mutation_p.T208M|LHX9_ENST00000337020.2_Missense_Mutation_p.T202M|LHX9_ENST00000367390.3_Missense_Mutation_p.T193M|LHX9_ENST00000367391.1_Missense_Mutation_p.T193M	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	202					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGAGCTACACGGAGCTGGCG	0.657																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(577-579)aCg>aTg		LIM homeobox 9							39.0	40.0	40.0					1																	197890661		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890661C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.605C>T	1.37:g.197890661C>T	ENSP00000356357:p.Thr202Met					LHX9_ENST00000337020.2_Missense_Mutation_p.T202M|LHX9_ENST00000561173.1_Missense_Mutation_p.T208M|LHX9_ENST00000367391.1_Missense_Mutation_p.T193M|LHX9_ENST00000367387.4_Missense_Mutation_p.T202M	p.T193M	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			4	605	+			202			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.578C>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702552	0.68501	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.88124	0.62;-2.34;0.54;-2.34	5.65	5.65	0.86999	.	0.048980	0.85682	D	0.000000	D	0.87943	0.6305	L	0.40543	1.245	0.58432	D	0.999993	P;P;P	0.45212	0.787;0.749;0.853	B;B;P	0.49597	0.302;0.397;0.616	D	0.86549	0.1833	10	0.42905	T	0.14	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	202;193;193	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	M	193;193;202;202	ENSP00000356361:T193M;ENSP00000356360:T193M;ENSP00000337969:T202M;ENSP00000356357:T202M	ENSP00000337969:T202M	T	+	2	0	LHX9	196157284	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	7.315000	0.78998	2.941000	0.99782	0.655000	0.94253	ACG		0.657	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		8	49	0	0	0	1	0	8	49				
SCAMP2	10066	broad.mit.edu	37	15	75146972	75146972	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:75146972G>T	ENST00000268099.9	-	2	185	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	26					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GCGTTGGTCAGCTGGGTCACA	0.622																																						ENST00000268099.9																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(76-78)Ctg>Atg		secretory carrier membrane protein 2							29.0	37.0	35.0					15																	75146972		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75146972G>T	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.76C>A	15.37:g.75146972G>T	ENSP00000268099:p.Leu26Met						p.L26M	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN			2	185	-			26					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.76C>A	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890518	0.52014	.	.	ENSG00000140497	ENST00000268099	T	0.14266	2.52	5.82	4.9	0.64082	.	0.373840	0.27856	N	0.017567	T	0.11067	0.0270	L	0.34521	1.04	0.42460	D	0.99278	P	0.40660	0.726	B	0.40165	0.321	T	0.02610	-1.1134	10	0.41790	T	0.15	.	8.4648	0.32949	0.0765:0.0:0.7691:0.1543	.	26	O15127	SCAM2_HUMAN	M	26	ENSP00000268099:L26M	ENSP00000268099:L26M	L	-	1	2	SCAMP2	72934025	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.066000	0.50002	2.756000	0.94617	0.561000	0.74099	CTG		0.622	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		3	20	1	0	2.56e-06	1	2.63903e-06	3	20				
MUC16	94025	broad.mit.edu	37	19	9033703	9033703	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9033703G>A	ENST00000397910.4	-	9	36437	c.36234C>T	c.(36232-36234)ctC>ctT	p.L12078L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12080	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGAAGTTGAGGGTGAATG	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36232-36234)ctC>ctT		mucin 16, cell surface associated							134.0	131.0	132.0					19																	9033703		2110	4234	6344	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033703G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36234C>T	19.37:g.9033703G>A							p.L12078L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			9	36437	-			12080			SEA 1.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36234C>T	CCDS54212.1																																																																																				0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	83	0	0	0	1	0	4	83				
LOH12CR1	118426	broad.mit.edu	37	12	12514243	12514243	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514243C>G	ENST00000314565.4	+	2	493	c.162C>G	c.(160-162)atC>atG	p.I54M	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.I35M|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	54										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGATGTCATCAAGTTGCAAG	0.488																																						ENST00000314565.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(160-162)atC>atG		loss of heterozygosity, 12, chromosomal region 1							193.0	175.0	181.0					12																	12514243		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514243C>G	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.162C>G	12.37:g.12514243C>G	ENSP00000321546:p.Ile54Met					LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.I35M	p.I54M	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	493	+		Prostate(47;0.0802)	54					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.162C>G	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278191	0.59758	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.32753	1.46;1.44	6.02	5.14	0.70334	.	0.042140	0.85682	D	0.000000	T	0.35682	0.0940	M	0.61703	1.905	0.39112	D	0.96148	P	0.51351	0.944	P	0.45881	0.496	T	0.33189	-0.9878	10	0.51188	T	0.08	-3.0908	10.7045	0.45948	0.1321:0.7988:0.0:0.0691	.	54	Q969J3	L12R1_HUMAN	M	35;54	ENSP00000443023:I35M;ENSP00000321546:I54M	ENSP00000321546:I54M	I	+	3	3	LOH12CR1	12405510	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.983000	0.49345	1.567000	0.49668	0.655000	0.94253	ATC		0.488	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			28	70	0	0	0	1	0	28	70				
FAM126A	84668	broad.mit.edu	37	7	22999885	22999885	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:22999885C>G	ENST00000432176.2	-	10	1213	c.981G>C	c.(979-981)tgG>tgC	p.W327C	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Missense_Mutation_p.W327C	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	327					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CATGTCTTTTCCACCTATGAC	0.358																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(979-981)tgG>tgC		family with sequence similarity 126, member A							302.0	271.0	281.0					7																	22999885		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22999885C>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.981G>C	7.37:g.22999885C>G	ENSP00000403396:p.Trp327Cys					FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Missense_Mutation_p.W327C	p.W327C	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			10	1213	-			327					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.981G>C	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.4|21.4	4.138753|4.138753	0.77775|0.77775	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000440481|ENST00000432176;ENST00000409923	.|T;T	.|0.77877	.|-1.13;-1.13	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.051431	.|0.85682	.|D	.|0.000000	D|D	0.88426|0.88426	0.6433|0.6433	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89045|0.89045	0.3451|0.3451	5|10	.|0.72032	.|D	.|0.01	-20.553|-20.553	19.4647|19.4647	0.94932|0.94932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|327	.|Q9BYI3	.|HYCCI_HUMAN	A|C	379|327	.|ENSP00000403396:W327C;ENSP00000386246:W327C	.|ENSP00000386246:W327C	G|W	-|-	2|3	0|0	FAM126A|FAM126A	22966410|22966410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.159000|7.159000	0.77483|0.77483	2.681000|2.681000	0.91329|0.91329	0.645000|0.645000	0.84053|0.84053	GGA|TGG		0.358	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		29	137	0	0	0	1	0	29	137				
NOC2L	26155	broad.mit.edu	37	1	892378	892378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:892378C>G	ENST00000327044.6	-	4	431	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	128					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTCCTTCCTCCGCTCCATCC	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(382-384)Gag>Cag		nucleolar complex associated 2 homolog (S. cerevisiae)							127.0	131.0	129.0					1																	892378		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:892378C>G	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.382G>C	1.37:g.892378C>G	ENSP00000317992:p.Glu128Gln					NOC2L_ENST00000487214.1_5'UTR	p.E128Q	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	431	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	128					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.382G>C	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956035	0.18507	.	.	ENSG00000188976	ENST00000327044	T	0.25912	1.77	0.884	0.884	0.19182	.	0.099352	0.39341	U	0.001397	T	0.20700	0.0498	L	0.46614	1.455	0.09310	N	1	P;D	0.54397	0.791;0.966	B;P	0.44860	0.273;0.462	T	0.10474	-1.0628	10	0.38643	T	0.18	-4.2872	6.7444	0.23453	0.0:0.8151:0.0:0.1849	.	128;128	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	Q	128	ENSP00000317992:E128Q	ENSP00000317992:E128Q	E	-	1	0	NOC2L	882241	0.045000	0.20229	0.002000	0.10522	0.018000	0.09664	1.304000	0.33482	0.778000	0.33520	0.651000	0.88453	GAG		0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		31	131	0	0	0	1	0	31	131				
EFCAB11	90141	broad.mit.edu	37	14	90420300	90420300	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:90420300C>G	ENST00000316738.7	-	2	149	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	TDP1_ENST00000393454.2_5'Flank|TDP1_ENST00000393452.3_5'Flank|EFCAB11_ENST00000555872.1_Missense_Mutation_p.E17Q|TDP1_ENST00000335725.4_5'Flank|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000538485.2_Missense_Mutation_p.E41Q|EFCAB11_ENST00000556609.1_5'UTR|EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000556005.1_Missense_Mutation_p.E17Q|TDP1_ENST00000357382.3_5'Flank	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						TTAAAGTCCTCTCTGCTGAGA	0.358																																						ENST00000316738.7																			0				large_intestine(1)|lung(1)	2						c.(121-123)Gag>Cag		EF-hand calcium binding domain 11							119.0	115.0	117.0					14																	90420300		2203	4300	6503	SO:0001583	missense	90141						calcium ion binding	g.chr14:90420300C>G	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.121G>C	14.37:g.90420300C>G	ENSP00000326267:p.Glu41Gln					EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000555872.1_Missense_Mutation_p.E17Q|EFCAB11_ENST00000556609.1_5'UTR|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Missense_Mutation_p.E17Q|EFCAB11_ENST00000538485.2_Missense_Mutation_p.E41Q	p.E41Q	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN			2	149	-			41			EF-hand 1.		B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	c.121G>C	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637997	0.87760	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000538485;ENST00000556005	T;T;T;T	0.73047	-0.56;-0.56;2.81;-0.71	5.8	5.8	0.92144	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.994	D;D;D;P	0.77004	0.989;0.943;0.955;0.899	T	0.81897	-0.0722	10	0.56958	D	0.05	-26.3467	20.0545	0.97645	0.0:1.0:0.0:0.0	.	41;17;41;17	B7Z5G9;Q9BUY7-3;Q9BUY7;Q9BUY7-2	.;.;EFC11_HUMAN;.	Q	41;17;41;17	ENSP00000326267:E41Q;ENSP00000452320:E17Q;ENSP00000438072:E41Q;ENSP00000452143:E17Q	ENSP00000326267:E41Q	E	-	1	0	EFCAB11	89490053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.126000	0.71635	2.748000	0.94277	0.655000	0.94253	GAG		0.358	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231		14	42	0	0	0	1	0	14	42				
KIAA1033	23325	broad.mit.edu	37	12	105509444	105509444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105509444G>A	ENST00000332180.5	+	6	460	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TACAGCTACAGATGCCAGCAT	0.313																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(373-375)Gat>Aat		KIAA1033							177.0	165.0	169.0					12																	105509444		1836	4082	5918	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105509444G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.373G>A	12.37:g.105509444G>A	ENSP00000328062:p.Asp125Asn						p.D125N	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			6	460	+			125						Missense_Mutation	SNP	ENST00000332180.5	37	c.373G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	7.889	0.731867	0.15507	.	.	ENSG00000136051	ENST00000332180	T	0.31769	1.48	6.02	5.12	0.69794	.	0.227054	0.51477	N	0.000086	T	0.27098	0.0664	L	0.44542	1.39	0.44711	D	0.997708	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.03166	-1.1065	10	0.21014	T	0.42	.	13.7081	0.62653	0.0623:0.0:0.8256:0.1121	.	125;125	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	125	ENSP00000328062:D125N	ENSP00000328062:D125N	D	+	1	0	KIAA1033	104033574	1.000000	0.71417	0.999000	0.59377	0.152000	0.21847	6.412000	0.73303	0.893000	0.36288	-0.813000	0.03139	GAT		0.313	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		32	84	0	0	0	1	0	32	84				
MKRN3	7681	broad.mit.edu	37	15	23811455	23811455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:23811455G>A	ENST00000314520.3	+	1	1002	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	176					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTCGGCTGCTGAAAGGGGTTT	0.607																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(526-528)Gaa>Aaa		makorin ring finger protein 3							25.0	28.0	27.0					15																	23811455		2202	4300	6502	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811455G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.526G>A	15.37:g.23811455G>A	ENSP00000313881:p.Glu176Lys					MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.E176K	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1002	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	176						Missense_Mutation	SNP	ENST00000314520.3	37	c.526G>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126015	0.56721	.	.	ENSG00000179455	ENST00000314520	T	0.32988	1.43	3.99	3.03	0.35002	.	0.746506	0.12462	N	0.466784	T	0.21590	0.0520	L	0.39898	1.24	0.51233	D	0.999915	P	0.37061	0.58	B	0.32090	0.14	T	0.03453	-1.1035	10	0.22706	T	0.39	.	9.4987	0.39004	0.0:0.2155:0.7845:0.0	.	176	Q13064	MKRN3_HUMAN	K	176	ENSP00000313881:E176K	ENSP00000313881:E176K	E	+	1	0	MKRN3	21362548	0.976000	0.34144	0.571000	0.28486	0.571000	0.35966	3.239000	0.51360	1.220000	0.43490	0.655000	0.94253	GAA		0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		8	41	0	0	0	1	0	8	41				
SNAI3	333929	broad.mit.edu	37	16	88747560	88747560	+	Silent	SNP	G	G	A	rs552553600		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:88747560G>A	ENST00000332281.5	-	2	725	c.639C>T	c.(637-639)atC>atT	p.I213I	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	213					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCTTGCCACAGATCTTGCAGG	0.617																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(637-639)atC>atT		snail family zinc finger 3							103.0	90.0	94.0					16																	88747560		2198	4300	6498	SO:0001819	synonymous_variant	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747560G>A	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.639C>T	16.37:g.88747560G>A						SNAI3-AS1_ENST00000563261.1_RNA	p.I213I	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	725	-			213					Q86SU5	Silent	SNP	ENST00000332281.5	37	c.639C>T	CCDS32505.1																																																																																				0.617	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			10	150	0	0	0	1	0	10	150				
SYNE1	23345	broad.mit.edu	37	6	152485448	152485448	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152485448C>T	ENST00000367255.5	-	131	24241	c.23640G>A	c.(23638-23640)ctG>ctA	p.L7880L	SYNE1_ENST00000265368.4_Silent_p.L7880L|SYNE1_ENST00000341594.5_Silent_p.L7492L|SYNE1_ENST00000539504.1_Silent_p.L35L|SYNE1_ENST00000356820.4_Silent_p.L2404L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.L7809L|SYNE1_ENST00000448038.1_Silent_p.L7809L|SYNE1_ENST00000354674.4_Silent_p.L35L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7880					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTCTCCTTCAGCTTCTTCA	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23638-23640)ctG>ctA		spectrin repeat containing, nuclear envelope 1							62.0	58.0	60.0					6																	152485448		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152485448C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23640G>A	6.37:g.152485448C>T		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.L7809L|SYNE1_ENST00000341594.5_Silent_p.L7492L|SYNE1_ENST00000539504.1_Silent_p.L35L|SYNE1_ENST00000354674.4_Silent_p.L35L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.L2404L|SYNE1_ENST00000265368.4_Silent_p.L7880L|SYNE1_ENST00000448038.1_Silent_p.L7809L	p.L7880L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	131	24241	-		Ovarian(120;0.0955)	7880					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23640G>A	CCDS5236.2																																																																																				0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	56	0	0	0	1	0	12	56				
NR2C2AP	126382	broad.mit.edu	37	19	19312802	19312802	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:19312802C>G	ENST00000331552.7	-	5	715	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.E118Q	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	118					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GTGGCATCCTCAAACGTCACC	0.577																																						ENST00000331552.6																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(352-354)Gag>Cag		nuclear receptor 2C2-associated protein							100.0	88.0	92.0					19																	19312802		2203	4300	6503	SO:0001583	missense	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19312802C>G	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.352G>C	19.37:g.19312802C>G	ENSP00000332823:p.Glu118Gln					NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.E118Q|NR2C2AP_ENST00000590907.2_5'UTR	p.E118Q	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		5	715	-			118					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.352G>C	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095879	0.76870	.	.	ENSG00000184162	ENST00000331552;ENST00000420605	T;T	0.63580	-0.05;-0.05	5.29	5.29	0.74685	Galactose-binding domain-like (1);	0.127370	0.51477	D	0.000098	T	0.64405	0.2595	L	0.55834	1.745	0.80722	D	1	P	0.48589	0.912	P	0.50109	0.631	T	0.58399	-0.7643	10	0.20519	T	0.43	-34.6939	14.3066	0.66389	0.0:1.0:0.0:0.0	.	118	Q86WQ0	NR2CA_HUMAN	Q	118	ENSP00000332823:E118Q;ENSP00000402756:E118Q	ENSP00000332823:E118Q	E	-	1	0	NR2C2AP	19173802	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	6.094000	0.71431	2.756000	0.94617	0.561000	0.74099	GAG		0.577	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		11	71	0	0	0	1	0	11	71				
WIF1	11197	broad.mit.edu	37	12	65471538	65471538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:65471538G>C	ENST00000286574.4	-	3	759	c.385C>G	c.(385-387)Cac>Gac	p.H129D		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	129	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GATGCCTTGTGAGGCACTGTT	0.443			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(385-387)Cac>Gac		WNT inhibitory factor 1							111.0	93.0	99.0					12																	65471538		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65471538G>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.385C>G	12.37:g.65471538G>C	ENSP00000286574:p.His129Asp						p.H129D	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	3	759	-			129			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.385C>G	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451619	0.84209	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.35	5.35	0.76521	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	L	0.40543	1.245	0.58432	D	0.999999	D	0.63880	0.993	D	0.79784	0.993	T	0.50558	-0.8814	9	.	.	.	.	19.4405	0.94817	0.0:0.0:1.0:0.0	.	129	Q9Y5W5	WIF1_HUMAN	D	129;67	ENSP00000286574:H129D;ENSP00000442063:H67D	.	H	-	1	0	WIF1	63757805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.700000	0.84556	2.689000	0.91719	0.650000	0.86243	CAC		0.443	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			4	29	0	0	0	1	0	4	29				
GJA10	84694	broad.mit.edu	37	6	90605134	90605134	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:90605134C>G	ENST00000369352.1	+	1	947	c.947C>G	c.(946-948)tCc>tGc	p.S316C	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTAGACCCTTCCAATGGGAAA	0.498																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(946-948)tCc>tGc		gap junction protein, alpha 10, 62kDa							71.0	68.0	69.0					6																	90605134		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605134C>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.947C>G	6.37:g.90605134C>G	ENSP00000358358:p.Ser316Cys						p.S316C	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	947	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	316					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.947C>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	2.418	-0.333700	0.05278	.	.	ENSG00000135355	ENST00000369352	D	0.97710	-4.5	5.08	3.23	0.37069	.	0.612938	0.14682	N	0.304699	D	0.82586	0.5069	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.78183	-0.2303	10	0.44086	T	0.13	.	6.8854	0.24197	0.1978:0.5574:0.2448:0.0	.	316	Q969M2	CXA10_HUMAN	C	316	ENSP00000358358:S316C	ENSP00000358358:S316C	S	+	2	0	GJA10	90661855	0.000000	0.05858	0.066000	0.19879	0.436000	0.31835	0.600000	0.24104	1.391000	0.46566	0.563000	0.77884	TCC		0.498	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		9	47	0	0	0	1	0	9	47				
TACC2	10579	broad.mit.edu	37	10	123970668	123970668	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123970668G>A	ENST00000369005.1	+	9	7068	c.6728G>A	c.(6727-6729)gGg>gAg	p.G2243E	TACC2_ENST00000334433.3_Missense_Mutation_p.G2243E|TACC2_ENST00000368999.1_Missense_Mutation_p.G321E|TACC2_ENST00000260733.3_Missense_Mutation_p.G321E|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.G2247E|TACC2_ENST00000369004.3_Missense_Mutation_p.G321E|TACC2_ENST00000513429.1_Missense_Mutation_p.G389E|TACC2_ENST00000515273.1_Missense_Mutation_p.G2247E|TACC2_ENST00000360561.3_Missense_Mutation_p.G321E|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G2198E|TACC2_ENST00000358010.1_Missense_Mutation_p.G389E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2243					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGGAGGCAGGGGAGGTAACC	0.612																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6727-6729)gGg>gAg		transforming, acidic coiled-coil containing protein 2							34.0	39.0	37.0					10																	123970668		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970668G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6728G>A	10.37:g.123970668G>A	ENSP00000358001:p.Gly2243Glu					TACC2_ENST00000260733.3_Missense_Mutation_p.G321E|TACC2_ENST00000368999.1_Missense_Mutation_p.G321E|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G2198E|TACC2_ENST00000334433.3_Missense_Mutation_p.G2243E|TACC2_ENST00000513429.1_Missense_Mutation_p.G389E|TACC2_ENST00000369004.3_Missense_Mutation_p.G321E|TACC2_ENST00000358010.1_Missense_Mutation_p.G389E|TACC2_ENST00000515273.1_Missense_Mutation_p.G2247E|TACC2_ENST00000360561.3_Missense_Mutation_p.G321E|TACC2_ENST00000453444.2_Missense_Mutation_p.G2247E|TACC2_ENST00000369001.1_5'UTR	p.G2243E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7068	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2243					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6728G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	8.954	0.969011	0.18659	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18016	4.04;3.6;4.06;4.06;4.04;3.6;4.06;3.47;3.47;3.48;3.47;3.1;2.24	5.54	-5.34	0.02705	.	1.480950	0.04812	N	0.435407	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	P;P;B;B;P;B;B;B;P	0.37330	0.546;0.59;0.258;0.415;0.59;0.068;0.068;0.404;0.565	B;B;B;B;B;B;B;B;B	0.38562	0.148;0.276;0.087;0.201;0.201;0.135;0.135;0.208;0.201	T	0.18903	-1.0322	10	0.02654	T	1	0.3007	3.7759	0.08660	0.0972:0.256:0.4208:0.226	.	338;2247;321;2198;2247;321;321;389;2243	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	E	2243;389;2247;2198;2243;389;2247;2233;321;321;321;321;338;84	ENSP00000358001:G2243E;ENSP00000425062:G389E;ENSP00000424467:G2247E;ENSP00000427618:G2198E;ENSP00000334280:G2243E;ENSP00000350701:G389E;ENSP00000395048:G2247E;ENSP00000353763:G321E;ENSP00000357995:G321E;ENSP00000422815:G321E;ENSP00000260733:G321E;ENSP00000420967:G338E;ENSP00000426303:G84E	ENSP00000260733:G321E	G	+	2	0	TACC2	123960658	0.001000	0.12720	0.001000	0.08648	0.517000	0.34286	-1.219000	0.02973	-1.368000	0.02149	-1.028000	0.02416	GGG		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	57	0	0	0	1	0	12	57				
RETSAT	54884	broad.mit.edu	37	2	85573134	85573134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:85573134C>T	ENST00000295802.4	-	6	1193	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	RETSAT_ENST00000457495.2_Missense_Mutation_p.E300K|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.E361K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGTAGGTGTTCATAGGTGTTG	0.582																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1081-1083)Gaa>Aaa		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						144.0	127.0	133.0					2																	85573134		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573134C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1081G>A	2.37:g.85573134C>T	ENSP00000295802:p.Glu361Lys					RETSAT_ENST00000263854.6_Missense_Mutation_p.E361K|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.E300K	p.E361K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			6	1193	-			361					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1081G>A	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.537530|2.537530	0.45176|0.45176	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375	T;T|.	0.21734|.	2.01;1.99|.	5.4|5.4	-3.86|-3.86	0.04230|0.04230	.|.	0.755105|.	0.12851|.	N|.	0.433940|.	T|T	0.25754|0.25754	0.0627|0.0627	N|N	0.20845|0.20845	0.615|0.615	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.002;0.001|.	B;B;B|.	0.12156|.	0.007;0.007;0.002|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.12430|.	T|.	0.62|.	-7.5615|-7.5615	9.5555|9.5555	0.39337|0.39337	0.0:0.2081:0.6082:0.1836|0.0:0.2081:0.6082:0.1836	.|.	300;300;361|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	K|I	361;361;300|149	ENSP00000295802:E361K;ENSP00000405040:E300K|.	ENSP00000263854:E361K|.	E|M	-|-	1|3	0|0	RETSAT|RETSAT	85426645|85426645	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.441000|0.441000	0.31987|0.31987	-0.059000|-0.059000	0.11731|0.11731	-1.273000|-1.273000	0.02424|0.02424	0.467000|0.467000	0.42956|0.42956	GAA|ATG		0.582	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		28	147	0	0	0	1	0	28	147				
PTK7	5754	broad.mit.edu	37	6	43098305	43098305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43098305G>A	ENST00000230419.4	+	5	939	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PTK7_ENST00000345201.2_Missense_Mutation_p.E240K|PTK7_ENST00000352931.2_Missense_Mutation_p.E240K|PTK7_ENST00000349241.2_Missense_Mutation_p.E240K|PTK7_ENST00000481273.1_Missense_Mutation_p.E248K|PTK7_ENST00000471863.1_Missense_Mutation_p.E240K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	240	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGAGGTATGAGGAGGCCAT	0.597																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(718-720)Gag>Aag		protein tyrosine kinase 7							100.0	79.0	86.0					6																	43098305		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43098305G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.718G>A	6.37:g.43098305G>A	ENSP00000230419:p.Glu240Lys					PTK7_ENST00000352931.2_Missense_Mutation_p.E240K|PTK7_ENST00000349241.2_Missense_Mutation_p.E240K|PTK7_ENST00000471863.1_Missense_Mutation_p.E240K|PTK7_ENST00000345201.2_Missense_Mutation_p.E240K|PTK7_ENST00000481273.1_Missense_Mutation_p.E248K	p.E240K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		5	939	+			240			Ig-like C2-type 3.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.718G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539932	0.45176	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.75704	4.69;4.69;4.69;-0.96;-0.96;4.69	5.78	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044569	0.85682	D	0.000000	T	0.81754	0.4889	M	0.76328	2.33	0.58432	D	0.999999	B;D;P;D;P;D	0.67145	0.054;0.985;0.849;0.957;0.881;0.996	B;D;P;P;P;D	0.72625	0.069;0.912;0.812;0.81;0.799;0.978	D	0.84397	0.0558	10	0.59425	D	0.04	.	14.8949	0.70636	0.0685:0.0:0.9315:0.0	.	248;240;240;240;240;240	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	K	240;240;240;240;240;248;248	ENSP00000230419:E240K;ENSP00000419037:E240K;ENSP00000325462:E240K;ENSP00000326029:E240K;ENSP00000325992:E240K;ENSP00000418754:E248K	ENSP00000230418:E240K	E	+	1	0	PTK7	43206283	1.000000	0.71417	0.836000	0.33094	0.826000	0.46750	8.106000	0.89555	1.450000	0.47717	0.563000	0.77884	GAG		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			8	35	0	0	0	1	0	8	35				
PAPLN	89932	broad.mit.edu	37	14	73733290	73733290	+	Silent	SNP	C	C	T	rs376299144		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:73733290C>T	ENST00000554301.1	+	23	3508	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	PAPLN_ENST00000427855.1_Silent_p.F1115F|PAPLN_ENST00000555445.1_Silent_p.F1099F|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Silent_p.F1088F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1115	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGTCGCTTTCAATGGGCAGG	0.592																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(3343-3345)ttC>ttT		papilin, proteoglycan-like sulfated glycoprotein							86.0	76.0	80.0					14																	73733290		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73733290C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3345C>T	14.37:g.73733290C>T						PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Silent_p.F1088F|PAPLN_ENST00000555445.1_Silent_p.F1099F|PAPLN_ENST00000554301.1_Silent_p.F1115F	p.F1115F			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	24	3447	+			1115			Ig-like C2-type 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.3345C>T																																																																																					0.592	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		20	77	0	0	0	1	0	20	77				
BMPER	168667	broad.mit.edu	37	7	34125424	34125424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:34125424C>T	ENST00000297161.2	+	14	1839	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	BMPER_ENST00000426693.1_Missense_Mutation_p.L489F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCGCCGCATCTCAAGGGCAA	0.438																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1465-1467)Ctc>Ttc		BMP binding endothelial regulator							119.0	105.0	110.0					7																	34125424		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125424C>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1465C>T	7.37:g.34125424C>T	ENSP00000297161:p.Leu489Phe					BMPER_ENST00000426693.1_Missense_Mutation_p.L489F	p.L489F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			14	1839	+			489			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1465C>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526904	0.64860	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59772	0.24;0.24	6.08	6.08	0.98989	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	N	0.11789	0.175	0.80722	D	1	P	0.49635	0.926	P	0.47891	0.56	T	0.47686	-0.9098	10	0.32370	T	0.25	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	489	Q8N8U9	BMPER_HUMAN	F	489	ENSP00000297161:L489F;ENSP00000393950:L489F	ENSP00000297161:L489F	L	+	1	0	BMPER	34091949	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.589000	0.53972	2.894000	0.99253	0.655000	0.94253	CTC		0.438	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		12	47	0	0	0	1	0	12	47				
IPO7	10527	broad.mit.edu	37	11	9462025	9462025	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462025G>A	ENST00000379719.3	+	23	2861	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	907	Asp-rich.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGAAGATGATATTGATGA	0.373																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2719-2721)Gat>Aat		importin 7							101.0	95.0	97.0					11																	9462025		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9462025G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2719G>A	11.37:g.9462025G>A	ENSP00000369042:p.Asp907Asn						p.D907N	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	23	2861	+			907			Asp-rich.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2719G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590462	0.96590	.	.	ENSG00000205339	ENST00000379719	T	0.42513	0.97	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.69823	2.125	0.80722	D	1	P	0.42203	0.773	P	0.48627	0.584	T	0.56056	-0.8042	10	0.51188	T	0.08	.	20.039	0.97573	0.0:0.0:1.0:0.0	.	907	O95373	IPO7_HUMAN	N	907	ENSP00000369042:D907N	ENSP00000369042:D907N	D	+	1	0	IPO7	9418601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.701000	0.98710	2.808000	0.96608	0.552000	0.68991	GAT		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		15	61	0	0	0	1	0	15	61				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			283651							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			7	14	1	0	0.27861	1	0.278909	7	14				
RPL27	6155	broad.mit.edu	37	17	41154916	41154916	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41154916C>T	ENST00000589913.1	+	4	664	c.390C>T	c.(388-390)ttC>ttT	p.F130F	RPL27_ENST00000253788.5_Silent_p.F130F|RPL27_ENST00000589037.1_Silent_p.F130F|RPL27_ENST00000590864.1_Silent_p.F74F			P61353	RL27_HUMAN	ribosomal protein L27	130					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAAGTGGTTCTTCCAGAAAC	0.368																																						ENST00000589913.1																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(388-390)ttC>ttT		ribosomal protein L27							157.0	165.0	162.0					17																	41154916		2203	4300	6503	SO:0001819	synonymous_variant	6155				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome	g.chr17:41154916C>T		CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"""L ribosomal proteins"""	10328	protein-coding gene	gene with protein product	"""60S ribosomal protein L27"""	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.390C>T	17.37:g.41154916C>T						RPL27_ENST00000590864.1_Silent_p.F74F|RPL27_ENST00000589037.1_Silent_p.F130F|RPL27_ENST00000253788.5_Silent_p.F130F	p.F130F			P61353	RL27_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	4	664	+		Breast(137;0.000717)|Ovarian(249;0.0776)	130					P08526|Q4G0A9	Silent	SNP	ENST00000589913.1	37	c.390C>T	CCDS11449.1																																																																																				0.368	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452472.1	NM_000988		5	185	0	0	0	1	0	5	185				
GC	2638	broad.mit.edu	37	4	72629139	72629139	+	Silent	SNP	C	C	T	rs111261486	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:72629139C>T	ENST00000273951.8	-	6	1030	c.687G>A	c.(685-687)aaG>aaA	p.K229K	GC_ENST00000513476.1_Silent_p.K229K|GC_ENST00000504199.1_Silent_p.K248K|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	229	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GCCTTGATTTCTTCTCCCCAT	0.363																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(685-687)aaG>aaA		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)	C	,,	0,4406		0,0,2203	120.0	112.0	115.0		687,687,744	3.9	1.0	4	dbSNP_132	115	23,8577	16.0+/-53.3	0,23,4277	no	coding-synonymous,coding-synonymous,coding-synonymous	GC	NM_000583.3,NM_001204306.1,NM_001204307.1	,,	0,23,6480	TT,TC,CC		0.2674,0.0,0.1768	,,	229/475,229/475,248/494	72629139	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629139C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.687G>A	4.37:g.72629139C>T						GC_ENST00000504199.1_Silent_p.K248K|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.K229K	p.K229K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		6	1030	-		all_hematologic(202;0.107)	229			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.687G>A	CCDS3550.1																																																																																				0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			12	56	0	0	0	1	0	12	56				
CGGBP1	8545	broad.mit.edu	37	3	88104670	88104670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:88104670C>G	ENST00000398392.2	-	1	1789	c.457G>C	c.(457-459)Gat>Cat	p.D153H	CGGBP1_ENST00000462901.1_Missense_Mutation_p.D153H|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D153H|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D153H			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	153					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TCATATCCATCAGGAAGATAT	0.448																																						ENST00000398392.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(457-459)Gat>Cat		CGG triplet repeat binding protein 1							132.0	124.0	127.0					3																	88104670		1946	4156	6102	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104670C>G	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.457G>C	3.37:g.88104670C>G	ENSP00000381429:p.Asp153His					CGGBP1_ENST00000309534.6_Missense_Mutation_p.D153H|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D153H|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D153H	p.D153H			Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	1	1789	-		Lung NSC(201;0.0283)	153					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.457G>C	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074731	0.55646	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.7	5.7	0.88788	.	0.000000	0.40385	U	0.001117	T	0.63510	0.2517	N	0.19112	0.55	0.46521	D	0.999087	D	0.76494	0.999	D	0.72982	0.979	T	0.64466	-0.6401	9	0.45353	T	0.12	-20.2881	17.0533	0.86525	0.0:1.0:0.0:0.0	.	153	Q9UFW8	CGBP1_HUMAN	H	153	.	ENSP00000381428:D153H	D	-	1	0	CGGBP1	88187360	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.914000	0.63348	2.711000	0.92665	0.650000	0.86243	GAT		0.448	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		9	47	0	0	0	1	0	9	47				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	12	0	0	0	1	0	4	12				
PRPF39	55015	broad.mit.edu	37	14	45564603	45564603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:45564603C>G	ENST00000355765.6	+	2	331	c.161C>G	c.(160-162)tCt>tGt	p.S54C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	54					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GTGAATGCATCTACAGAAGAA	0.408																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(160-162)tCt>tGt		pre-mRNA processing factor 39							82.0	82.0	82.0					14																	45564603		2071	4231	6302	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45564603C>G	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.161C>G	14.37:g.45564603C>G	ENSP00000348010:p.Ser54Cys						p.S54C	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			2	331	+			54					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.161C>G	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416809	0.25552	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T	0.46063	0.88	5.81	4.85	0.62838	.	.	.	.	.	T	0.38825	0.1055	N	0.22421	0.69	0.09310	N	1	B	0.24963	0.115	B	0.36378	0.223	T	0.42447	-0.9451	9	0.59425	D	0.04	-25.5515	15.885	0.79241	0.1766:0.8234:0.0:0.0	.	54	Q86UA1	PRP39_HUMAN	C	54	ENSP00000348010:S54C	ENSP00000348010:S54C	S	+	2	0	PRPF39	44634353	0.016000	0.18221	0.888000	0.34837	0.983000	0.72400	1.386000	0.34419	2.759000	0.94783	0.591000	0.81541	TCT		0.408	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			17	64	0	0	0	1	0	17	64				
SUN3	256979	broad.mit.edu	37	7	48034039	48034039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:48034039G>A	ENST00000297325.4	-	8	893	c.734C>T	c.(733-735)tCc>tTc	p.S245F	SUN3_ENST00000395572.2_Missense_Mutation_p.S245F|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000453192.2_Missense_Mutation_p.S233F|SUN3_ENST00000412142.1_Missense_Mutation_p.S145F	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	245	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGACCCTGGGAACCTGGAAA	0.453																																						ENST00000453192.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(697-699)tCc>tTc		Sad1 and UNC84 domain containing 3							155.0	150.0	152.0					7																	48034039		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48034039G>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.734C>T	7.37:g.48034039G>A	ENSP00000297325:p.Ser245Phe					SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Missense_Mutation_p.S145F|SUN3_ENST00000297325.4_Missense_Mutation_p.S245F|SUN3_ENST00000395572.2_Missense_Mutation_p.S245F	p.S233F			Q8TAQ9	SUN3_HUMAN			9	941	-			245			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.698C>T	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499701|3.499701	0.64298|0.64298	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000453071|ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	.|T;T;T;T;T;T	.|0.52983	.|0.64;0.64;0.64;0.64;0.64;0.64	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Sad1/UNC-like, C-terminal (2);	.|0.311519	.|0.35291	.|N	.|0.003301	T|T	0.66655|0.66655	0.2811|0.2811	M|M	0.62154|0.62154	1.92|1.92	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.75484	.|0.986;0.974;0.979	T|T	0.67345|0.67345	-0.5694|-0.5694	5|10	.|0.56958	.|D	.|0.05	.|.	16.9474|16.9474	0.86233|0.86233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|233;145;245	.|E7EWC8;Q8TAQ9-2;Q8TAQ9	.|.;.;SUN3_HUMAN	S|F	169|245;67;145;245;233;145	.|ENSP00000297325:S245F;ENSP00000406887:S67F;ENSP00000410204:S145F;ENSP00000378939:S245F;ENSP00000387525:S233F;ENSP00000409077:S145F	.|ENSP00000297325:S245F	P|S	-|-	1|2	0|0	SUN3|SUN3	48000564|48000564	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.663000|0.663000	0.39108|0.39108	4.256000|4.256000	0.58810|0.58810	2.602000|2.602000	0.87976|0.87976	0.551000|0.551000	0.68910|0.68910	CCC|TCC		0.453	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		26	112	0	0	0	1	0	26	112				
GOLGA7B	401647	broad.mit.edu	37	10	99623701	99623701	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:99623701C>G	ENST00000370602.1	+	3	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	51						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						AGCGGCAGCTCTTTGAAGAGA	0.602																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(151-153)ctC>ctG		golgin A7 family, member B							52.0	55.0	54.0					10																	99623701		2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99623701C>G	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.153C>G	10.37:g.99623701C>G							p.L51L	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			3	218	+			51					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.153C>G	CCDS31265.1																																																																																				0.602	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		4	77	0	0	0	1	0	4	77				
GPATCH1	55094	broad.mit.edu	37	19	33604789	33604789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:33604789C>G	ENST00000170564.2	+	14	2323	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	670					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAAAAAGTATCACAGCACCGA	0.522																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(2008-2010)tCa>tGa		G patch domain containing 1							71.0	67.0	68.0					19																	33604789		2203	4300	6503	SO:0001587	stop_gained	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604789C>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2009C>G	19.37:g.33604789C>G	ENSP00000170564:p.Ser670*						p.S670*	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			14	2323	+	Esophageal squamous(110;0.137)		670					Q8IZV6|Q8N3B7|Q9NW94	Nonsense_Mutation	SNP	ENST00000170564.2	37	c.2009C>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	38	7.162430	0.98107	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.86	1.38	0.22167	.	0.711077	0.14463	N	0.318068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	0.014	5.7724	0.18261	0.2295:0.5104:0.0:0.2602	.	.	.	.	X	670	.	ENSP00000170564:S670X	S	+	2	0	GPATCH1	38296629	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.260000	0.18424	0.063000	0.16370	-0.229000	0.12294	TCA		0.522	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	40	0	0	0	1	0	3	40				
NAB1	4664	broad.mit.edu	37	2	191537844	191537844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:191537844G>C	ENST00000337386.5	+	6	1432	c.971G>C	c.(970-972)aGa>aCa	p.R324T	NAB1_ENST00000409581.1_Missense_Mutation_p.R324T|NAB1_ENST00000484774.1_Intron|NAB1_ENST00000409641.1_Missense_Mutation_p.R324T|NAB1_ENST00000545490.1_Missense_Mutation_p.R94T|NAB1_ENST00000357215.5_Missense_Mutation_p.R324T	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	324	Necessary for nuclear localization. {ECO:0000250}.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGTGGAGAAAGAGATGAATTA	0.323																																						ENST00000337386.5																			0				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(970-972)aGa>aCa		NGFI-A binding protein 1 (EGR1 binding protein 1)							182.0	190.0	188.0					2																	191537844		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191537844G>C		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.971G>C	2.37:g.191537844G>C	ENSP00000336894:p.Arg324Thr					NAB1_ENST00000545490.1_Missense_Mutation_p.R94T|NAB1_ENST00000357215.5_Missense_Mutation_p.R324T|NAB1_ENST00000409581.1_Missense_Mutation_p.R324T|NAB1_ENST00000409641.1_Missense_Mutation_p.R324T|NAB1_ENST00000484774.1_Intron	p.R324T	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		6	1432	+			324			Necessary for nuclear localization (By similarity).		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.971G>C	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.80|19.80	3.894190|3.894190	0.72639|0.72639	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000434473|ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490	.|.	.|.	.|.	5.0|5.0	4.12|4.12	0.48240|0.48240	.|Nab1, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46639|0.46639	0.1403|0.1403	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999995|0.999995	.|P;P;P	.|0.47484	.|0.728;0.896;0.896	.|P;P;P	.|0.51550	.|0.447;0.673;0.673	T|T	0.26087|0.26087	-1.0113|-1.0113	5|9	.|0.12766	.|T	.|0.61	-20.2693|-20.2693	12.6542|12.6542	0.56778|0.56778	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|324;324;324	.|F8W8J7;B8ZZS2;Q13506	.|.;.;NAB1_HUMAN	N|T	106|324;324;324;324;94	.|.	.|ENSP00000336894:R324T	K|R	+|+	3|2	2|0	NAB1|NAB1	191246089|191246089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.542000|6.542000	0.73869|0.73869	1.475000|1.475000	0.48197|0.48197	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.323	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		10	55	0	0	0	1	0	10	55				
CXCL2	2920	broad.mit.edu	37	4	74964368	74964368	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74964368G>C	ENST00000508487.2	-	3	430	c.258C>G	c.(256-258)ctC>ctG	p.L86L	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	86					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to molecule of bacterial origin (GO:0002237)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			ATGCGGGGTTGAGACAAGCTT	0.502																																						ENST00000508487.2																			0				lung(1)	1						c.(256-258)ctC>ctG		chemokine (C-X-C motif) ligand 2							129.0	125.0	126.0					4																	74964368		2203	4300	6503	SO:0001819	synonymous_variant	2920				chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity	g.chr4:74964368G>C	M36820	CCDS34008.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000081041		"""Endogenous ligands"""	4603	protein-coding gene	gene with protein product		139110	"""GRO2 oncogene"""	GRO2		2217207	Standard	NM_002089		Approved	SCYB2, GROb, MIP-2a, MGSA-b, CINC-2a	uc003hhm.4	P19875		ENST00000508487.2:c.258C>G	4.37:g.74964368G>C						CXCL2_ENST00000296031.4_5'UTR	p.L86L	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	all cancers(17;0.00317)|Lung(101;0.196)		3	430	-	Breast(15;0.00612)		86					Q6FGD6|Q9UPB8	Silent	SNP	ENST00000508487.2	37	c.258C>G	CCDS34008.1																																																																																				0.502	CXCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362731.2	NM_002089		19	82	0	0	0	1	0	19	82				
FAM171B	165215	broad.mit.edu	37	2	187627362	187627362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:187627362G>A	ENST00000304698.5	+	8	2496	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	765						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCACATCCTAGATGGAGGGAG	0.488																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2293-2295)Gat>Aat		family with sequence similarity 171, member B							71.0	73.0	72.0					2																	187627362		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627362G>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2293G>A	2.37:g.187627362G>A	ENSP00000304108:p.Asp765Asn						p.D765N	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2496	+			765					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2293G>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006875	0.74932	.	.	ENSG00000144369	ENST00000304698	T	0.36699	1.24	6.02	6.02	0.97574	.	0.147918	0.64402	D	0.000011	T	0.41213	0.1149	L	0.52573	1.65	0.49213	D	0.999762	P;P	0.35493	0.505;0.505	B;B	0.42319	0.383;0.383	T	0.30736	-0.9968	10	0.87932	D	0	-18.9359	13.7061	0.62639	0.07:0.0:0.93:0.0	.	765;766	Q6P995;A8K122	F171B_HUMAN;.	N	765	ENSP00000304108:D765N	ENSP00000304108:D765N	D	+	1	0	FAM171B	187335607	1.000000	0.71417	0.968000	0.41197	0.917000	0.54804	7.421000	0.80204	2.850000	0.98022	0.650000	0.86243	GAT		0.488	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		26	42	0	0	0	1	0	26	42				
TMEM61	199964	broad.mit.edu	37	1	55452026	55452026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:55452026C>T	ENST00000371268.3	+	2	546	c.272C>T	c.(271-273)gCc>gTc	p.A91V	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	91						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TCCGTCAAGGCCAGCATCCCA	0.637																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(271-273)gCc>gTc		transmembrane protein 61							107.0	108.0	108.0					1																	55452026		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55452026C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.272C>T	1.37:g.55452026C>T	ENSP00000360315:p.Ala91Val					RP11-12C17.2_ENST00000436960.1_RNA	p.A91V	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			2	546	+			91						Missense_Mutation	SNP	ENST00000371268.3	37	c.272C>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	C	6.122	0.390795	0.11581	.	.	ENSG00000143001	ENST00000371268	T	0.42131	0.98	4.8	-0.536	0.11876	.	0.272716	0.25932	N	0.027372	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	B	0.22909	0.077	B	0.20767	0.031	T	0.07195	-1.0785	10	0.33141	T	0.24	-2.9355	1.8981	0.03261	0.1431:0.4928:0.1309:0.2332	.	91	Q8N0U2	TMM61_HUMAN	V	91	ENSP00000360315:A91V	ENSP00000360315:A91V	A	+	2	0	TMEM61	55224614	0.611000	0.26992	0.000000	0.03702	0.002000	0.02628	0.899000	0.28417	-0.267000	0.09325	-0.136000	0.14681	GCC		0.637	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		56	179	0	0	0	1	0	56	179				
RCL1	10171	broad.mit.edu	37	9	4844556	4844556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:4844556G>A	ENST00000381750.4	+	7	965	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RCL1_ENST00000381730.1_Missense_Mutation_p.E62K|RCL1_ENST00000381728.1_Missense_Mutation_p.E62K|RCL1_ENST00000448872.2_Missense_Mutation_p.E62K	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	248					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		ACTGGTTGCTGAGACCACCAG	0.567																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(742-744)Gag>Aag		RNA terminal phosphate cyclase-like 1							108.0	109.0	108.0					9																	4844556		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4844556G>A	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.742G>A	9.37:g.4844556G>A	ENSP00000371169:p.Glu248Lys					RCL1_ENST00000448872.2_Missense_Mutation_p.E62K|RCL1_ENST00000381730.1_Missense_Mutation_p.E62K|RCL1_ENST00000381728.1_Missense_Mutation_p.E62K	p.E248K	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	7	965	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	248					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.742G>A	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	36	5.830680	0.96996	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	6.17	6.17	0.99709	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.099126	0.64402	D	0.000002	D	0.85860	0.5795	M	0.90145	3.09	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.69479	0.964;0.94	D	0.86440	0.1766	9	0.59425	D	0.04	-36.1534	20.8794	0.99867	0.0:0.0:1.0:0.0	.	62;248	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	K	248;90;62;62;62;62	.	ENSP00000371147:E62K	E	+	1	0	RCL1	4834556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.567	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		36	124	0	0	0	1	0	36	124				
RASAL3	64926	broad.mit.edu	37	19	15574877	15574877	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15574877G>A	ENST00000343625.7	-	2	378	c.293C>T	c.(292-294)cCg>cTg	p.P98L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	98	Pro-rich.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GTCTGGCTCCGGCGGTGGGTT	0.652																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(292-294)cCg>cTg		RAS protein activator like 3							15.0	17.0	16.0					19																	15574877		1960	4153	6113	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574877G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.293C>T	19.37:g.15574877G>A	ENSP00000341905:p.Pro98Leu						p.P98L	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			2	373	-			98			Pro-rich.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.293C>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.090511	0.00367	.	.	ENSG00000105122	ENST00000343625	T	0.22336	1.96	4.08	-5.27	0.02763	.	0.377363	0.14541	N	0.313297	T	0.02688	0.0081	N	0.00246	-1.78	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.02654	T	1	.	4.7193	0.12910	0.2606:0.0:0.4642:0.2751	.	98	Q86YV0	RASL3_HUMAN	L	98	ENSP00000341905:P98L	ENSP00000341905:P98L	P	-	2	0	RASAL3	15435877	0.000000	0.05858	0.020000	0.16555	0.059000	0.15707	-1.142000	0.03203	-1.133000	0.02903	0.313000	0.20887	CCG		0.652	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		6	22	0	0	0	1	0	6	22				
RCN1	5954	broad.mit.edu	37	11	32124996	32124996	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:32124996G>A	ENST00000054950.3	+	5	1151	c.858G>A	c.(856-858)agG>agA	p.R286R	RCN1_ENST00000532942.1_Silent_p.R235R|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	286	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CTGAGGCCAGGCATCTGGTAT	0.433																																						ENST00000054950.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17						c.(856-858)agG>agA		reticulocalbin 1, EF-hand calcium binding domain							86.0	88.0	87.0					11																	32124996		2202	4299	6501	SO:0001819	synonymous_variant	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32124996G>A	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.858G>A	11.37:g.32124996G>A						RCN1_ENST00000532942.1_Silent_p.R235R|RP1-65P5.3_ENST00000533009.1_RNA	p.R286R	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN			5	1151	+	Lung SC(675;0.225)		286			EF-hand 6.		B7Z1M1|D3DR00	Silent	SNP	ENST00000054950.3	37	c.858G>A	CCDS7876.1																																																																																				0.433	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		17	69	0	0	0	1	0	17	69				
IARS	3376	broad.mit.edu	37	9	95043133	95043133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:95043133C>A	ENST00000375643.3	-	7	906	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Nonsense_Mutation_p.E214*|IARS_ENST00000447699.2_Nonsense_Mutation_p.E104*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	214					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTTTCATCTTCTTCCAAAGGG	0.358																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(640-642)Gaa>Taa		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						92.0	85.0	87.0					9																	95043133		2203	4300	6503	SO:0001587	stop_gained	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043133C>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.640G>T	9.37:g.95043133C>A	ENSP00000364794:p.Glu214*					IARS_ENST00000447699.2_Nonsense_Mutation_p.E104*|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Nonsense_Mutation_p.E214*	p.E214*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			7	906	-			214					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Nonsense_Mutation	SNP	ENST00000375643.3	37	c.640G>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	37	6.451922	0.97577	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	.	.	.	5.55	5.55	0.83447	.	0.212006	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-24.2178	18.6371	0.91383	0.0:1.0:0.0:0.0	.	.	.	.	X	214;214;104;214;214	.	ENSP00000364794:E214X	E	-	1	0	IARS	94082954	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.595000	0.82710	2.773000	0.95371	0.655000	0.94253	GAA		0.358	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		4	35	1	0	0.150653	1	0.151301	4	35				
SDK1	221935	broad.mit.edu	37	7	3991489	3991489	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:3991489G>C	ENST00000404826.2	+	7	1226	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E363Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATACGTCTGCGAGGCGGCGCT	0.602																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1087-1089)Gag>Cag		sidekick cell adhesion molecule 1							46.0	48.0	47.0					7																	3991489		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991489G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1087G>C	7.37:g.3991489G>C	ENSP00000385899:p.Glu363Gln					SDK1_ENST00000389531.3_Missense_Mutation_p.E363Q	p.E363Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1226	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	363			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1087G>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668743	0.47677	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.03035	4.07;4.07	4.87	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000002	T	0.15652	0.0377	M	0.71206	2.165	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	T	0.13522	-1.0506	10	0.17369	T	0.5	.	16.5463	0.84446	0.0:0.0:1.0:0.0	.	363	Q7Z5N4	SDK1_HUMAN	Q	363	ENSP00000385899:E363Q;ENSP00000374182:E363Q	ENSP00000374182:E363Q	E	+	1	0	SDK1	3958015	1.000000	0.71417	0.992000	0.48379	0.161000	0.22273	7.393000	0.79851	2.410000	0.81850	0.655000	0.94253	GAG		0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		24	55	0	0	0	1	0	24	55				
KLHL5	51088	broad.mit.edu	37	4	39105062	39105062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39105062G>C	ENST00000504108.1	+	7	1877	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	KLHL5_ENST00000381930.3_Missense_Mutation_p.E532Q|KLHL5_ENST00000261426.5_Missense_Mutation_p.E471Q|KLHL5_ENST00000508137.2_Missense_Mutation_p.E345Q|KLHL5_ENST00000359687.2_Missense_Mutation_p.E532Q|KLHL5_ENST00000261425.3_Missense_Mutation_p.E486Q	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	532						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAATACTGTAGAGTGCTACAA	0.428																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1456-1458)Gag>Cag		kelch-like family member 5							148.0	139.0	142.0					4																	39105062		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39105062G>C	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1594G>C	4.37:g.39105062G>C	ENSP00000423897:p.Glu532Gln					KLHL5_ENST00000504108.1_Missense_Mutation_p.E532Q|KLHL5_ENST00000381930.3_Missense_Mutation_p.E532Q|KLHL5_ENST00000508137.2_Missense_Mutation_p.E345Q|KLHL5_ENST00000261426.5_Missense_Mutation_p.E471Q|KLHL5_ENST00000359687.2_Missense_Mutation_p.E532Q	p.E486Q	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			8	1608	+			532					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1456G>C	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.535872|4.535872	0.85812|0.85812	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147|ENST00000515612	D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	5.66|5.66	4.8|4.8	0.61643|0.61643	Galactose oxidase, beta-propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82486|0.82486	0.5047|0.5047	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.979;0.998;0.996|.	D|D	0.85585|0.85585	0.1242|0.1242	10|5	0.87932|.	D|.	0|.	.|.	16.7434|16.7434	0.85465|0.85465	0.0:0.1293:0.8707:0.0|0.0:0.1293:0.8707:0.0	.|.	471;532;532|.	F8WAE7;Q96PQ7;Q96PQ7-2|.	.;KLHL5_HUMAN;.|.	Q|T	566;486;345;532;532;532;471;126|43	ENSP00000261425:E486Q;ENSP00000423080:E345Q;ENSP00000423897:E532Q;ENSP00000352716:E532Q;ENSP00000371355:E532Q;ENSP00000261426:E471Q|.	ENSP00000261425:E486Q|.	E|R	+|+	1|2	0|0	KLHL5|KLHL5	38781457|38781457	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.428	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			16	77	0	0	0	1	0	16	77				
USB1	79650	broad.mit.edu	37	16	58051337	58051337	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:58051337C>G	ENST00000539737.2	+	4	628	c.549C>G	c.(547-549)ttC>ttG	p.F183L	USB1_ENST00000561743.1_Missense_Mutation_p.F150L|USB1_ENST00000219281.3_Missense_Mutation_p.F201L|USB1_ENST00000565662.1_3'UTR	NM_001195302.1	NP_001182231.1			U6 snRNA biogenesis 1																		TCACCACTTTCTACCAGGTAA	0.483																																						ENST00000219281.3																			0											c.(601-603)ttC>ttG		U6 snRNA biogenesis 1							131.0	109.0	116.0					16																	58051337		2198	4300	6498	SO:0001583	missense	79650							g.chr16:58051337C>G	AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000539737.2:c.549C>G	16.37:g.58051337C>G	ENSP00000446143:p.Phe183Leu					USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.F150L|USB1_ENST00000539737.2_Missense_Mutation_p.F183L	p.F201L	NM_024598.3	NP_078874.2					5	714	+									Missense_Mutation	SNP	ENST00000539737.2	37	c.603C>G	CCDS55998.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843677	0.91197	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737	T;T	0.49432	0.78;0.78	5.24	5.24	0.73138	.	0.049633	0.85682	D	0.000000	T	0.69771	0.3148	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	T	0.68891	-0.5289	10	0.28530	T	0.3	-19.1382	16.0378	0.80642	0.0:1.0:0.0:0.0	.	183;201	B4DZW5;Q9BQ65	.;CP057_HUMAN	L	201;149;183	ENSP00000219281:F201L;ENSP00000446143:F183L	ENSP00000219281:F201L	F	+	3	2	C16orf57	56608838	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.547000	0.45786	2.456000	0.83038	0.650000	0.86243	TTC		0.483	USB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000429947.1	NM_024598		11	45	0	0	0	1	0	11	45				
PLEKHA5	54477	broad.mit.edu	37	12	19436611	19436611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:19436611G>C	ENST00000299275.6	+	11	1699	c.1693G>C	c.(1693-1695)Gaa>Caa	p.E565Q	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E571Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E323Q|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E565Q	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	565					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTACAGATCGGAAGTGTCTTC	0.458																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1693-1695)Gaa>Caa		pleckstrin homology domain containing, family A member 5							58.0	58.0	58.0					12																	19436611		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436611G>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1693G>C	12.37:g.19436611G>C	ENSP00000299275:p.Glu565Gln					PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E571Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E323Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E565Q	p.E565Q	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1697	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		565					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1693G>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985768	0.35036	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	3.84	3.84	0.44239	.	0.053381	0.64402	D	0.000001	T	0.37265	0.0997	M	0.73962	2.25	0.33521	D	0.592402	D;D;D;D;D;D;D	0.89917	0.988;1.0;1.0;1.0;0.999;1.0;1.0	P;D;D;D;D;D;D	0.85130	0.883;0.982;0.959;0.997;0.993;0.959;0.992	T	0.53351	-0.8451	10	0.44086	T	0.13	-14.0143	16.3276	0.82990	0.0:0.0:1.0:0.0	.	565;457;457;571;571;565;565	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	Q	565;565;565;572;565;571;565;323;565;457;457;457	ENSP00000325155:E565Q;ENSP00000347560:E565Q;ENSP00000352104:E565Q;ENSP00000311239:E565Q;ENSP00000404296:E571Q;ENSP00000299275:E565Q;ENSP00000440611:E323Q;ENSP00000439673:E565Q;ENSP00000400411:E457Q;ENSP00000439837:E457Q;ENSP00000440371:E457Q	ENSP00000299275:E565Q	E	+	1	0	PLEKHA5	19327878	1.000000	0.71417	0.187000	0.23214	0.196000	0.23810	6.775000	0.75018	2.132000	0.65825	0.655000	0.94253	GAA		0.458	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		14	44	0	0	0	1	0	14	44				
ANGEL2	90806	broad.mit.edu	37	1	213186679	213186679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:213186679C>G	ENST00000366962.3	-	2	295	c.141G>C	c.(139-141)tgG>tgC	p.W47C	ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	47										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGTCTGTTCCAGCAACACC	0.453																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(139-141)tgG>tgC		angel homolog 2 (Drosophila)							147.0	144.0	145.0					1																	213186679		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186679C>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.141G>C	1.37:g.213186679C>G	ENSP00000355929:p.Trp47Cys					ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	p.W47C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	295	-			47					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.141G>C	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353200	0.61293	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.23754	1.89	5.53	5.53	0.82687	.	0.198070	0.48286	D	0.000198	T	0.34193	0.0889	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.987	P;P	0.58820	0.846;0.57	T	0.07616	-1.0763	10	0.72032	D	0.01	-12.7405	16.8105	0.85717	0.0:0.8716:0.1284:0.0	.	25;47	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	C	47;25	ENSP00000355929:W47C	ENSP00000309755:W25C	W	-	3	0	ANGEL2	211253302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.186000	0.42593	2.745000	0.94114	0.563000	0.77884	TGG		0.453	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		33	142	0	0	0	1	0	33	142				
SPTBN5	51332	broad.mit.edu	37	15	42153688	42153688	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42153688G>A	ENST00000320955.6	-	46	7971	c.7744C>T	c.(7744-7746)Ctg>Ttg	p.L2582L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2582					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGAGCTCAGAAACAGCTGA	0.557																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7744-7746)Ctg>Ttg		spectrin, beta, non-erythrocytic 5							62.0	63.0	63.0					15																	42153688		1995	4174	6169	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42153688G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7744C>T	15.37:g.42153688G>A							p.L2582L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	46	7971	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2582						Silent	SNP	ENST00000320955.6	37	c.7744C>T																																																																																					0.557	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		18	59	0	0	0	1	0	18	59				
TRPC5	7224	broad.mit.edu	37	X	111025357	111025357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:111025357C>T	ENST00000262839.2	-	8	2824	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	636					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTCGATATCAGCATGATCC	0.433																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1906-1908)Gat>Aat		transient receptor potential cation channel, subfamily C, member 5							83.0	74.0	77.0					X																	111025357		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025357C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1906G>A	X.37:g.111025357C>T	ENSP00000262839:p.Asp636Asn						p.D636N	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			8	2824	-			636					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1906G>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404911	0.96051	.	.	ENSG00000072315	ENST00000262839	D	0.87491	-2.26	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96029	0.9015	10	0.87932	D	0	-10.232	18.3953	0.90496	0.0:1.0:0.0:0.0	.	637;636	Q59G51;Q9UL62	.;TRPC5_HUMAN	N	636	ENSP00000262839:D636N	ENSP00000262839:D636N	D	-	1	0	TRPC5	110912013	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.286000	0.76751	0.415000	0.27848	GAT		0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		17	19	0	0	0	1	0	17	19				
GJA5	2702	broad.mit.edu	37	1	147230401	147230401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:147230401G>A	ENST00000271348.2	-	2	1107	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	GJA5_ENST00000369237.1_Missense_Mutation_p.R316C|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	316					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGGCCATAACGAACCTGGATG	0.537																																						ENST00000271348.2																			1	Substitution - Missense(1)	p.R316C(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(946-948)Cgt>Tgt		gap junction protein, alpha 5, 40kDa							149.0	136.0	141.0					1																	147230401		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230401G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.946C>T	1.37:g.147230401G>A	ENSP00000271348:p.Arg316Cys					GJA5_ENST00000369237.1_Missense_Mutation_p.R316C|RP11-433J22.2_ENST00000428911.1_RNA	p.R316C	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1107	-	all_hematologic(923;0.0276)		316					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.946C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	4.608	0.113026	0.08831	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.81908	-1.55;-1.55	5.38	4.46	0.54185	.	1.312490	0.05046	N	0.477147	T	0.60521	0.2275	L	0.36672	1.1	0.09310	N	1	D	0.56968	0.978	B	0.36504	0.226	T	0.54951	-0.8216	10	0.51188	T	0.08	.	8.7881	0.34835	0.0:0.1227:0.5866:0.2907	.	316	P36382	CXA5_HUMAN	C	316	ENSP00000271348:R316C;ENSP00000358240:R316C	ENSP00000271348:R316C	R	-	1	0	GJA5	145697025	0.338000	0.24775	0.002000	0.10522	0.010000	0.07245	2.401000	0.44513	1.482000	0.48325	-0.175000	0.13238	CGT		0.537	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		27	83	0	0	0	1	0	27	83				
ABI1	10006	broad.mit.edu	37	10	27037639	27037639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27037639C>T	ENST00000376142.2	-	12	1458	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	ABI1_ENST00000376166.1_Missense_Mutation_p.D401N|ABI1_ENST00000376140.3_Missense_Mutation_p.D436N|ABI1_ENST00000355394.4_Missense_Mutation_p.D464N|ABI1_ENST00000490841.2_Missense_Mutation_p.D284N|ABI1_ENST00000376170.4_Missense_Mutation_p.D406N|ABI1_ENST00000376138.3_Missense_Mutation_p.D407N|ABI1_ENST00000346832.5_Missense_Mutation_p.D451N|ABI1_ENST00000376139.2_Missense_Mutation_p.D431N|ABI1_ENST00000536334.1_Missense_Mutation_p.D349N|ABI1_ENST00000376160.1_Missense_Mutation_p.D430N|ABI1_ENST00000376134.3_Missense_Mutation_p.D437N|ABI1_ENST00000359188.4_Missense_Mutation_p.D435N|ABI1_ENST00000376137.4_Missense_Mutation_p.D378N	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	463	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACAGCTCATCATCCTTGTCT	0.348																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1390-1392)Gat>Aat		abl-interactor 1							98.0	80.0	86.0					10																	27037639		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27037639C>T	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1387G>A	10.37:g.27037639C>T	ENSP00000365312:p.Asp463Asn					ABI1_ENST00000376160.1_Missense_Mutation_p.D430N|ABI1_ENST00000376166.1_Missense_Mutation_p.D401N|ABI1_ENST00000536334.1_Missense_Mutation_p.D349N|ABI1_ENST00000490841.2_Missense_Mutation_p.D284N|ABI1_ENST00000376138.3_Missense_Mutation_p.D407N|ABI1_ENST00000376170.4_Missense_Mutation_p.D406N|ABI1_ENST00000376140.3_Missense_Mutation_p.D436N|ABI1_ENST00000376137.4_Missense_Mutation_p.D378N|ABI1_ENST00000376139.2_Missense_Mutation_p.D431N|ABI1_ENST00000359188.4_Missense_Mutation_p.D435N|ABI1_ENST00000346832.5_Missense_Mutation_p.D451N|ABI1_ENST00000376134.3_Missense_Mutation_p.D437N|ABI1_ENST00000376142.2_Missense_Mutation_p.D463N	p.D464N			Q8IZP0	ABI1_HUMAN			12	1613	-			463			SH3.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.1390G>A	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999267	0.93227	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38722	2.01;2.01;2.01;1.12;1.12;1.12;1.12;1.12;2.01;1.12;1.12;2.01;1.12;1.12	5.57	4.67	0.58626	Src homology-3 domain (5);	0.088003	0.85682	D	0.000000	T	0.48502	0.1503	N	0.17248	0.465	0.42234	D	0.991902	P;P;P;P;P;D;P;B;D;D;P;D;D	0.89917	0.905;0.77;0.77;0.884;0.513;0.971;0.95;0.298;0.968;1.0;0.896;0.997;1.0	P;P;B;P;P;D;P;P;P;D;P;D;D	0.97110	0.454;0.454;0.378;0.457;0.842;0.972;0.688;0.479;0.863;0.999;0.784;0.992;1.0	T	0.54470	-0.8289	10	0.52906	T	0.07	-15.8016	14.7459	0.69490	0.0:0.9302:0.0:0.0698	.	348;377;284;343;273;401;431;435;451;407;431;436;463	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	N	407;406;401;430;463;435;431;464;451;437;378;349;284;436	ENSP00000365308:D407N;ENSP00000365340:D406N;ENSP00000365336:D401N;ENSP00000365330:D430N;ENSP00000365312:D463N;ENSP00000352114:D435N;ENSP00000365309:D431N;ENSP00000347555:D464N;ENSP00000279599:D451N;ENSP00000365304:D437N;ENSP00000365307:D378N;ENSP00000439646:D349N;ENSP00000440101:D284N;ENSP00000365310:D436N	ENSP00000279599:D451N	D	-	1	0	ABI1	27077645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.494000	0.48533	0.655000	0.94253	GAT		0.348	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		11	29	0	0	0	1	0	11	29				
LAMA3	3909	broad.mit.edu	37	18	21422397	21422397	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21422397C>A	ENST00000313654.9	+	28	3616	c.3375C>A	c.(3373-3375)ggC>ggA	p.G1125G	LAMA3_ENST00000399516.3_Silent_p.G1125G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1125	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACACCTGGGCCGATACGTCT	0.512																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3373-3375)ggC>ggA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						104.0	103.0	104.0					18																	21422397		1976	4142	6118	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21422397C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3375C>A	18.37:g.21422397C>A						LAMA3_ENST00000399516.3_Silent_p.G1125G	p.G1125G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			28	3616	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1125			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3375C>A	CCDS42419.1																																																																																				0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	69	1	0	0.000442599	1	0.000449327	9	69				
KRT39	390792	broad.mit.edu	37	17	39120018	39120018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39120018G>C	ENST00000355612.2	-	3	604	c.569C>G	c.(568-570)tCt>tGt	p.S190C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	190	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGCGTAGAGACACCTCAGC	0.498																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(568-570)tCt>tGt		keratin 39							96.0	87.0	90.0					17																	39120018		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39120018G>C	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.569C>G	17.37:g.39120018G>C	ENSP00000347823:p.Ser190Cys					AC004231.2_ENST00000418393.1_RNA	p.S190C	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			3	604	-		Breast(137;0.00043)|Ovarian(249;0.15)	190			Coil 1B.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.569C>G	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093824	0.36952	.	.	ENSG00000196859	ENST00000355612	D	0.89343	-2.5	5.65	5.65	0.86999	Filament (1);	0.000000	0.42682	D	0.000680	D	0.94009	0.8081	M	0.85299	2.745	0.28280	N	0.92401	D	0.89917	1.0	D	0.83275	0.996	D	0.89587	0.3825	10	0.72032	D	0.01	.	9.2561	0.37584	0.0764:0.1471:0.7765:0.0	.	190	Q6A163	K1C39_HUMAN	C	190	ENSP00000347823:S190C	ENSP00000347823:S190C	S	-	2	0	KRT39	36373544	0.000000	0.05858	0.983000	0.44433	0.109000	0.19521	0.417000	0.21214	2.677000	0.91161	0.650000	0.86243	TCT		0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		11	50	0	0	0	1	0	11	50				
BEST3	144453	broad.mit.edu	37	12	70087539	70087539	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:70087539G>A	ENST00000330891.5	-	4	622	c.396C>T	c.(394-396)gtC>gtT	p.V132V	BEST3_ENST00000553096.1_Silent_p.V26V|BEST3_ENST00000266661.4_Silent_p.V26V|BEST3_ENST00000331471.4_Silent_p.V132V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.V26V|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000551160.1_Silent_p.V26V	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTGAGATTGACGTAGCGCA	0.532																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(394-396)gtC>gtT		bestrophin 3							143.0	114.0	124.0					12																	70087539		2203	4300	6503	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70087539G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.396C>T	12.37:g.70087539G>A						BEST3_ENST00000551160.1_Silent_p.V26V|BEST3_ENST00000553096.1_Silent_p.V26V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.V26V|BEST3_ENST00000331471.4_Silent_p.V132V|BEST3_ENST00000266661.4_Silent_p.V26V	p.V132V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		4	622	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		132					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.396C>T	CCDS8992.2																																																																																				0.532	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		15	81	0	0	0	1	0	15	81				
PHACTR1	221692	broad.mit.edu	37	6	12749926	12749926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749926G>A	ENST00000379350.1	+	3	283	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PHACTR1_ENST00000379348.2_Missense_Mutation_p.E52K|PHACTR1_ENST00000332995.7_Missense_Mutation_p.E52K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	52					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCATCCTCGGAGGATGATAT	0.642																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(154-156)Gag>Aag		phosphatase and actin regulator 1							23.0	29.0	27.0					6																	12749926		1914	4124	6038	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12749926G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.154G>A	6.37:g.12749926G>A	ENSP00000368655:p.Glu52Lys					PHACTR1_ENST00000379348.2_Missense_Mutation_p.E52K|PHACTR1_ENST00000332995.7_Missense_Mutation_p.E52K	p.E52K			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		3	283	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	52					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.154G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.221263|5.221263	0.95139|0.95139	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934|ENST00000406205	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.257993|.	0.29572|.	U|.	0.011769|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.65815|.	0.995;0.994;0.99;0.994|.	D;D;P;P|.	0.68039|.	0.926;0.955;0.587;0.828|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.72032|.	D|.	0.01|.	.|.	16.6248|16.6248	0.84967|0.84967	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	52;52;52;52|.	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2|.	.;.;PHAR1_HUMAN;.|.	K|E	52|87	ENSP00000368655:E52K;ENSP00000368653:E52K;ENSP00000329880:E52K|.	ENSP00000329880:E52K|.	E|G	+|+	1|2	0|0	PHACTR1|PHACTR1	12857912|12857912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.938000|8.938000	0.92943|0.92943	2.152000|2.152000	0.67230|0.67230	0.305000|0.305000	0.20034|0.20034	GAG|GGA		0.642	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		6	49	0	0	0	1	0	6	49				
CEP41	95681	broad.mit.edu	37	7	130080777	130080777	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:130080777C>G	ENST00000223208.5	-	1	301	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CEP41_ENST00000489512.1_Missense_Mutation_p.E11Q|CEP41_ENST00000495702.1_5'UTR|CEP41_ENST00000343969.5_Missense_Mutation_p.E11Q|CEP41_ENST00000541543.1_Missense_Mutation_p.E11Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	11					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											GCCCTCACCTCAGGGTTCCCA	0.657																																						ENST00000223208.4																			0											c.(31-33)Gag>Cag		centrosomal protein 41kDa							60.0	71.0	67.0					7																	130080777		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130080777C>G	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.31G>C	7.37:g.130080777C>G	ENSP00000223208:p.Glu11Gln					CEP41_ENST00000343969.5_Missense_Mutation_p.E11Q|CEP41_ENST00000489512.1_Missense_Mutation_p.E11Q|CEP41_ENST00000541543.1_Missense_Mutation_p.E11Q|CEP41_ENST00000495702.1_5'UTR	p.E11Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			1	301	-			11					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.31G>C	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270091	0.59540	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000489512	D;D;D	0.89050	-2.46;-2.13;-2.46	5.64	5.64	0.86602	.	0.185420	0.48767	D	0.000176	D	0.84220	0.5424	L	0.45137	1.4	0.42256	D	0.991994	B;B;B	0.21821	0.007;0.061;0.008	B;B;B	0.16289	0.005;0.015;0.004	T	0.79162	-0.1917	10	0.19590	T	0.45	-0.1842	15.1831	0.72975	0.0:1.0:0.0:0.0	.	11;11;11	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	Q	11	ENSP00000223208:E11Q;ENSP00000445888:E11Q;ENSP00000342738:E11Q	ENSP00000223208:E11Q	E	-	1	0	TSGA14	129868013	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.471000	0.53107	2.653000	0.90120	0.561000	0.74099	GAG		0.657	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		27	115	0	0	0	1	0	27	115				
DKK2	27123	broad.mit.edu	37	4	107845356	107845356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:107845356C>A	ENST00000285311.3	-	4	1240	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	DKK2_ENST00000510463.1_Nonsense_Mutation_p.E133*|DKK2_ENST00000513208.1_Nonsense_Mutation_p.E79*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	179					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGGTCTCCTTCATGCCCTGCA	0.413																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(535-537)Gaa>Taa		dickkopf WNT signaling pathway inhibitor 2							76.0	73.0	74.0					4																	107845356		2203	4300	6503	SO:0001587	stop_gained	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845356C>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.535G>T	4.37:g.107845356C>A	ENSP00000285311:p.Glu179*					DKK2_ENST00000513208.1_Nonsense_Mutation_p.E79*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.E133*	p.E179*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1240	-		Hepatocellular(203;0.217)	179					A0AVE9|B2R6S7|Q9UIU3	Nonsense_Mutation	SNP	ENST00000285311.3	37	c.535G>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851756	0.97023	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	.	.	.	5.64	5.64	0.86602	.	0.047433	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.5667	19.6876	0.95986	0.0:1.0:0.0:0.0	.	.	.	.	X	179;79;133	.	ENSP00000285311:E179X	E	-	1	0	DKK2	108064805	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	GAA		0.413	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			8	52	1	0	5.18039e-06	1	5.33443e-06	8	52				
ZFP69B	65243	broad.mit.edu	37	1	40928283	40928283	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:40928283C>T	ENST00000411995.2	+	6	1002	c.627C>T	c.(625-627)atC>atT	p.I209I	ZFP69B_ENST00000361584.3_Silent_p.I107I|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	209					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGGCAAATCCCCCTGATGT	0.408																																						ENST00000411995.2																			0											c.(625-627)atC>atT		ZFP69 zinc finger protein B							121.0	132.0	128.0					1																	40928283		2203	4300	6503	SO:0001819	synonymous_variant	65243							g.chr1:40928283C>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.627C>T	1.37:g.40928283C>T						ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.I107I	p.I209I	NM_023070.2	NP_075558.2					6	1002	+								Q5QPL4	Silent	SNP	ENST00000411995.2	37	c.627C>T	CCDS452.2																																																																																				0.408	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		17	166	0	0	0	1	0	17	166				
ERP29	10961	broad.mit.edu	37	12	112460445	112460445	+	Nonsense_Mutation	SNP	G	G	T	rs561392506		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112460445G>T	ENST00000261735.3	+	3	925	c.775G>T	c.(775-777)Gag>Tag	p.E259*	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Nonsense_Mutation_p.E158*	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	259					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGCCGAGAAAGAGGAGCTGTA	0.517													g|||	1	0.000199681	0.0	0.0	5008	,	,		20347	0.0		0.0	False		,,,				2504	0.001					ENST00000261735.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(775-777)Gag>Tag		endoplasmic reticulum protein 29							60.0	66.0	64.0					12																	112460445		2199	4292	6491	SO:0001587	stop_gained	10961				intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity	g.chr12:112460445G>T	X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.775G>T	12.37:g.112460445G>T	ENSP00000261735:p.Glu259*					ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Nonsense_Mutation_p.E158*	p.E259*	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN			3	925	+			259					C9J183|Q3MJC3|Q6FHT4	Nonsense_Mutation	SNP	ENST00000261735.3	37	c.775G>T	CCDS9158.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774783	0.90108	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.75	4.86	0.63082	.	0.072656	0.56097	D	0.000029	.	.	.	.	.	.	0.48762	D	0.999701	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.4595	16.9675	0.86290	0.0:0.1275:0.8725:0.0	.	.	.	.	X	259;158	.	ENSP00000261735:E259X	E	+	1	0	ERP29	110944828	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.924000	0.63418	1.422000	0.47177	0.561000	0.74099	GAG		0.517	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405200.1			19	138	1	0	6.49762e-13	1	6.84152e-13	19	138				
HMCN1	83872	broad.mit.edu	37	1	185987340	185987340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:185987340G>A	ENST00000271588.4	+	34	5555	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1776N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1776	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGTTAATTGATGAAAGGGA	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5326-5328)Gat>Aat		hemicentin 1							134.0	134.0	134.0					1																	185987340		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987340G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5326G>A	1.37:g.185987340G>A	ENSP00000271588:p.Asp1776Asn					HMCN1_ENST00000367492.2_Missense_Mutation_p.D1776N	p.D1776N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			34	5555	+			1776			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5326G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495820	0.64186	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64991	-0.13;-0.13	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.309371	0.38959	N	0.001518	T	0.67655	0.2916	N	0.25825	0.765	0.40375	D	0.979383	D	0.89917	1.0	D	0.87578	0.998	T	0.63730	-0.6571	10	0.25751	T	0.34	.	15.3472	0.74346	0.0683:0.0:0.9317:0.0	.	1776	Q96RW7	HMCN1_HUMAN	N	1776	ENSP00000271588:D1776N;ENSP00000356462:D1776N	ENSP00000271588:D1776N	D	+	1	0	HMCN1	184253963	0.886000	0.30341	0.999000	0.59377	0.906000	0.53458	2.575000	0.46025	2.797000	0.96272	0.563000	0.77884	GAT		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		23	80	0	0	0	1	0	23	80				
YME1L1	10730	broad.mit.edu	37	10	27400992	27400992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27400992G>A	ENST00000326799.3	-	20	2384	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	YME1L1_ENST00000375972.3_Missense_Mutation_p.L656F|YME1L1_ENST00000376016.3_Missense_Mutation_p.L689F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	746					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTTCTGCGAGATTCTTATGC	0.393																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2236-2238)Ctc>Ttc		YME1-like 1 ATPase							182.0	165.0	171.0					10																	27400992		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27400992G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2236C>T	10.37:g.27400992G>A	ENSP00000318480:p.Leu746Phe					YME1L1_ENST00000375972.3_Missense_Mutation_p.L656F|YME1L1_ENST00000376016.3_Missense_Mutation_p.L689F	p.L746F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			20	2384	-			746					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.2236C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548313	0.45383	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375972;ENST00000546122	D;D;D	0.87887	-2.31;-2.31;-2.31	5.53	4.63	0.57726	Peptidase M41 (1);Peptidase M41, FtsH (2);	.	.	.	.	D	0.93458	0.7913	M	0.92833	3.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.93175	0.6569	9	0.87932	D	0	-2.1136	5.2585	0.15559	0.2776:0.0:0.7224:0.0	.	656;689;746	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	F	689;746;656;492	ENSP00000365184:L689F;ENSP00000318480:L746F;ENSP00000365139:L656F	ENSP00000318480:L746F	L	-	1	0	YME1L1	27440998	1.000000	0.71417	0.994000	0.49952	0.003000	0.03518	5.140000	0.64807	2.593000	0.87608	0.655000	0.94253	CTC		0.393	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		16	62	0	0	0	1	0	16	62				
OR52K1	390036	broad.mit.edu	37	11	4510973	4510973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4510973C>G	ENST00000307632.3	+	1	865	c.843C>G	c.(841-843)ttC>ttG	p.F281L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	281						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGCTATTTTCTATCTCCTTT	0.483																																						ENST00000307632.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(841-843)ttC>ttG		olfactory receptor, family 52, subfamily K, member 1							183.0	164.0	170.0					11																	4510973		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510973C>G	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.843C>G	11.37:g.4510973C>G	ENSP00000302422:p.Phe281Leu						p.F281L	NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	865	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	281					B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.843C>G	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	0.377	-0.930719	0.02359	.	.	ENSG00000196778	ENST00000307632	T	0.00032	8.88	4.5	-0.097	0.13635	GPCR, rhodopsin-like superfamily (1);	0.140255	0.32753	N	0.005694	T	0.00073	0.0002	N	0.13140	0.3	0.26347	N	0.977271	B	0.12013	0.005	B	0.17979	0.02	T	0.38779	-0.9645	10	0.02654	T	1	.	4.9785	0.14153	0.1449:0.5619:0.0:0.2932	.	281	Q8NGK4	O52K1_HUMAN	L	281	ENSP00000302422:F281L	ENSP00000302422:F281L	F	+	3	2	OR52K1	4467549	0.034000	0.19679	0.919000	0.36401	0.647000	0.38526	-0.284000	0.08422	0.175000	0.19841	0.411000	0.27672	TTC		0.483	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		27	131	0	0	0	1	0	27	131				
CNOT4	4850	broad.mit.edu	37	7	135048700	135048700	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:135048700G>A	ENST00000451834.1	-	11	2020	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N	CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Silent_p.N582N|CNOT4_ENST00000361528.4_Intron			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTGGTTGGCGTTGGAGGGGG	0.532																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1744-1746)aaC>aaT		CCR4-NOT transcription complex, subunit 4							230.0	199.0	209.0					7																	135048700		876	1991	2867	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048700G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1737C>T	7.37:g.135048700G>A						CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000451834.1_Silent_p.N579N|CNOT4_ENST00000423368.2_Intron	p.N582N	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN			11	2076	-			262					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000451834.1	37	c.1746C>T	CCDS55167.1																																																																																				0.532	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		4	157	0	0	0	1	0	4	157				
DCHS1	8642	broad.mit.edu	37	11	6645054	6645054	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6645054C>G	ENST00000299441.3	-	21	8264	c.7853G>C	c.(7852-7854)gGa>gCa	p.G2618A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2618	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTCAGCTCCAACAGGTGT	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7852-7854)gGa>gCa		dachsous cadherin-related 1							185.0	165.0	172.0					11																	6645054		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645054C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7853G>C	11.37:g.6645054C>G	ENSP00000299441:p.Gly2618Ala						p.G2618A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8264	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2618			Cadherin 25.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7853G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989126	0.74589	.	.	ENSG00000166341	ENST00000299441	T	0.55413	0.52	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.44285	D	0.000469	T	0.80154	0.4571	M	0.94063	3.49	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	D	0.84711	0.0734	10	0.72032	D	0.01	.	17.9244	0.88979	0.0:1.0:0.0:0.0	.	2618	Q96JQ0	PCD16_HUMAN	A	2618	ENSP00000299441:G2618A	ENSP00000299441:G2618A	G	-	2	0	DCHS1	6601630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.822000	0.97130	0.650000	0.86243	GGA		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		46	166	0	0	0	1	0	46	166				
GRIN2D	2906	broad.mit.edu	37	19	48925132	48925132	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48925132G>A	ENST00000263269.3	+	10	2270	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	728					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAACTATCCCGACATGCACAG	0.647																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2182-2184)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						98.0	91.0	93.0					19																	48925132		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48925132G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2182G>A	19.37:g.48925132G>A	ENSP00000263269:p.Asp728Asn						p.D728N	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	10	2270	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	728						Missense_Mutation	SNP	ENST00000263269.3	37	c.2182G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853415	0.71719	.	.	ENSG00000105464	ENST00000263269	T	0.26957	1.7	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.113273	0.56097	D	0.000032	T	0.28400	0.0702	L	0.38175	1.15	0.53005	D	0.999962	D	0.54207	0.965	P	0.47044	0.535	T	0.03202	-1.1061	10	0.52906	T	0.07	.	16.6522	0.85219	0.0:0.0:1.0:0.0	.	728	O15399	NMDE4_HUMAN	N	728	ENSP00000263269:D728N	ENSP00000263269:D728N	D	+	1	0	GRIN2D	53616944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.538000	0.85594	0.655000	0.94253	GAC		0.647	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			12	187	0	0	0	1	0	12	187				
ATP7B	540	broad.mit.edu	37	13	52509015	52509015	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:52509015G>A	ENST00000242839.4	-	21	4431	c.4275C>T	c.(4273-4275)gtC>gtT	p.V1425V	ATP7B_ENST00000400366.3_Silent_p.V1314V|ATP7B_ENST00000400370.3_Silent_p.V995V|ATP7B_ENST00000344297.5_Silent_p.V1218V|ATP7B_ENST00000418097.2_Silent_p.V1360V|ATP7B_ENST00000448424.2_Silent_p.V1347V|ATP7B_ENST00000417240.2_Silent_p.V636V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1425					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACACCTGGCTGACATAGCTGA	0.617									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(4273-4275)gtC>gtT		ATPase, Cu++ transporting, beta polypeptide							96.0	103.0	101.0					13																	52509015		2184	4271	6455	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52509015G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4275C>T	13.37:g.52509015G>A						ATP7B_ENST00000400366.3_Silent_p.V1314V|ATP7B_ENST00000418097.2_Silent_p.V1360V|ATP7B_ENST00000417240.2_Silent_p.V636V|ATP7B_ENST00000448424.2_Silent_p.V1347V|ATP7B_ENST00000400370.3_Silent_p.V995V|ATP7B_ENST00000344297.5_Silent_p.V1218V	p.V1425V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	21	4431	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1425					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.4275C>T	CCDS41892.1																																																																																				0.617	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		24	107	0	0	0	1	0	24	107				
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76254991C>T	ENST00000310842.4	-	3	759	c.75G>A	c.(73-75)caG>caA	p.Q25Q	UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.Q25Q|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418																																						ENST00000310842.4																			0				kidney(3)|lung(2)	5						c.(73-75)caG>caA		POM121 and ZP3 fusion							201.0	186.0	191.0					7																	76254991		2203	4300	6503	SO:0001819	synonymous_variant	22932							g.chr7:76254991C>T	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.75G>A	7.37:g.76254991C>T						UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.Q25Q	p.Q25Q	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN			3	759	-		Myeloproliferative disorder(862;0.204)	25					F6STJ3|Q12903|Q9BWB4	Silent	SNP	ENST00000310842.4	37	c.75G>A	CCDS43606.1																																																																																				0.418	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		39	124	0	0	0	1	0	39	124				
GFRAL	389400	broad.mit.edu	37	6	55216296	55216296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:55216296C>T	ENST00000340465.2	+	5	702	c.616C>T	c.(616-618)Cac>Tac	p.H206Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGAAGCTCTTCACAGCAAGAC	0.423																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(616-618)Cac>Tac		GDNF family receptor alpha like							124.0	121.0	122.0					6																	55216296		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216296C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.616C>T	6.37:g.55216296C>T	ENSP00000343636:p.His206Tyr						p.H206Y	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	702	+	Lung NSC(77;0.0875)|Renal(3;0.122)		206					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.616C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325049	0.81580	.	.	ENSG00000187871	ENST00000340465	T	0.64438	-0.1	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.34521	1.04	0.48696	D	0.999694	D	0.67145	0.996	D	0.74674	0.984	T	0.68183	-0.5476	10	0.59425	D	0.04	-17.37	20.6087	0.99469	0.0:1.0:0.0:0.0	.	206	Q6UXV0	GFRAL_HUMAN	Y	206	ENSP00000343636:H206Y	ENSP00000343636:H206Y	H	+	1	0	GFRAL	55324255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.631000	0.67812	2.866000	0.98385	0.650000	0.86243	CAC		0.423	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		20	75	0	0	0	1	0	20	75				
CUTC	51076	broad.mit.edu	37	10	101507142	101507142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101507142G>A	ENST00000370476.5	+	6	697	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	190					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GCGACTCATTGAGCAGGTACG	0.443																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(568-570)Gag>Aag		cutC copper transporter							157.0	140.0	146.0					10																	101507142		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101507142G>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.568G>A	10.37:g.101507142G>A	ENSP00000359507:p.Glu190Lys						p.E190K	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	6	697	+		Colorectal(252;0.234)	190					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.568G>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389203	0.42410	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.51	5.51	0.81932	Copper homeostasis CutC domain (2);	0.191045	0.56097	D	0.000037	T	0.59321	0.2185	L	0.47716	1.5	0.80722	D	1	B;B	0.21520	0.057;0.006	B;B	0.27380	0.079;0.019	T	0.53415	-0.8442	9	0.21540	T	0.41	-2.9016	19.415	0.94690	0.0:0.0:1.0:0.0	.	190;190	B4DYM2;Q9NTM9	.;CUTC_HUMAN	K	190;127	.	ENSP00000359503:E127K	E	+	1	0	CUTC	101497132	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	6.092000	0.71414	2.594000	0.87642	0.563000	0.77884	GAG		0.443	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		16	44	0	0	0	1	0	16	44				
ZNF783	100289678	broad.mit.edu	37	7	148963623	148963623	+	Silent	SNP	C	C	T	rs367827730		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:148963623C>T	ENST00000434415.1	+	2	385	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGGGACAGCCGAGAAGAAGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16016	0.0		0.0	False		,,,				2504	0.0					ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(220-222)gcC>gcT		zinc finger family member 783		C		3,4403	6.2+/-15.9	0,3,2200	51.0	52.0	51.0		222	-9.5	0.0	7		51	0,8600		0,0,4300	no	coding-synonymous	ZNF783	NM_001195220.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		74/547	148963623	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963623C>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.222C>T	7.37:g.148963623C>T							p.A74A	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		2	385	+	Melanoma(164;0.15)		74					C9J9J2	Silent	SNP	ENST00000434415.1	37	c.222C>T	CCDS56519.1																																																																																				0.642	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		7	61	0	0	0	1	0	7	61				
APBA1	320	broad.mit.edu	37	9	72071254	72071254	+	Missense_Mutation	SNP	G	G	A	rs557817337		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:72071254G>A	ENST00000265381.4	-	8	1919	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	566	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGGAGTTGGAGCGAGGCAT	0.562																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1696-1698)tCc>tTc		amyloid beta (A4) precursor protein-binding, family A, member 1							242.0	231.0	235.0					9																	72071254		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72071254G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1697C>T	9.37:g.72071254G>A	ENSP00000265381:p.Ser566Phe					APBA1_ENST00000470082.1_5'UTR	p.S566F	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			8	1919	-			566			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1697C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535934	0.96460	.	.	ENSG00000107282	ENST00000265381	T	0.55052	0.54	6.06	6.06	0.98353	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.053200	0.85682	D	0.000000	T	0.71871	0.3391	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.71424	-0.4597	10	0.72032	D	0.01	-18.2644	20.613	0.99472	0.0:0.0:1.0:0.0	.	566	Q02410	APBA1_HUMAN	F	566	ENSP00000265381:S566F	ENSP00000265381:S566F	S	-	2	0	APBA1	71261074	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.745000	0.85046	2.876000	0.98609	0.655000	0.94253	TCC		0.562	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		11	330	0	0	0	1	0	11	330				
SWAP70	23075	broad.mit.edu	37	11	9749698	9749698	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9749698G>C	ENST00000318950.6	+	5	844	c.741G>C	c.(739-741)ctG>ctC	p.L247L	SWAP70_ENST00000447399.2_Silent_p.L189L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	247	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GTGAGGATCTGAAGGATAAGA	0.423																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(739-741)ctG>ctC		SWAP switching B-cell complex 70kDa subunit							187.0	181.0	183.0					11																	9749698		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9749698G>C	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.741G>C	11.37:g.9749698G>C						SWAP70_ENST00000447399.2_Silent_p.L189L	p.L247L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	5	844	+			247			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.741G>C	CCDS31426.1																																																																																				0.423	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		24	107	0	0	0	1	0	24	107				
DCSTAMP	81501	broad.mit.edu	37	8	105361016	105361016	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:105361016G>C	ENST00000297581.2	+	2	285	c.236G>C	c.(235-237)cGa>cCa	p.R79P	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R79P|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	79					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.R79Q(1)									AAGCATGCACGATGTTTTATT	0.522																																						ENST00000297581.2																			1	Substitution - Missense(1)	p.R79Q(1)	urinary_tract(1)								c.(235-237)cGa>cCa		dendrocyte expressed seven transmembrane protein							100.0	92.0	94.0					8																	105361016		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361016G>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.236G>C	8.37:g.105361016G>C	ENSP00000297581:p.Arg79Pro					DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R79P|DPYS_ENST00000521601.1_Intron	p.R79P	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	285	+			79					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.236G>C	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197690	0.58126	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.77229	-1.08	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	M	0.66939	2.045	0.44711	D	0.997707	D	0.89917	1.0	D	0.91635	0.999	D	0.85895	0.1431	9	.	.	.	-16.9186	18.3185	0.90229	0.0:0.0:1.0:0.0	.	79	Q9H295	TM7S4_HUMAN	P	79	ENSP00000297581:R79P	.	R	+	2	0	TM7SF4	105430192	0.998000	0.40836	0.011000	0.14972	0.169000	0.22640	8.156000	0.89645	2.779000	0.95612	0.655000	0.94253	CGA		0.522	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		11	65	0	0	0	1	0	11	65				
SLIT3	6586	broad.mit.edu	37	5	168620509	168620509	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:168620509G>A	ENST00000519560.1	-	4	806	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLIT3_ENST00000404867.3_Silent_p.F129F|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.F129F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	129					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCTCTGGAAAAGCAATT	0.493																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(385-387)ttC>ttT		slit homolog 3 (Drosophila)							158.0	140.0	146.0					5																	168620509		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168620509G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.387C>T	5.37:g.168620509G>A						SLIT3_ENST00000332966.8_Silent_p.F129F|SLIT3_ENST00000404867.3_Silent_p.F129F|SLIT3_ENST00000521130.1_5'UTR	p.F129F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	806	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	129					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.387C>T	CCDS4369.1																																																																																				0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		13	68	0	0	0	1	0	13	68				
ISM2	145501	broad.mit.edu	37	14	77944663	77944663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:77944663C>T	ENST00000342219.4	-	6	1176	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000429906.1_Missense_Mutation_p.E293K|ISM2_ENST00000493585.1_Silent_p.L258L|ISM2_ENST00000393684.3_Missense_Mutation_p.E286K	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	374						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCTTGTCCTCAGTGCCTTTG	0.627																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(856-858)Gag>Aag		isthmin 2							119.0	102.0	108.0					14																	77944663		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77944663C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1120G>A	14.37:g.77944663C>T	ENSP00000341490:p.Glu374Lys					ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000342219.4_Missense_Mutation_p.E374K|ISM2_ENST00000493585.1_Silent_p.L258L|ISM2_ENST00000429906.1_Missense_Mutation_p.E293K	p.E286K			Q6H9L7	ISM2_HUMAN			7	1247	-			374					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.856G>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469505	0.26423	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24908	1.83;1.85;1.86;2.17	4.64	-1.29	0.09288	.	0.715538	0.13286	N	0.399411	T	0.16085	0.0387	.	.	.	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.19031	-1.0318	9	0.36615	T	0.2	-12.3546	8.3409	0.32243	0.0:0.4277:0.0:0.5723	.	293;374	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	K	374;293;293;286	ENSP00000341490:E374K;ENSP00000416773:E293K;ENSP00000395387:E293K;ENSP00000377289:E286K	ENSP00000341490:E374K	E	-	1	0	ISM2	77014416	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.017000	0.03630	-0.666000	0.05310	0.462000	0.41574	GAG		0.627	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		25	96	0	0	0	1	0	25	96				
VEPH1	79674	broad.mit.edu	37	3	157082177	157082177	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:157082177C>A	ENST00000362010.2	-	8	1559	c.1252G>T	c.(1252-1254)Gca>Tca	p.A418S	VEPH1_ENST00000392833.2_Missense_Mutation_p.A418S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A418S|VEPH1_ENST00000543418.1_Missense_Mutation_p.A418S|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	418						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGCTCCCTGCATTTATCTTG	0.373																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1252-1254)Gca>Tca		ventricular zone expressed PH domain-containing 1							145.0	139.0	141.0					3																	157082177		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157082177C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1252G>T	3.37:g.157082177C>A	ENSP00000354919:p.Ala418Ser					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.A418S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A418S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A418S	p.A418S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		8	1559	-			418					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1252G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	1.738	-0.492363	0.04322	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08193	3.12;3.13;3.12;3.13	5.71	-0.526	0.11913	.	0.735154	0.13355	N	0.394125	T	0.04182	0.0116	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.45454	-0.9260	10	0.09084	T	0.74	-5.1631	1.5399	0.02553	0.117:0.3135:0.2306:0.3389	.	418;418	Q14D04-2;Q14D04	.;MELT_HUMAN	S	418	ENSP00000376578:A418S;ENSP00000354919:A418S;ENSP00000446258:A418S;ENSP00000376577:A418S	ENSP00000354919:A418S	A	-	1	0	VEPH1	158564871	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.808000	0.04515	-0.166000	0.10890	0.650000	0.86243	GCA		0.373	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		15	40	1	0	2.62699e-14	1	2.78169e-14	15	40				
SPRED2	200734	broad.mit.edu	37	2	65540893	65540893	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:65540893C>G	ENST00000356388.4	-	6	1188	c.999G>C	c.(997-999)gtG>gtC	p.V333V	SPRED2_ENST00000443619.2_Silent_p.V330V|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGCAAGTTCTCACGGAGTCGG	0.632																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(997-999)gtG>gtC		sprouty-related, EVH1 domain containing 2							87.0	84.0	85.0					2																	65540893		2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540893C>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.999G>C	2.37:g.65540893C>G						SPRED2_ENST00000443619.2_Silent_p.V330V	p.V333V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1188	-			333			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.999G>C	CCDS33211.1																																																																																				0.632	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			23	137	0	0	0	1	0	23	137				
SMIM12	113444	broad.mit.edu	37	1	35321395	35321395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:35321395G>C	ENST00000521580.2	-	2	328	c.184C>G	c.(184-186)Cta>Gta	p.L62V	SMIM12_ENST00000446026.1_Missense_Mutation_p.L62V|SMIM12_ENST00000423898.1_Missense_Mutation_p.L62V|SMIM12_ENST00000417239.1_Missense_Mutation_p.L62V|SMIM12_ENST00000456842.1_Missense_Mutation_p.L62V	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12	62						integral component of membrane (GO:0016021)											TCCTTGCCTAGAAGCTCATCC	0.547																																						ENST00000521580.2																			0											c.(184-186)Cta>Gta		small integral membrane protein 12							87.0	81.0	83.0					1																	35321395		692	1591	2283	SO:0001583	missense	113444							g.chr1:35321395G>C		CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.184C>G	1.37:g.35321395G>C	ENSP00000428585:p.Leu62Val					SMIM12_ENST00000423898.1_Missense_Mutation_p.L62V|SMIM12_ENST00000417239.1_Missense_Mutation_p.L62V|SMIM12_ENST00000446026.1_Missense_Mutation_p.L62V|SMIM12_ENST00000456842.1_Missense_Mutation_p.L62V	p.L62V	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3					2	328	-								D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Missense_Mutation	SNP	ENST00000521580.2	37	c.184C>G	CCDS53295.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466009	0.26335	.	.	ENSG00000163866	ENST00000521580;ENST00000446026;ENST00000456842;ENST00000423898;ENST00000417239	.	.	.	5.88	4.79	0.61399	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.23254	N	0.998034	.	.	.	.	.	.	T	0.12041	-1.0563	5	0.22706	T	0.39	.	5.3335	0.15945	0.0854:0.1785:0.6061:0.1301	.	.	.	.	V	62	.	ENSP00000428541:L62V	L	-	1	2	C1orf212	35093982	0.002000	0.14202	1.000000	0.80357	0.994000	0.84299	0.611000	0.24268	2.790000	0.95986	0.591000	0.81541	CTA		0.547	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012715.3	NM_138428		2	1	0	0	0	1	0	2	1				
ZNF599	148103	broad.mit.edu	37	19	35250961	35250961	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35250961G>T	ENST00000329285.8	-	4	1118	c.745C>A	c.(745-747)Cat>Aat	p.H249N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCCAGTATGAAGCCTCATA	0.483																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(745-747)Cat>Aat		zinc finger protein 599							128.0	133.0	131.0					19																	35250961		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250961G>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.745C>A	19.37:g.35250961G>T	ENSP00000333802:p.His249Asn						p.H249N	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1118	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		249					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.745C>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190367	0.58017	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	D	0.88818	-2.43	2.2	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95806	0.8635	H	0.97491	4.015	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.95691	0.8740	9	0.87932	D	0	.	10.4629	0.44590	0.0:0.0:1.0:0.0	.	249	Q96NL3	ZN599_HUMAN	N	248;249;51	ENSP00000333802:H249N	ENSP00000333802:H249N	H	-	1	0	ZNF599	39942801	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	4.569000	0.60865	1.551000	0.49450	0.491000	0.48974	CAT		0.483	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		34	130	1	0	2.42023e-17	1	2.56858e-17	34	130				
ITPKC	80271	broad.mit.edu	37	19	41235183	41235183	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41235183G>A	ENST00000263370.2	+	3	1365	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	444					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGAGCAGCTGATGAAAGACC	0.537																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1330-1332)ctG>ctA		inositol-trisphosphate 3-kinase C							70.0	61.0	64.0					19																	41235183		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41235183G>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1332G>A	19.37:g.41235183G>A							p.L444L	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1365	+			444					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.1332G>A	CCDS12563.1																																																																																				0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		4	53	0	0	0	1	0	4	53				
PIGG	54872	broad.mit.edu	37	4	493170	493170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493170G>A	ENST00000453061.2	+	1	152	c.46G>A	c.(46-48)Gag>Aag	p.E16K	PIGG_ENST00000310340.5_Missense_Mutation_p.E16K|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000383028.4_Missense_Mutation_p.E16K|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	16					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTAGCGATCGAGGTGCTAGG	0.667																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(46-48)Gag>Aag		phosphatidylinositol glycan anchor biosynthesis, class G							63.0	56.0	58.0					4																	493170		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:493170G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.46G>A	4.37:g.493170G>A	ENSP00000415203:p.Glu16Lys					PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E16K|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E16K|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR	p.E16K	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			1	152	+			16					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.46G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885020	0.91814	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.09630	3.28;3.29;2.96	4.4	3.49	0.39957	.	0.302670	0.34959	N	0.003552	T	0.14098	0.0341	M	0.61703	1.905	0.80722	D	1	D;P;D	0.58268	0.974;0.935;0.982	B;B;P	0.46076	0.39;0.238;0.503	T	0.03922	-1.0992	10	0.28530	T	0.3	.	10.7807	0.46376	0.0:0.1935:0.8065:0.0	.	16;16;16	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	K	16	ENSP00000311750:E16K;ENSP00000415203:E16K;ENSP00000372494:E16K	ENSP00000311750:E16K	E	+	1	0	PIGG	483170	0.980000	0.34600	1.000000	0.80357	0.935000	0.57460	1.018000	0.30002	2.166000	0.68216	0.557000	0.71058	GAG		0.667	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	19	0	0	0	1	0	5	19				
TRPM8	79054	broad.mit.edu	37	2	234905030	234905030	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:234905030C>T	ENST00000324695.4	+	22	3040	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	TRPM8_ENST00000433712.2_Silent_p.F578F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1000					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGAGGTACTTCCTGGTGCAGG	0.537																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2998-3000)ttC>ttT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						126.0	121.0	123.0					2																	234905030		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234905030C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3000C>T	2.37:g.234905030C>T						TRPM8_ENST00000433712.2_Silent_p.F578F	p.F1000F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	22	3040	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	1000					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.3000C>T	CCDS33407.1																																																																																				0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		18	70	0	0	0	1	0	18	70				
SCNN1D	6339	broad.mit.edu	37	1	1226975	1226975	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1226975G>C	ENST00000338555.2	+	15	3046	c.1902G>C	c.(1900-1902)gaG>gaC	p.E634D	SCNN1D_ENST00000400928.3_Missense_Mutation_p.E634D|SCNN1D_ENST00000379116.5_Missense_Mutation_p.E798D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E700D			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	634					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	AGCCCCTTGAGACTCTGGACA	0.682																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1900-1902)gaG>gaC		sodium channel, non-voltage-gated 1, delta subunit							16.0	19.0	18.0					1																	1226975		2142	4211	6353	SO:0001583	missense	6339							g.chr1:1226975G>C	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1902G>C	1.37:g.1226975G>C	ENSP00000339504:p.Glu634Asp					SCNN1D_ENST00000379116.5_Missense_Mutation_p.E798D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E700D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.E634D	p.E634D						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	15	3046	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1902G>C		.	.	.	.	.	.	.	.	.	.	G	11.60	1.687059	0.29962	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.72615	-0.67;-0.47;-0.58;-0.47	3.07	-2.93	0.05598	.	2.979700	0.02957	U	0.142594	T	0.51736	0.1692	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17852	0.012;0.012;0.024	B;B;B	0.18263	0.007;0.011;0.021	T	0.32587	-0.9901	10	0.12430	T	0.62	.	7.148	0.25593	0.1309:0.5469:0.3221:0.0	.	456;634;798	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	D	665;798;634;700;634	ENSP00000368411:E798D;ENSP00000339504:E634D;ENSP00000321594:E700D;ENSP00000383717:E634D	ENSP00000321594:E700D	E	+	3	2	SCNN1D	1216838	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.325000	0.07976	-0.622000	0.05626	0.484000	0.47621	GAG		0.682	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		12	54	0	0	0	1	0	12	54				
TMEM125	128218	broad.mit.edu	37	1	43738853	43738853	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43738853C>G	ENST00000432792.2	+	4	1030	c.460C>G	c.(460-462)Ctg>Gtg	p.L154V	TMEM125_ENST00000439858.1_Missense_Mutation_p.L154V			Q96AQ2	TM125_HUMAN	transmembrane protein 125	154						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCATTGCTCTGGCTGCCTT	0.687																																						ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(460-462)Ctg>Gtg		transmembrane protein 125							37.0	33.0	34.0					1																	43738853		2203	4300	6503	SO:0001583	missense	128218					integral to membrane		g.chr1:43738853C>G	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.460C>G	1.37:g.43738853C>G	ENSP00000429275:p.Leu154Val					TMEM125_ENST00000439858.1_Missense_Mutation_p.L154V	p.L154V			Q96AQ2	TM125_HUMAN			4	1030	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	154					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.460C>G	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955107	0.34471	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.59638	0.25;0.25	5.2	2.29	0.28610	.	0.000000	0.64402	D	0.000004	T	0.62612	0.2442	L	0.32530	0.975	0.43399	D	0.995523	D	0.89917	1.0	D	0.85130	0.997	T	0.61108	-0.7129	10	0.72032	D	0.01	.	9.7477	0.40457	0.0:0.7718:0.0:0.2282	.	154	Q96AQ2	TM125_HUMAN	V	154	ENSP00000429775:L154V;ENSP00000429275:L154V	ENSP00000429275:L154V	L	+	1	2	TMEM125	43511440	0.990000	0.36364	0.298000	0.25002	0.007000	0.05969	1.682000	0.37628	0.196000	0.20367	0.563000	0.77884	CTG		0.687	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		7	32	0	0	0	1	0	7	32				
ZCRB1	85437	broad.mit.edu	37	12	42707719	42707719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:42707719C>G	ENST00000266529.3	-	6	586	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	ZCRB1_ENST00000552673.1_Missense_Mutation_p.E94Q|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	135	Poly-Lys.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTCTTTTTTTCTTTCTTCTTT	0.338																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(403-405)Gaa>Caa		zinc finger CCHC-type and RNA binding motif 1							63.0	63.0	63.0					12																	42707719		2203	4300	6503	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42707719C>G	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.403G>C	12.37:g.42707719C>G	ENSP00000266529:p.Glu135Gln					ZCRB1_ENST00000552673.1_Missense_Mutation_p.E94Q|PPHLN1_ENST00000549190.1_Intron	p.E135Q	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	6	586	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	135			Poly-Lys.		Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.403G>C	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883310	0.51908	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.44881	2.63;0.91;0.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.55481	1.735	0.80722	D	1	B	0.22480	0.07	B	0.14023	0.01	T	0.24870	-1.0148	10	0.16896	T	0.51	-21.7439	19.877	0.96880	0.0:1.0:0.0:0.0	.	135	Q8TBF4	ZCRB1_HUMAN	Q	135;94;94	ENSP00000266529:E135Q;ENSP00000446732:E94Q;ENSP00000448780:E94Q	ENSP00000266529:E135Q	E	-	1	0	ZCRB1	40993986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.444000	0.66587	2.713000	0.92767	0.650000	0.86243	GAA		0.338	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		5	30	0	0	0	1	0	5	30				
TPH1	7166	broad.mit.edu	37	11	18057546	18057546	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:18057546G>C	ENST00000250018.2	-	2	823	c.261C>G	c.(259-261)ctC>ctG	p.L87L	TPH1_ENST00000341556.2_Silent_p.L87L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	87	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GATTCACAGAGAGAACATTGG	0.333																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(259-261)ctC>ctG		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						92.0	90.0	91.0					11																	18057546		2200	4293	6493	SO:0001819	synonymous_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057546G>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.261C>G	11.37:g.18057546G>C						TPH1_ENST00000341556.2_Silent_p.L87L	p.L87L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			2	823	-			87			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	c.261C>G	CCDS7829.1																																																																																				0.333	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	41	0	0	0	1	0	5	41				
PDE4DIP	9659	broad.mit.edu	37	1	144931376	144931376	+	Intron	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144931376C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Silent_p.G111G|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.G111G|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGTCCCATTCCCCGCCTTGA	0.532			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(331-333)ggG>ggA		phosphodiesterase 4D interacting protein							222.0	215.0	218.0					1																	144931376		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931376C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7555G>A	1.37:g.144931376C>T						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Silent_p.G111G|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron	p.G111G			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	772	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.333G>A	CCDS30824.1																																																																																				0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		22	266	0	0	0	1	0	22	266				
GLI2	2736	broad.mit.edu	37	2	121740432	121740432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:121740432C>G	ENST00000452319.1	+	11	1719	c.1659C>G	c.(1657-1659)caC>caG	p.H553Q	GLI2_ENST00000361492.4_Missense_Mutation_p.H553Q|GLI2_ENST00000314490.11_Missense_Mutation_p.H225Q|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGCCAAGCACCAGAATCGCA	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1657-1659)caC>caG		GLI family zinc finger 2							84.0	71.0	76.0					2																	121740432		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121740432C>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1659C>G	2.37:g.121740432C>G	ENSP00000390436:p.His553Gln					GLI2_ENST00000314490.11_Missense_Mutation_p.H225Q|GLI2_ENST00000361492.4_Missense_Mutation_p.H553Q|GLI2_ENST00000435313.2_3'UTR	p.H553Q			P10070	GLI2_HUMAN			11	1719	+	Renal(3;0.0496)	Prostate(154;0.0623)	553						Missense_Mutation	SNP	ENST00000452319.1	37	c.1659C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984704	0.74474	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.52983	0.64;0.64;0.81	4.59	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	H	0.96430	3.82	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.992;0.998;1.0;1.0	T	0.80219	-0.1473	10	0.87932	D	0	.	10.6966	0.45903	0.0:0.8435:0.0:0.1565	.	553;536;208;208;225	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	Q	553;553;225	ENSP00000390436:H553Q;ENSP00000354586:H553Q;ENSP00000312694:H225Q	ENSP00000312694:H225Q	H	+	3	2	GLI2	121456902	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.632000	0.37102	0.659000	0.30945	0.484000	0.47621	CAC		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		16	65	0	0	0	1	0	16	65				
TNC	3371	broad.mit.edu	37	9	117848984	117848984	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:117848984C>T	ENST00000350763.4	-	3	1437	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	TNC_ENST00000345230.3_Silent_p.G342G|TNC_ENST00000537320.1_Silent_p.G342G|TNC_ENST00000542877.1_Silent_p.G342G|TNC_ENST00000535648.1_Silent_p.G342G|TNC_ENST00000346706.3_Silent_p.G342G|TNC_ENST00000341037.4_Silent_p.G342G|TNC_ENST00000423613.2_Silent_p.G342G|TNC_ENST00000340094.3_Silent_p.G342G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	342	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGTGGGTTTCCCGCAGTCTT	0.607																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1024-1026)ggG>ggA		tenascin C							72.0	68.0	70.0					9																	117848984		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848984C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1026G>A	9.37:g.117848984C>T						TNC_ENST00000340094.3_Silent_p.G342G|TNC_ENST00000346706.3_Silent_p.G342G|TNC_ENST00000423613.2_Silent_p.G342G|TNC_ENST00000345230.3_Silent_p.G342G|TNC_ENST00000341037.4_Silent_p.G342G|TNC_ENST00000537320.1_Silent_p.G342G|TNC_ENST00000535648.1_Silent_p.G342G|TNC_ENST00000542877.1_Silent_p.G342G	p.G342G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1437	-			342			EGF-like 6.|EGF-like 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.1026G>A	CCDS6811.1																																																																																				0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	75	0	0	0	1	0	11	75				
EMP3	2014	broad.mit.edu	37	19	48832733	48832733	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48832733C>G	ENST00000270221.6	+	4	607	c.306C>G	c.(304-306)ctC>ctG	p.L102L	EMP3_ENST00000597279.1_Silent_p.L102L|EMP3_ENST00000596315.1_Silent_p.L33L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	102					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCACCGGCCTCTGCCAGCTTT	0.572																																						ENST00000270221.6																			0				lung(1)	1						c.(304-306)ctC>ctG		epithelial membrane protein 3							190.0	140.0	157.0					19																	48832733		2203	4300	6503	SO:0001819	synonymous_variant	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48832733C>G	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.306C>G	19.37:g.48832733C>G						EMP3_ENST00000596315.1_Silent_p.L33L|EMP3_ENST00000597279.1_Silent_p.L102L	p.L102L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	4	607	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	102					Q6FH01	Silent	SNP	ENST00000270221.6	37	c.306C>G	CCDS12715.1																																																																																				0.572	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	NM_001425		15	114	0	0	0	1	0	15	114				
ETS1	2113	broad.mit.edu	37	11	128354930	128354930	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:128354930G>C	ENST00000319397.6	-	5	827	c.518C>G	c.(517-519)tCg>tGg	p.S173W	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.S217W|ETS1_ENST00000345075.4_Missense_Mutation_p.S173W|ETS1_ENST00000531611.1_Missense_Mutation_p.S173W|ETS1_ENST00000526145.2_Missense_Mutation_p.S173W	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	173	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(649-651)tCg>tGg		v-ets avian erythroblastosis virus E26 oncogene homolog 1							162.0	146.0	152.0					11																	128354930		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354930G>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.518C>G	11.37:g.128354930G>C	ENSP00000324578:p.Ser173Trp					ETS1_ENST00000345075.4_Missense_Mutation_p.S173W|ETS1_ENST00000531611.1_Missense_Mutation_p.S173W|ETS1_ENST00000526145.1_Missense_Mutation_p.S173W|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.S173W	p.S217W	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	7	718	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	173					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.650C>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924781	0.52759	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.54071	2.86;2.53;0.59;2.53;2.86	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.993	D;P;P	0.80764	0.994;0.894;0.68	T	0.67914	-0.5547	10	0.52906	T	0.07	.	20.0731	0.97731	0.0:0.0:1.0:0.0	.	173;173;217	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	W	173;217;173;173;173	ENSP00000340485:S173W;ENSP00000376436:S217W;ENSP00000435666:S173W;ENSP00000324578:S173W;ENSP00000433500:S173W	ENSP00000324578:S173W	S	-	2	0	ETS1	127860140	1.000000	0.71417	0.162000	0.22713	0.010000	0.07245	9.823000	0.99369	2.742000	0.94016	0.655000	0.94253	TCG		0.483	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		18	171	0	0	0	1	0	18	171				
MECR	51102	broad.mit.edu	37	1	29520610	29520610	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29520610G>C	ENST00000263702.6	-	10	1071	c.1046C>G	c.(1045-1047)cCg>cGg	p.P349R	MECR_ENST00000373791.3_Missense_Mutation_p.P273R			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	349					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTCCTGCAGCGGGACCTGGGA	0.567																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(817-819)cCg>cGg		mitochondrial trans-2-enoyl-CoA reductase							105.0	112.0	110.0					1																	29520610		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29520610G>C		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.1046C>G	1.37:g.29520610G>C	ENSP00000263702:p.Pro349Arg					MECR_ENST00000263702.6_Missense_Mutation_p.P349R	p.P273R	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	10	1190	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	349					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.818C>G	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550191	0.27652	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.04194	3.68;3.73	5.48	4.58	0.56647	.	0.228954	0.46442	D	0.000282	T	0.08179	0.0204	M	0.83223	2.63	0.46458	D	0.999056	P	0.37548	0.599	B	0.30401	0.115	T	0.05146	-1.0903	10	0.46703	T	0.11	.	10.2237	0.43212	0.0915:0.0:0.9085:0.0	.	349	Q9BV79	MECR_HUMAN	R	273;349	ENSP00000362896:P273R;ENSP00000263702:P349R	ENSP00000263702:P349R	P	-	2	0	MECR	29393197	0.999000	0.42202	0.736000	0.30914	0.513000	0.34164	3.071000	0.50041	1.331000	0.45412	-0.251000	0.11542	CCG		0.567	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		34	139	0	0	0	1	0	34	139				
ZNF322	79692	broad.mit.edu	37	6	26637713	26637713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:26637713C>G	ENST00000415922.2	-	4	1714	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	ZNF322_ENST00000471278.1_Missense_Mutation_p.D357H|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGCTTTTATCACATACAGTG	0.428																																						ENST00000415922.2																			0											c.(1069-1071)Gat>Cat		zinc finger protein 322							174.0	138.0	150.0					6																	26637713		2202	4295	6497	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637713C>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1069G>C	6.37:g.26637713C>G	ENSP00000418897:p.Asp357His					ZNF322_ENST00000471278.1_Missense_Mutation_p.D357H	p.D357H	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1714	-			357					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1069G>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	14.41	2.527725	0.44969	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.16324	2.35;2.35	4.9	4.02	0.46733	.	0.000000	0.47455	D	0.000229	T	0.07593	0.0191	N	0.26042	0.785	0.32923	D	0.516059	B	0.22746	0.074	B	0.35770	0.21	T	0.11324	-1.0592	10	0.87932	D	0	-16.2821	11.6599	0.51341	0.0:0.9116:0.0:0.0883	.	357	Q6U7Q0	ZN322_HUMAN	H	357	ENSP00000418897:D357H;ENSP00000419728:D357H	ENSP00000418897:D357H	D	-	1	0	ZNF322	26745692	0.050000	0.20438	0.962000	0.40283	0.964000	0.63967	1.354000	0.34056	1.382000	0.46385	0.655000	0.94253	GAT		0.428	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		21	107	0	0	0	1	0	21	107				
ADCY10	55811	broad.mit.edu	37	1	167868766	167868766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167868766C>G	ENST00000367851.4	-	6	721	c.537G>C	c.(535-537)caG>caC	p.Q179H	ADCY10_ENST00000545172.1_Missense_Mutation_p.Q26H|ADCY10_ENST00000367848.1_Missense_Mutation_p.Q87H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	179	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGCCATGTTCTGGGCAAGGC	0.507																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(259-261)caG>caC		adenylate cyclase 10 (soluble)							105.0	85.0	92.0					1																	167868766		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167868766C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.537G>C	1.37:g.167868766C>G	ENSP00000356825:p.Gln179His					ADCY10_ENST00000545172.1_Missense_Mutation_p.Q26H|ADCY10_ENST00000367851.4_Missense_Mutation_p.Q179H	p.Q87H			Q96PN6	ADCYA_HUMAN			6	758	-			179			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.261G>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558885	0.45590	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.81330	1.34;-1.48;1.37	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.56097	D	0.000025	D	0.85353	0.5677	L	0.58101	1.795	0.30627	N	0.757939	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.987;0.992	D	0.87045	0.2143	9	0.87932	D	0	-21.6023	14.8509	0.70295	0.0:1.0:0.0:0.0	.	26;87;179	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	H	26;179;87	ENSP00000441992:Q26H;ENSP00000356825:Q179H;ENSP00000356822:Q87H	ENSP00000356822:Q87H	Q	-	3	2	ADCY10	166135390	1.000000	0.71417	0.999000	0.59377	0.044000	0.14063	3.136000	0.50554	2.630000	0.89119	0.650000	0.86243	CAG		0.507	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	30	0	0	0	1	0	8	30				
ZNF276	92822	broad.mit.edu	37	16	89799803	89799803	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:89799803G>C	ENST00000443381.2	+	7	1360	c.1263G>C	c.(1261-1263)aaG>aaC	p.K421N	ZNF276_ENST00000446326.2_Missense_Mutation_p.K207N|ZNF276_ENST00000289816.5_Missense_Mutation_p.K346N|ZNF276_ENST00000568064.1_Missense_Mutation_p.K329N	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GATGGAAGAAGAAGCTTCGTT	0.552																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1036-1038)aaG>aaC		zinc finger protein 276							123.0	137.0	133.0					16																	89799803		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799803G>C	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1263G>C	16.37:g.89799803G>C	ENSP00000415836:p.Lys421Asn					ZNF276_ENST00000446326.2_Missense_Mutation_p.K207N|ZNF276_ENST00000568064.1_Missense_Mutation_p.K329N|ZNF276_ENST00000443381.2_Missense_Mutation_p.K421N	p.K346N	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	1350	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	421					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1038G>C	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	9.220	1.033200	0.19590	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06608	3.32;3.28;3.33	5.88	-2.29	0.06805	.	0.408748	0.28052	N	0.016790	T	0.02767	0.0083	N	0.08118	0	0.28422	N	0.917693	B;B;B;B	0.12013	0.002;0.002;0.002;0.005	B;B;B;B	0.11329	0.001;0.002;0.002;0.006	T	0.42155	-0.9468	10	0.20519	T	0.43	-0.3738	10.171	0.42911	0.6637:0.1363:0.2001:0.0	.	259;421;207;346	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	N	207;346;421	ENSP00000415999:K207N;ENSP00000289816:K346N;ENSP00000415836:K421N	ENSP00000289816:K346N	K	+	3	2	ZNF276	88327304	0.726000	0.28059	0.000000	0.03702	0.098000	0.18820	-0.180000	0.09754	-0.692000	0.05128	-0.302000	0.09304	AAG		0.552	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		55	235	0	0	0	1	0	55	235				
CARF	79800	broad.mit.edu	37	2	203839200	203839200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:203839200C>G	ENST00000402905.3	+	12	1796	c.1475C>G	c.(1474-1476)tCa>tGa	p.S492*	CARF_ENST00000438828.2_Nonsense_Mutation_p.S492*|CARF_ENST00000428585.1_Nonsense_Mutation_p.S416*|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Nonsense_Mutation_p.S416*|CARF_ENST00000320443.8_Nonsense_Mutation_p.S492*|CARF_ENST00000414439.1_Nonsense_Mutation_p.S390*|CARF_ENST00000545253.1_Nonsense_Mutation_p.S404*	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	492					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTATATAACTCAGAGATTATT	0.308																																						ENST00000320443.8																			0											c.(1474-1476)tCa>tGa		calcium responsive transcription factor							80.0	80.0	80.0					2																	203839200		1830	4071	5901	SO:0001587	stop_gained	79800							g.chr2:203839200C>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1475C>G	2.37:g.203839200C>G	ENSP00000384006:p.Ser492*					CARF_ENST00000438828.2_Nonsense_Mutation_p.S492*|CARF_ENST00000428585.1_Nonsense_Mutation_p.S416*|CARF_ENST00000402905.2_Nonsense_Mutation_p.S492*|CARF_ENST00000545262.1_Nonsense_Mutation_p.S416*|CARF_ENST00000414439.1_Nonsense_Mutation_p.S390*|CARF_ENST00000545253.1_Nonsense_Mutation_p.S404*|WDR12_ENST00000477723.1_Intron	p.S492*							12	2518	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Nonsense_Mutation	SNP	ENST00000402905.3	37	c.1475C>G	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	45	11.890375	0.99614	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.04	5.04	0.67666	.	0.217995	0.32161	N	0.006496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.1214	17.7465	0.88422	0.0:1.0:0.0:0.0	.	.	.	.	X	492;390;416;404;416;492;492	.	ENSP00000316224:S492X	S	+	2	0	ALS2CR8	203547445	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.121000	0.64691	2.494000	0.84150	0.557000	0.71058	TCA		0.308	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		15	59	0	0	0	1	0	15	59				
ATP1A1	476	broad.mit.edu	37	1	116946585	116946585	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:116946585C>A	ENST00000295598.5	+	22	3283	c.3031C>A	c.(3031-3033)Cga>Aga	p.R1011R	ATP1A1OS_ENST00000369491.1_RNA|ATP1A1_ENST00000369496.4_Silent_p.R980R|ATP1A1_ENST00000537345.1_Silent_p.R1011R|ATP1A1OS_ENST00000369492.4_RNA	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1011					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1011*(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CATCATCAGGCGACGCCCTGG	0.483																																						ENST00000537345.1																			1	Substitution - Nonsense(1)	p.R1011*(1)	lung(1)	NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(3031-3033)Cga>Aga		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						147.0	144.0	145.0					1																	116946585		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116946585C>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.3031C>A	1.37:g.116946585C>A						ATP1A1_ENST00000295598.5_Silent_p.R1011R|ATP1A1_ENST00000369496.4_Silent_p.R980R	p.R1011R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	22	3394	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	1011					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.3031C>A	CCDS887.1																																																																																				0.483	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		28	80	1	0	7.26314e-15	1	7.69959e-15	28	80				
TARSL2	123283	broad.mit.edu	37	15	102242581	102242581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:102242581G>C	ENST00000335968.3	-	9	1298	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	361					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAATATGTTGAGGAATTCTA	0.338																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1081-1083)tCa>tGa		threonyl-tRNA synthetase-like 2							97.0	88.0	91.0					15																	102242581		2203	4300	6503	SO:0001587	stop_gained	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242581G>C	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1082C>G	15.37:g.102242581G>C	ENSP00000338093:p.Ser361*						p.S361*	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1298	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		361					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	ENST00000335968.3	37	c.1082C>G	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	38	6.982236	0.97979	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	4.57	0.56435	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.4978	12.098	0.53765	0.083:0.0:0.917:0.0	.	.	.	.	X	361;266;361	.	ENSP00000329291:S266X	S	-	2	0	TARSL2	100060104	1.000000	0.71417	0.860000	0.33809	0.973000	0.67179	6.478000	0.73596	1.323000	0.45263	0.655000	0.94253	TCA		0.338	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		10	53	0	0	0	1	0	10	53				
ZMYND19	116225	broad.mit.edu	37	9	140482182	140482182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:140482182G>A	ENST00000298585.2	-	3	431	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	69						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCAGCTCATGAAGGAGTCTC	0.597																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(205-207)Cat>Tat		zinc finger, MYND-type containing 19							155.0	169.0	164.0					9																	140482182		2203	4300	6503	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140482182G>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.205C>T	9.37:g.140482182G>A	ENSP00000298585:p.His69Tyr					ZMYND19_ENST00000471957.1_5'UTR	p.H69Y	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	431	-	all_cancers(76;0.106)		69					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.205C>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985456	0.74589	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.04	5.04	0.67666	.	0.098020	0.64402	D	0.000002	D	0.85053	0.5609	M	0.90705	3.14	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	D	0.88493	0.3077	9	0.87932	D	0	-32.1607	16.975	0.86310	0.0:0.0:1.0:0.0	.	69	Q96E35	ZMY19_HUMAN	Y	69	.	ENSP00000298585:H69Y	H	-	1	0	ZMYND19	139602003	1.000000	0.71417	0.951000	0.38953	0.536000	0.34869	9.515000	0.98015	2.334000	0.79466	0.655000	0.94253	CAT		0.597	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		33	162	0	0	0	1	0	33	162				
LYPLAL1	127018	broad.mit.edu	37	1	219347232	219347232	+	De_novo_Start_InFrame	SNP	G	G	A	rs375703271		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:219347232G>A	ENST00000366928.5	+	0	47				LYPLAL1_ENST00000366927.3_De_novo_Start_InFrame|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1						negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCATCAGCGATGGCGGCTG	0.692																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6								lysophospholipase-like 1							44.0	41.0	42.0					1																	219347232		2200	4297	6497			127018					cytoplasm	lysophospholipase activity	g.chr1:219347232G>A	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141		1.37:g.219347232G>A						LYPLAL1_ENST00000366927.3_De_novo_Start_InFrame|RP11-135J2.4_ENST00000441331.1_RNA		NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	0	47	+								A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Translation_Start_Site	SNP	ENST00000366928.5	37		CCDS1522.1																																																																																				0.692	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		8	68	0	0	0	1	0	8	68				
LILRB5	10990	broad.mit.edu	37	19	54760058	54760058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:54760058G>A	ENST00000316219.5	-	4	610	c.503C>T	c.(502-504)tCa>tTa	p.S168L	LILRB5_ENST00000449561.2_Missense_Mutation_p.S168L|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S159L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	168	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCTTCTGTGAGTACAGGGT	0.547																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(475-477)tCa>tTa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							60.0	70.0	67.0					19																	54760058		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760058G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.503C>T	19.37:g.54760058G>A	ENSP00000320390:p.Ser168Leu					LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.S168L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S168L	p.S159L			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	553	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		168			Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.476C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417219	0.42918	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00711	5.8;5.8;5.8	3.19	2.11	0.27256	Immunoglobulin-like fold (1);	2.777340	0.01167	N	0.006778	T	0.04497	0.0123	M	0.73372	2.23	0.09310	N	1	D;P;D	0.89917	1.0;0.776;0.991	D;B;P	0.91635	0.999;0.376;0.865	T	0.32745	-0.9895	10	0.87932	D	0	.	8.2683	0.31829	0.0:0.2462:0.7538:0.0	.	159;168;168	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	L	168;159;168	ENSP00000320390:S168L;ENSP00000414225:S159L;ENSP00000406478:S168L	ENSP00000320390:S168L	S	-	2	0	LILRB5	59451870	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	0.239000	0.18023	0.653000	0.30826	0.390000	0.25778	TCA		0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			23	93	0	0	0	1	0	23	93				
MYO1B	4430	broad.mit.edu	37	2	192225454	192225454	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225454C>T	ENST00000392318.3	+	8	907	c.660C>T	c.(658-660)ctC>ctT	p.L220L	MYO1B_ENST00000339514.4_Splice_Site_p.L220L|MYO1B_ENST00000304164.4_Splice_Site_p.L220L|MYO1B_ENST00000392316.1_Splice_Site_p.L220L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	220	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAGAGCTCCTCAGTAAGTCTC	0.453																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e8+1		myosin IB							160.0	151.0	154.0					2																	192225454		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225454C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.661+1C>T	2.37:g.192225454C>T						MYO1B_ENST00000392316.1_Splice_Site_p.L220_splice|MYO1B_ENST00000339514.4_Splice_Site_p.L220_splice|MYO1B_ENST00000304164.4_Splice_Site_p.L220_splice	p.L220_splice	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	907	+			220			Myosin head-like.		O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	c.661_splice	CCDS46477.1																																																																																				0.453	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Silent	26	72	0	0	0	1	0	26	72				
GOLGA8DP	100132979	broad.mit.edu	37	15	22706012	22706012	+	RNA	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:22706012G>A	ENST00000314246.8	-	0	1750				RN7SL545P_ENST00000495815.2_RNA|AC116165.1_ENST00000408073.1_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCACTCACTGATGGCATCCC	0.587																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22706012G>A			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22706012G>A														0	1750	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	.	1.948	-0.441901	0.04604	.	.	ENSG00000185182	ENST00000341390;ENST00000314246	.	.	.	0.906	-1.81	0.07882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	2.9956	0.05997	0.4738:0.2363:0.2899:0.0	.	.	.	.	X	285	.	ENSP00000327024:Q285X	Q	-	1	0	AC116165.1	20257376	0.438000	0.25602	0.003000	0.11579	0.006000	0.05464	-0.825000	0.04433	-1.081000	0.03105	-1.254000	0.01491	CAG		0.587	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		44	161	0	0	0	1	0	44	161				
FARSB	10056	broad.mit.edu	37	2	223497946	223497946	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:223497946G>A	ENST00000281828.6	-	7	950	c.687C>T	c.(685-687)gtC>gtT	p.V229V	FARSB_ENST00000536361.1_Silent_p.V130V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	229					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAAAGGACGACACCATTGC	0.343																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(685-687)gtC>gtT		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						123.0	121.0	121.0					2																	223497946		2203	4299	6502	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223497946G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.687C>T	2.37:g.223497946G>A						FARSB_ENST00000536361.1_Silent_p.V130V	p.V229V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	7	950	-		Renal(207;0.0183)	229					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.687C>T	CCDS2454.1																																																																																				0.343	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		5	85	0	0	0	1	0	5	85				
MAP2K7	5609	broad.mit.edu	37	19	7975451	7975451	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975451C>A	ENST00000397979.3	+	5	615	c.561C>A	c.(559-561)atC>atA	p.I187I	MAP2K7_ENST00000397981.3_Silent_p.I187I|MAP2K7_ENST00000545011.1_Silent_p.I229I|MAP2K7_ENST00000397983.3_Silent_p.I203I|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGACGTTCATCACCAACGTGA	0.632																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(685-687)atC>atA		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						64.0	65.0	65.0					19																	7975451		2163	4262	6425	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975451C>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.561C>A	19.37:g.7975451C>A						MAP2K7_ENST00000397981.3_Silent_p.I187I|MAP2K7_ENST00000397979.3_Silent_p.I187I|MAP2K7_ENST00000397983.3_Silent_p.I203I	p.I229I			O14733	MP2K7_HUMAN			5	752	+			187			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.687C>A	CCDS42491.1																																																																																				0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			13	41	1	0	4.36969e-10	1	4.56498e-10	13	41				
C3orf62	375341	broad.mit.edu	37	3	49314082	49314082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49314082G>A	ENST00000343010.3	-	1	1260	c.224C>T	c.(223-225)tCt>tTt	p.S75F	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	75										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGAGCAGCAGAAGAGCAGGC	0.587																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(223-225)tCt>tTt		chromosome 3 open reading frame 62							90.0	88.0	88.0					3																	49314082		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49314082G>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.224C>T	3.37:g.49314082G>A	ENSP00000341139:p.Ser75Phe						p.S75F	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1260	-			75					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.224C>T	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172944	0.38413	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.48522	0.81;0.81	4.56	3.61	0.41365	.	0.426922	0.17547	N	0.170340	T	0.33294	0.0858	L	0.29908	0.895	0.09310	N	1	B	0.33171	0.4	B	0.31337	0.128	T	0.26538	-1.0100	10	0.59425	D	0.04	-1.5813	8.9109	0.35552	0.0:0.0:0.7607:0.2393	.	75	Q6ZUJ4	CC062_HUMAN	F	75;73	ENSP00000341139:S75F;ENSP00000413663:S73F	ENSP00000341139:S75F	S	-	2	0	C3orf62	49289086	0.005000	0.15991	0.008000	0.14137	0.204000	0.24138	0.197000	0.17197	2.359000	0.80004	0.650000	0.86243	TCT		0.587	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		22	85	0	0	0	1	0	22	85				
CHST15	51363	broad.mit.edu	37	10	125780896	125780896	+	Missense_Mutation	SNP	G	G	A	rs375217023		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:125780896G>A	ENST00000346248.5	-	6	1865	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	CHST15_ENST00000435907.1_Missense_Mutation_p.S408L|CHST15_ENST00000421115.1_Missense_Mutation_p.S408L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	408					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGATTTATTCGAACTTGCAAA	0.423																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1222-1224)tCg>tTg		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	LEU/SER,LEU/SER	0,4406		0,0,2203	88.0	80.0	83.0		1223,1223	4.7	1.0	10		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHST15	NM_014863.2,NM_015892.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	408/507,408/562	125780896	1,13005	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125780896G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1223C>T	10.37:g.125780896G>A	ENSP00000333947:p.Ser408Leu					CHST15_ENST00000421115.1_Missense_Mutation_p.S408L|CHST15_ENST00000435907.1_Missense_Mutation_p.S408L	p.S408L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			6	1865	-			408					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1223C>T	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027813	0.75390	0.0	1.16E-4	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	D;D;T	0.81499	-1.5;-1.5;0.65	4.69	4.69	0.59074	Sulfotransferase domain (1);	0.269330	0.32106	N	0.006571	T	0.54319	0.1851	N	0.03000	-0.44	0.48975	D	0.999738	P;P	0.51791	0.948;0.726	B;B	0.31812	0.128;0.136	T	0.62651	-0.6809	10	0.19590	T	0.45	-16.6639	17.6232	0.88087	0.0:0.0:1.0:0.0	.	408;408	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	L	408	ENSP00000333947:S408L;ENSP00000402394:S408L;ENSP00000412477:S408L	ENSP00000333947:S408L	S	-	2	0	CHST15	125770886	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.957000	0.87870	2.149000	0.67028	0.563000	0.77884	TCG		0.423	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		7	28	0	0	0	1	0	7	28				
MYO5B	4645	broad.mit.edu	37	18	47404207	47404207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:47404207C>G	ENST00000285039.7	-	25	3621	c.3322G>C	c.(3322-3324)Gaa>Caa	p.E1108Q	MYO5B_ENST00000324581.6_Missense_Mutation_p.E249Q|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1108					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCAGATTCTAAGCTACTT	0.468																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3322-3324)Gaa>Caa		myosin VB							274.0	265.0	268.0					18																	47404207		1990	4161	6151	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404207C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3322G>C	18.37:g.47404207C>G	ENSP00000285039:p.Glu1108Gln					MYO5B_ENST00000324581.6_Missense_Mutation_p.E249Q	p.E1108Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3621	-			1108					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3322G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733586	0.89482	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.9	5.9	0.94986	.	0.113627	0.64402	D	0.000014	T	0.27278	0.0669	N	0.08118	0	0.58432	D	0.999998	B;D	0.76494	0.054;0.999	B;D	0.64506	0.058;0.926	T	0.19257	-1.0311	10	0.32370	T	0.25	.	19.8926	0.96935	0.0:1.0:0.0:0.0	.	1108;249	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1108;249	ENSP00000285039:E1108Q;ENSP00000315531:E249Q	ENSP00000285039:E1108Q	E	-	1	0	MYO5B	45658205	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.281000	0.78621	2.806000	0.96561	0.655000	0.94253	GAA		0.468	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	128	0	0	0	1	0	6	128				
HSD11B2	3291	broad.mit.edu	37	16	67470617	67470617	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67470617C>T	ENST00000326152.5	+	5	1061	c.929C>T	c.(928-930)tCg>tTg	p.S310L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	310					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		TTCCTGCACTCGCTACGCCTG	0.627																																						ENST00000326152.5																			0				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(928-930)tCg>tTg		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						109.0	93.0	99.0					16																	67470617		2198	4300	6498	SO:0001583	missense	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470617C>T	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.929C>T	16.37:g.67470617C>T	ENSP00000316786:p.Ser310Leu						p.S310L	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1061	+		Ovarian(137;0.0563)	310					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	c.929C>T	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.462859	0.01062	.	.	ENSG00000176387	ENST00000326152	D	0.90133	-2.62	5.03	1.94	0.25998	NAD(P)-binding domain (1);	0.559495	0.19376	N	0.115776	T	0.78400	0.4277	L	0.28740	0.885	0.09310	N	1	B	0.22414	0.069	B	0.16289	0.015	T	0.58747	-0.7582	10	0.11485	T	0.65	.	1.6362	0.02743	0.3356:0.3672:0.1631:0.1341	.	310	P80365	DHI2_HUMAN	L	310	ENSP00000316786:S310L	ENSP00000316786:S310L	S	+	2	0	HSD11B2	66028118	0.004000	0.15560	0.013000	0.15412	0.001000	0.01503	1.234000	0.32660	0.503000	0.28060	-0.311000	0.09066	TCG		0.627	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		19	129	0	0	0	1	0	19	129				
ZNF229	7772	broad.mit.edu	37	19	44936400	44936400	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44936400G>A	ENST00000588931.1	-	5	668	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	ZNF229_ENST00000291187.4_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CAATTACCCAGAGGATTCCTC	0.438																																						ENST00000588931.1																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(235-237)Ctg>Ttg		zinc finger protein 229							82.0	91.0	88.0					19																	44936400		2193	4296	6489	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44936400G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.235C>T	19.37:g.44936400G>A						ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Intron|CTC-512J12.4_ENST00000588655.1_RNA	p.L79L	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN			5	668	-		Prostate(69;0.0352)	79			KRAB.		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.235C>T	CCDS42574.1																																																																																				0.438	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		14	106	0	0	0	1	0	14	106				
DDX42	11325	broad.mit.edu	37	17	61899169	61899169	+	IGR	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:61899169C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.E504K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCTCCTCCTCCTCTTTATCA	0.527																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1510-1512)Gag>Aag		FtsJ homolog 3 (E. coli)							199.0	154.0	169.0					17																	61899169		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899169C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899169C>T							p.E504K	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2155	-			504					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1510G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470130	0.26423	.	.	ENSG00000108592	ENST00000427159	T	0.30182	1.54	5.16	5.16	0.70880	.	0.247523	0.39341	N	0.001382	T	0.26268	0.0641	L	0.27053	0.805	0.54753	D	0.999981	P	0.52463	0.953	P	0.47603	0.551	T	0.01635	-1.1307	10	0.07990	T	0.79	-15.9819	16.1844	0.81939	0.0:1.0:0.0:0.0	.	504	Q8IY81	RRMJ3_HUMAN	K	504	ENSP00000396673:E504K	ENSP00000396673:E504K	E	-	1	0	FTSJ3	59252901	0.153000	0.22777	0.924000	0.36721	0.078000	0.17371	2.155000	0.42301	2.684000	0.91462	0.557000	0.71058	GAG		0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		19	154	0	0	0	1	0	19	154				
ANPEP	290	broad.mit.edu	37	15	90335531	90335531	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:90335531G>C	ENST00000300060.6	-	18	2701	c.2388C>G	c.(2386-2388)gtC>gtG	p.V796V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	796	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGTTGCAGTAGACGGTGGACC	0.647																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2386-2388)gtC>gtG		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						123.0	128.0	126.0					15																	90335531		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90335531G>C	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2388C>G	15.37:g.90335531G>C							p.V796V	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		18	2701	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		796			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2388C>G	CCDS10356.1																																																																																				0.647	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			31	170	0	0	0	1	0	31	170				
CLCA2	9635	broad.mit.edu	37	1	86921183	86921183	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921183G>C	ENST00000370565.4	+	14	2967	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	935					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGCAGACAAGAAAGAGAATG	0.323																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2803-2805)aaG>aaC		chloride channel accessory 2							51.0	55.0	54.0					1																	86921183		2189	4295	6484	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921183G>C		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2805G>C	1.37:g.86921183G>C	ENSP00000359596:p.Lys935Asn						p.K935N	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2967	+		Lung NSC(277;0.238)	935					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2805G>C	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	5.763	0.325121	0.10900	.	.	ENSG00000137975	ENST00000370565	T	0.03242	4.0	5.62	-3.06	0.05379	.	0.562621	0.17930	N	0.157202	T	0.00815	0.0027	L	0.38838	1.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46400	-0.9194	10	0.19590	T	0.45	-4.0984	7.4532	0.27250	0.4943:0.3008:0.2049:0.0	.	935	Q9UQC9	CLCA2_HUMAN	N	935	ENSP00000359596:K935N	ENSP00000359596:K935N	K	+	3	2	CLCA2	86693771	0.598000	0.26882	0.005000	0.12908	0.464000	0.32679	0.850000	0.27737	-0.512000	0.06505	0.591000	0.81541	AAG		0.323	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		9	61	0	0	0	1	0	9	61				
RGS3	5998	broad.mit.edu	37	9	116353612	116353612	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:116353612G>A	ENST00000374140.2	+	22	3224		c.e22-1		RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000374134.3_Splice_Site|RGS3_ENST00000350696.5_Splice_Site|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000462143.1_Splice_Site	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCTCCGCAGATGAGCGGGG	0.572																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e22-1		regulator of G-protein signaling 3							93.0	82.0	86.0					9																	116353612		2203	4300	6503	SO:0001630	splice_region_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353612G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3016-1G>A	9.37:g.116353612G>A						RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000462143.1_Splice_Site|RGS3_ENST00000350696.5_Splice_Site|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000374134.3_Splice_Site		NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			22	3224	+								A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	ENST00000374140.2	37		CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999764	0.35320	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9719	0.71241	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS3	115393433	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	6.314000	0.72848	2.303000	0.77524	0.555000	0.69702	.		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Intron	7	54	0	0	0	1	0	7	54				
MMRN1	22915	broad.mit.edu	37	4	90857709	90857709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:90857709C>T	ENST00000394980.1	+	7	3197	c.2878C>T	c.(2878-2880)Cag>Tag	p.Q960*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q702*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q960*			Q13201	MMRN1_HUMAN	multimerin 1	960					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAACTTCTTCAGAAAGGTCT	0.368																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2878-2880)Cag>Tag		multimerin 1							56.0	57.0	57.0					4																	90857709		2203	4299	6502	SO:0001587	stop_gained	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857709C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2878C>T	4.37:g.90857709C>T	ENSP00000378431:p.Gln960*					MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q702*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q960*	p.Q960*			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3197	+		Hepatocellular(203;0.114)	960					Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	c.2878C>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	39	7.680765	0.98428	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.1	5.1	0.69264	.	0.248378	0.35262	N	0.003329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.4113	0.94673	0.0:1.0:0.0:0.0	.	.	.	.	X	960;960;702	.	ENSP00000264790:Q960X	Q	+	1	0	MMRN1	91076732	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	2.316000	0.43761	2.756000	0.94617	0.655000	0.94253	CAG		0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		17	65	0	0	0	1	0	17	65				
ATP12A	479	broad.mit.edu	37	13	25274966	25274966	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:25274966C>G	ENST00000381946.3	+	13	1954	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.S602C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	596					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTTCCGACCTCCAACCTCTGT	0.493																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1804-1806)tCc>tGc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						159.0	143.0	148.0					13																	25274966		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25274966C>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1787C>G	13.37:g.25274966C>G	ENSP00000371372:p.Ser596Cys					ATP12A_ENST00000381946.3_Missense_Mutation_p.S596C	p.S602C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	2138	+		Lung SC(185;0.0225)|Breast(139;0.077)	596					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1805C>G	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166114	0.38217	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80738	-1.41;-1.41	6.17	5.31	0.75309	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.075228	0.56097	N	0.000023	D	0.86957	0.6058	L	0.49256	1.55	0.33239	D	0.556946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.91023	0.4858	10	0.72032	D	0.01	.	15.2654	0.73657	0.0:0.8592:0.1408:0.0	.	602;596	P54707-2;P54707	.;AT12A_HUMAN	C	602;596	ENSP00000218548:S602C;ENSP00000371372:S596C	ENSP00000218548:S602C	S	+	2	0	ATP12A	24172966	0.572000	0.26668	0.188000	0.23233	0.121000	0.20230	2.469000	0.45110	1.578000	0.49821	0.655000	0.94253	TCC		0.493	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		21	62	0	0	0	1	0	21	62				
EXOG	9941	broad.mit.edu	37	3	38537876	38537876	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:38537876C>T	ENST00000287675.5	+	1	114	c.18C>T	c.(16-18)atC>atT	p.I6I	EXOG_ENST00000422077.2_Silent_p.I6I|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	6					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCAAGAGTATCGCTTCCCGCC	0.687											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(16-18)atC>atT		endo/exonuclease (5'-3'), endonuclease G-like							53.0	53.0	53.0					3																	38537876		2203	4300	6503	SO:0001819	synonymous_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537876C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.18C>T	3.37:g.38537876C>T			OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_ENST00000422077.2_Silent_p.I6I|EXOG_ENST00000358249.2_5'UTR	p.I6I	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			1	114	+			6					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Silent	SNP	ENST00000287675.5	37	c.18C>T	CCDS2680.1																																																																																				0.687	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		6	50	0	0	0	1	0	6	50				
STAB2	55576	broad.mit.edu	37	12	104031885	104031885	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:104031885C>G	ENST00000388887.2	+	8	1005	c.801C>G	c.(799-801)ggC>ggG	p.G267G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCAAGAAGGCTACCGTGGGG	0.498																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(799-801)ggC>ggG		stabilin 2							193.0	162.0	173.0					12																	104031885		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104031885C>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.801C>G	12.37:g.104031885C>G							p.G267G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			8	1005	+			267			EGF-like 4.			Silent	SNP	ENST00000388887.2	37	c.801C>G	CCDS31888.1																																																																																				0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	97	0	0	0	1	0	9	97				
TJP3	27134	broad.mit.edu	37	19	3746521	3746521	+	Missense_Mutation	SNP	C	C	G	rs202047874	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:3746521C>G	ENST00000541714.2	+	17	2511	c.2049C>G	c.(2047-2049)atC>atG	p.I683M	TJP3_ENST00000262968.9_Missense_Mutation_p.I716M|TJP3_ENST00000589378.1_Missense_Mutation_p.I692M|TJP3_ENST00000587686.1_Missense_Mutation_p.I702M|TJP3_ENST00000539908.2_Missense_Mutation_p.I647M|TJP3_ENST00000382008.3_Missense_Mutation_p.I697M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	683	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGCCATCGAGCGCCTCA	0.637																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2047-2049)atC>atG		tight junction protein 3							47.0	51.0	49.0					19																	3746521		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3746521C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2049C>G	19.37:g.3746521C>G	ENSP00000439278:p.Ile683Met					TJP3_ENST00000587686.1_Missense_Mutation_p.I702M|TJP3_ENST00000382008.3_Missense_Mutation_p.I697M|TJP3_ENST00000262968.9_Missense_Mutation_p.I716M|TJP3_ENST00000539908.2_Missense_Mutation_p.I647M|TJP3_ENST00000589378.1_Missense_Mutation_p.I692M	p.I683M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2511	+			697			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2049C>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677825	0.29783	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.05	-8.1	0.01086	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.235404	0.34906	N	0.003589	T	0.43700	0.1259	M	0.82823	2.61	0.44976	D	0.997994	B;P;B;P	0.48694	0.355;0.914;0.229;0.62	B;P;B;P	0.52066	0.306;0.689;0.253;0.488	T	0.57004	-0.7885	10	0.87932	D	0	.	2.9764	0.05939	0.0854:0.2603:0.2523:0.4019	.	702;716;697;683	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	M	683;647;697;716	ENSP00000439278:I683M;ENSP00000439991:I647M;ENSP00000371438:I697M;ENSP00000262968:I716M	ENSP00000262968:I716M	I	+	3	3	TJP3	3697521	0.352000	0.24895	0.027000	0.17364	0.528000	0.34623	-0.325000	0.07976	-1.868000	0.01142	-1.169000	0.01745	ATC		0.637	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			7	64	0	0	0	1	0	7	64				
ACKR2	1238	broad.mit.edu	37	3	42906894	42906894	+	Missense_Mutation	SNP	C	C	G	rs200987829		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:42906894C>G	ENST00000422265.1	+	3	1075	c.900C>G	c.(898-900)atC>atG	p.I300M	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.I300M|ACKR2_ENST00000442925.1_Missense_Mutation_p.I300M	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	300					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CAGAGAGCATCGCCTTCCTTC	0.547																																						ENST00000422265.1																			0											c.(898-900)atC>atG		atypical chemokine receptor 2							242.0	186.0	205.0					3																	42906894		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906894C>G	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.900C>G	3.37:g.42906894C>G	ENSP00000416996:p.Ile300Met					ACKR2_ENST00000273145.2_Missense_Mutation_p.I300M|ACKR2_ENST00000442925.1_Missense_Mutation_p.I300M|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	p.I300M	NM_001296.4	NP_001287.2					3	1075	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.900C>G	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685140	0.29872	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.38077	1.16;1.16;1.16	5.02	-7.86	0.01187	GPCR, rhodopsin-like superfamily (1);	1.132870	0.06864	N	0.799613	T	0.33411	0.0862	L	0.48218	1.51	0.80722	D	1	P	0.52170	0.951	P	0.49477	0.612	T	0.59841	-0.7378	9	.	.	.	.	9.3081	0.37887	0.0:0.1991:0.366:0.4349	.	300	O00590	CCBP2_HUMAN	M	300	ENSP00000396150:I300M;ENSP00000416996:I300M;ENSP00000273145:I300M	.	I	+	3	3	CCBP2	42881898	0.000000	0.05858	0.724000	0.30704	0.066000	0.16364	-3.401000	0.00483	-1.195000	0.02680	-1.087000	0.02190	ATC		0.547	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		10	254	0	0	0	1	0	10	254				
AQP4	361	broad.mit.edu	37	18	24445643	24445643	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:24445643C>G	ENST00000383168.4	-	1	139	c.11G>C	c.(10-12)aGa>aCa	p.R4T	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_5'Flank|AQP4_ENST00000440832.3_5'Flank	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	4					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGCTGTGGGTCTGTCACTCAT	0.527																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(10-12)aGa>aCa		aquaporin 4							107.0	108.0	107.0					18																	24445643		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445643C>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.11G>C	18.37:g.24445643C>G	ENSP00000372654:p.Arg4Thr					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.R4T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			1	139	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		4					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.11G>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826372	0.50739	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86030	-2.06	5.04	5.04	0.67666	.	1.106570	0.06710	N	0.772922	D	0.83622	0.5294	L	0.36672	1.1	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.66135	-0.5999	10	0.66056	D	0.02	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	4	P55087	AQP4_HUMAN	T	4;4;11	ENSP00000372654:R4T	ENSP00000372654:R4T	R	-	2	0	AQP4	22699641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.541000	0.60670	2.719000	0.93026	0.655000	0.94253	AGA		0.527	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		10	122	0	0	0	1	0	10	122				
HPN	3249	broad.mit.edu	37	19	35556164	35556164	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556164G>A	ENST00000262626.2	+	10	1647	c.822G>A	c.(820-822)caG>caA	p.Q274Q	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.Q274Q|HPN_ENST00000597419.1_Silent_p.Q116Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AATACATCCAGCCTGTGTGCC	0.612																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(820-822)caG>caA		hepsin	Coagulation factor VIIa(DB00036)						74.0	58.0	64.0					19																	35556164		2203	4300	6503	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556164G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.822G>A	19.37:g.35556164G>A						HPN_ENST00000597419.1_Silent_p.Q116Q|HPN_ENST00000392226.1_Silent_p.Q274Q|HPN-AS1_ENST00000392227.2_RNA	p.Q274Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1647	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		274			Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.822G>A	CCDS32993.1																																																																																				0.612	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		5	45	0	0	0	1	0	5	45				
JAG2	3714	broad.mit.edu	37	14	105609913	105609913	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105609913G>A	ENST00000331782.3	-	25	3550	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	JAG2_ENST00000347004.2_Silent_p.I1011I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1049					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGGCGGCCACGATGGCGTGGG	0.657																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3145-3147)atC>atT		jagged 2							38.0	34.0	35.0					14																	105609913		2192	4293	6485	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609913G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3147C>T	14.37:g.105609913G>A						JAG2_ENST00000347004.2_Silent_p.I1011I	p.I1049I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3550	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1049					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.3147C>T	CCDS9998.1																																																																																				0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			5	14	0	0	0	1	0	5	14				
ZNF394	84124	broad.mit.edu	37	7	99091605	99091605	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99091605C>T	ENST00000337673.6	-	3	1436	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	411					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTACGGCTTCTCGCCTGTGT	0.498																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1231-1233)gaG>gaA		zinc finger protein 394							99.0	99.0	99.0					7																	99091605		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091605C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1233G>A	7.37:g.99091605C>T						ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.E411E	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1436	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		411					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.1233G>A	CCDS5666.1																																																																																				0.498	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		10	51	0	0	0	1	0	10	51				
GAPVD1	26130	broad.mit.edu	37	9	128064368	128064368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064368G>A	ENST00000495955.1	+	5	582	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GAPVD1_ENST00000265956.4_Missense_Mutation_p.E98K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E98K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E98K|GAPVD1_ENST00000394084.1_Missense_Mutation_p.E98K|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E98K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	98					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTTATGGAGAATTCTTGAG	0.408																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(292-294)Gaa>Aaa		GTPase activating protein and VPS9 domains 1							156.0	156.0	156.0					9																	128064368		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128064368G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.292G>A	9.37:g.128064368G>A	ENSP00000419063:p.Glu98Lys					GAPVD1_ENST00000394105.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E98K|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E98K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E98K|GAPVD1_ENST00000394084.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E98K	p.E98K			Q14C86	GAPD1_HUMAN			3	452	+			98					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.292G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.089367	0.94149	.	.	ENSG00000165219	ENST00000461379;ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.73	5.73	0.89815	Rho GTPase activation protein (1);	0.103143	0.64402	D	0.000002	D	0.89543	0.6745	L	0.55481	1.735	0.80722	D	1	P;D;D;D;B;P	0.56035	0.956;0.974;0.974;0.974;0.077;0.469	D;D;D;D;B;B	0.70487	0.931;0.969;0.969;0.969;0.046;0.205	D	0.89744	0.3935	10	0.72032	D	0.01	.	18.9041	0.92454	0.0:0.0:1.0:0.0	.	98;98;98;98;98;98	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	GAPD1_HUMAN;.;.;.;.;.	K	98	ENSP00000377646:E98K;ENSP00000419767:E98K;ENSP00000377665:E98K;ENSP00000377664:E98K;ENSP00000265956:E98K;ENSP00000377645:E98K;ENSP00000419063:E98K;ENSP00000418747:E98K;ENSP00000297933:E98K;ENSP00000309582:E98K	ENSP00000265956:E98K	E	+	1	0	GAPVD1	127104189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.197000	0.94985	2.704000	0.92352	0.655000	0.94253	GAA		0.408	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			16	103	0	0	0	1	0	16	103				
TTC16	158248	broad.mit.edu	37	9	130479958	130479958	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:130479958C>T	ENST00000373289.3	+	4	413	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PTRH1_ENST00000423807.1_5'Flank|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	111										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTGTGACTTCTCCTCGGCCG	0.607																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(331-333)ttC>ttT		tetratricopeptide repeat domain 16							73.0	68.0	70.0					9																	130479958		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130479958C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.333C>T	9.37:g.130479958C>T						PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	p.F111F	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			4	413	+			111					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.333C>T	CCDS6875.1																																																																																				0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		17	70	0	0	0	1	0	17	70				
MPP6	51678	broad.mit.edu	37	7	24705276	24705276	+	Missense_Mutation	SNP	G	G	A	rs553331911		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705276G>A	ENST00000222644.5	+	7	1103	c.853G>A	c.(853-855)Gca>Aca	p.A285T	MPP6_ENST00000396475.2_Missense_Mutation_p.A285T|MPP6_ENST00000409761.1_Missense_Mutation_p.A173T			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GAAGAGAAAGGCATTTGTTAG	0.418																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(853-855)Gca>Aca		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							117.0	111.0	113.0					7																	24705276		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24705276G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.853G>A	7.37:g.24705276G>A	ENSP00000222644:p.Ala285Thr					MPP6_ENST00000409761.1_Missense_Mutation_p.A173T|MPP6_ENST00000222644.4_Missense_Mutation_p.A285T	p.A285T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			8	1152	+			285					B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.853G>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209573	0.95069	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.16	5.16	0.70880	Src homology-3 domain (1);	0.000000	0.53938	D	0.000051	D	0.92606	0.7651	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93746	0.7054	10	0.66056	D	0.02	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	285	Q9NZW5	MPP6_HUMAN	T	285;173;285;285	ENSP00000222644:A285T;ENSP00000386262:A173T;ENSP00000379737:A285T;ENSP00000391020:A285T	ENSP00000222644:A285T	A	+	1	0	MPP6	24671801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.392000	0.81423	0.591000	0.81541	GCA		0.418	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			4	45	0	0	0	1	0	4	45				
ENPP7	339221	broad.mit.edu	37	17	77710960	77710960	+	Missense_Mutation	SNP	G	G	C	rs147161136		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77710960G>C	ENST00000328313.5	+	4	1368	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCCTTTGAGAGCGTCCA	0.622																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1147-1149)Gag>Cag		ectonucleotide pyrophosphatase/phosphodiesterase 7							79.0	67.0	71.0					17																	77710960		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710960G>C	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1147G>C	17.37:g.77710960G>C	ENSP00000332656:p.Glu383Gln						p.E383Q	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1368	+			383						Missense_Mutation	SNP	ENST00000328313.5	37	c.1147G>C	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140395	0.77775	.	.	ENSG00000182156	ENST00000328313	T	0.75367	-0.93	3.51	2.52	0.30459	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.057878	0.64402	D	0.000002	T	0.74921	0.3780	N	0.21282	0.65	0.50171	D	0.999859	D	0.76494	0.999	D	0.72982	0.979	T	0.75918	-0.3148	10	0.66056	D	0.02	-37.4198	11.1165	0.48264	0.0929:0.0:0.9071:0.0	.	383	Q6UWV6	ENPP7_HUMAN	Q	383	ENSP00000332656:E383Q	ENSP00000332656:E383Q	E	+	1	0	ENPP7	75325555	1.000000	0.71417	0.980000	0.43619	0.917000	0.54804	7.650000	0.83521	0.814000	0.34374	0.561000	0.74099	GAG		0.622	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		18	60	0	0	0	1	0	18	60				
ANKMY1	51281	broad.mit.edu	37	2	241465732	241465732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:241465732C>T	ENST00000272972.3	-	5	1031	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E362K|ANKMY1_ENST00000391987.1_Missense_Mutation_p.E273K|ANKMY1_ENST00000373320.4_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	273							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAAATCCATTCGTGGTTCCCT	0.572																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(817-819)Gaa>Aaa		ankyrin repeat and MYND domain containing 1							172.0	149.0	157.0					2																	241465732		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241465732C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.817G>A	2.37:g.241465732C>T	ENSP00000272972:p.Glu273Lys					ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E362K|ANKMY1_ENST00000272972.3_Missense_Mutation_p.E273K|ANKMY1_ENST00000373318.2_Intron	p.E273K			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1183	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	273					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.817G>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	6.152	0.396204	0.11638	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804	T;T;T	0.64991	-0.13;-0.13;-0.13	4.1	3.21	0.36854	Ankyrin repeat-containing domain (3);	0.519314	0.19841	N	0.104844	T	0.42108	0.1188	L	0.28556	0.865	0.19775	N	0.999951	B;B	0.19445	0.036;0.036	B;B	0.09377	0.004;0.004	T	0.22977	-1.0201	10	0.05833	T	0.94	-10.3851	9.5759	0.39457	0.0:0.8927:0.0:0.1073	.	273;273	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	K	273;273;362	ENSP00000272972:E273K;ENSP00000375847:E273K;ENSP00000385887:E362K	ENSP00000272972:E273K	E	-	1	0	ANKMY1	241114405	0.000000	0.05858	0.532000	0.27989	0.127000	0.20565	0.011000	0.13264	0.848000	0.35191	0.585000	0.79938	GAA		0.572	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		13	50	0	0	0	1	0	13	50				
GPR149	344758	broad.mit.edu	37	3	154146952	154146952	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:154146952G>A	ENST00000389740.2	-	1	552	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	151					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACCACGCCGAGCACCTGGC	0.642																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(451-453)ctC>ctT		G protein-coupled receptor 149							25.0	28.0	27.0					3																	154146952		2018	4178	6196	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146952G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.453C>T	3.37:g.154146952G>A							p.L151L	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	552	-			151						Silent	SNP	ENST00000389740.2	37	c.453C>T	CCDS43162.1																																																																																				0.642	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		4	59	0	0	0	1	0	4	59				
FKBP7	51661	broad.mit.edu	37	2	179334402	179334402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179334402C>T	ENST00000424785.2	-	3	542	c.484G>A	c.(484-486)Gac>Aac	p.D162N	FKBP7_ENST00000464248.1_Intron|FKBP7_ENST00000434643.2_Missense_Mutation_p.D161N	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	199	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGCTGCCTGTCATTGTCCATG	0.358																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(484-486)Gac>Aac		FK506 binding protein 7							213.0	207.0	209.0					2																	179334402		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179334402C>T	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.484G>A	2.37:g.179334402C>T	ENSP00000413152:p.Asp162Asn					FKBP7_ENST00000464248.1_Intron|FKBP7_ENST00000434643.2_Missense_Mutation_p.D161N	p.D162N	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	542	-			199			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.484G>A	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821770	0.90873	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.86956	-2.19;-2.19	5.34	5.34	0.76211	.	0.090816	0.85682	N	0.000000	D	0.89612	0.6765	.	.	.	0.80722	D	1	P;P	0.47034	0.75;0.889	B;P	0.49665	0.292;0.618	D	0.88927	0.3370	9	0.40728	T	0.16	-13.5273	19.0486	0.93032	0.0:1.0:0.0:0.0	.	161;162	Q9Y680-3;Q9Y680-2	.;.	N	162;197;161	ENSP00000413152:D162N;ENSP00000415486:D161N	ENSP00000335194:D197N	D	-	1	0	FKBP7	179042648	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.487000	0.66863	2.484000	0.83849	0.650000	0.86243	GAC		0.358	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		11	140	0	0	0	1	0	11	140				
BRD4	23476	broad.mit.edu	37	19	15367072	15367072	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15367072G>C	ENST00000263377.2	-	9	1775	c.1554C>G	c.(1552-1554)ctC>ctG	p.L518L	BRD4_ENST00000371835.4_Silent_p.L518L|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Silent_p.L518L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	518					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCACGGCTTTGAGCTGTAGAC	0.507			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1552-1554)ctC>ctG		bromodomain containing 4							106.0	106.0	106.0					19																	15367072		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15367072G>C	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1554C>G	19.37:g.15367072G>C						BRD4_ENST00000360016.5_Silent_p.L518L|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.L518L	p.L518L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1775	-			518					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.1554C>G	CCDS12328.1																																																																																				0.507	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		24	126	0	0	0	1	0	24	126				
PPP2R4	5524	broad.mit.edu	37	9	131882881	131882881	+	Missense_Mutation	SNP	C	C	T	rs200345986		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131882881C>T	ENST00000337738.1	+	2	388	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPP2R4_ENST00000393370.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.R41C|PPP2R4_ENST00000358994.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000357197.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000347048.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.R41C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	41					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAAATGGAAGCGTTCTCAGGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19145	0.0		0.001	False		,,,				2504	0.0				Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(121-123)Cgt>Tgt		protein phosphatase 2A activator, regulatory subunit 4		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	65.0	66.0	66.0		16,121,121,121,121	4.9	1.0	9		66	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	PPP2R4	NM_001193397.1,NM_021131.4,NM_178000.2,NM_178001.2,NM_178003.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	6/289,41/324,41/324,41/359,41/282	131882881	2,13004	2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131882881C>T	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.121C>T	9.37:g.131882881C>T	ENSP00000337448:p.Arg41Cys					PPP2R4_ENST00000358994.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000357197.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.R41C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.R41C|PPP2R4_ENST00000347048.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.R41C	p.R41C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	2	388	+		Medulloblastoma(224;0.235)	41					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.121C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.2	4.387441	0.82902	0.0	2.33E-4	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000347048;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.47;1.55;1.45;1.45;1.45;1.45;1.45;1.45	4.89	4.89	0.63831	.	0.059881	0.64402	D	0.000002	T	0.54255	0.1847	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;1.0;0.999;0.998;0.999;0.998	D;P;D;P;P;P;P	0.75020	0.985;0.888;0.959;0.871;0.784;0.892;0.733	T	0.58629	-0.7603	10	0.72032	D	0.01	-10.9074	16.631	0.85032	0.0:1.0:0.0:0.0	.	41;41;41;41;41;41;41	B4DLX5;Q15257-3;B4DZF8;Q68CR8;Q15257-4;Q15257;Q15257-2	.;.;.;.;.;PTPA_HUMAN;.	C	41;41;41;41;41;41;41;41;41;41;6;6;58;6	ENSP00000351885:R41C;ENSP00000395499:R41C;ENSP00000377036:R41C;ENSP00000337448:R41C;ENSP00000335200:R41C;ENSP00000394338:R41C;ENSP00000337412:R41C;ENSP00000349726:R41C;ENSP00000406997:R41C;ENSP00000347109:R41C;ENSP00000403542:R6C;ENSP00000393092:R6C;ENSP00000400314:R58C;ENSP00000393796:R6C	ENSP00000337448:R41C	R	+	1	0	PPP2R4	130922702	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.319000	0.65835	2.249000	0.74217	0.462000	0.41574	CGT		0.483	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		8	49	0	0	0	1	0	8	49				
GRM3	2913	broad.mit.edu	37	7	86415581	86415581	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:86415581C>A	ENST00000361669.2	+	3	1572	c.473C>A	c.(472-474)gCa>gAa	p.A158E	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A158E|GRM3_ENST00000394720.2_Missense_Mutation_p.A156E|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A30E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	158					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCTAGGTGGCAAACCTGCTG	0.507																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(472-474)gCa>gAa		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						157.0	171.0	166.0					7																	86415581		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415581C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.473C>A	7.37:g.86415581C>A	ENSP00000355316:p.Ala158Glu					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A156E|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A158E|GRM3_ENST00000536043.1_Missense_Mutation_p.A30E|GRM3_ENST00000546348.1_Intron	p.A158E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1572	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		158					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.473C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346182	0.82022	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96048	0.9029	10	0.87932	D	0	.	18.7805	0.91930	0.0:1.0:0.0:0.0	.	30;158;158	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	E	158;30;30;158;156	ENSP00000355316:A158E;ENSP00000405427:A30E;ENSP00000441407:A30E;ENSP00000398767:A158E;ENSP00000378209:A156E	ENSP00000355316:A158E	A	+	2	0	GRM3	86253517	1.000000	0.71417	0.979000	0.43373	0.678000	0.39670	7.732000	0.84908	2.693000	0.91896	0.655000	0.94253	GCA		0.507	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			34	163	1	0	6.90743e-12	1	7.24853e-12	34	163				
TNKS1BP1	85456	broad.mit.edu	37	11	57068053	57068053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57068053G>C	ENST00000532437.1	-	10	5462	c.5151C>G	c.(5149-5151)aaC>aaG	p.N1717K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1717K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1717	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTGAAGCCAGTTGGGCGACG	0.527																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(5149-5151)aaC>aaG		tankyrase 1 binding protein 1, 182kDa							174.0	149.0	158.0					11																	57068053		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57068053G>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5151C>G	11.37:g.57068053G>C	ENSP00000437271:p.Asn1717Lys					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1717K	p.N1717K			Q9C0C2	TB182_HUMAN			10	5462	-		all_epithelial(135;0.21)	1717			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.5151C>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521677	0.64747	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30448	1.53;1.53	5.06	1.07	0.20283	.	0.383888	0.24920	N	0.034543	T	0.23688	0.0573	L	0.47716	1.5	0.28727	N	0.902698	P;B	0.47762	0.9;0.288	B;B	0.41036	0.346;0.261	T	0.13764	-1.0497	10	0.62326	D	0.03	-18.4736	6.9264	0.24418	0.4621:0.0:0.5379:0.0	.	1717;299	Q9C0C2;Q86TK2	TB182_HUMAN;.	K	1717	ENSP00000350990:N1717K;ENSP00000437271:N1717K	ENSP00000350990:N1717K	N	-	3	2	TNKS1BP1	56824629	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	1.753000	0.38359	0.176000	0.19873	-0.291000	0.09656	AAC		0.527	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		20	69	0	0	0	1	0	20	69				
ERMARD	55780	broad.mit.edu	37	6	170156486	170156486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:170156486C>G	ENST00000366773.3	+	4	401	c.368C>G	c.(367-369)tCt>tGt	p.S123C	ERMARD_ENST00000588451.1_5'UTR|ERMARD_ENST00000418781.3_Missense_Mutation_p.S123C|ERMARD_ENST00000366772.2_Missense_Mutation_p.S123C|ERMARD_ENST00000392095.4_5'UTR	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	123					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CCTGCTATTTCTCTTAGCTTA	0.348																																						ENST00000366773.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(367-369)tCt>tGt									114.0	110.0	112.0					6																	170156486		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170156486C>G	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.368C>G	6.37:g.170156486C>G	ENSP00000355735:p.Ser123Cys					C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000366772.2_Missense_Mutation_p.S123C|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000418781.3_Missense_Mutation_p.S123C	p.S123C	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	4	401	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	123					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.368C>G	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	8.635	0.894489	0.17613	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.49139	0.79	5.75	2.87	0.33458	.	0.813623	0.11172	N	0.591855	T	0.20495	0.0493	L	0.29908	0.895	0.20196	N	0.99993	B;B	0.17667	0.023;0.013	B;B	0.16722	0.016;0.01	T	0.32955	-0.9887	10	0.42905	T	0.14	.	15.8658	0.79063	0.0:0.6153:0.3847:0.0	.	123;123	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	C	123	ENSP00000355735:S123C	ENSP00000355734:S123C	S	+	2	0	C6orf70	169898411	0.251000	0.23961	0.001000	0.08648	0.591000	0.36615	1.172000	0.31908	0.291000	0.22468	0.563000	0.77884	TCT		0.348	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		13	58	0	0	0	1	0	13	58				
HERC2	8924	broad.mit.edu	37	15	28493761	28493761	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:28493761G>C	ENST00000261609.7	-	21	3280	c.3172C>G	c.(3172-3174)Caa>Gaa	p.Q1058E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAAACGTTGAAAACGCAGT	0.383																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3172-3174)Caa>Gaa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							103.0	95.0	97.0					15																	28493761		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28493761G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3172C>G	15.37:g.28493761G>C	ENSP00000261609:p.Gln1058Glu						p.Q1058E	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	21	3280	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1058						Missense_Mutation	SNP	ENST00000261609.7	37	c.3172C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878325	0.33162	.	.	ENSG00000128731	ENST00000261609	T	0.68025	-0.3	5.08	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	M	0.72353	2.195	0.54753	D	0.999982	P	0.40332	0.713	P	0.51806	0.68	T	0.79080	-0.1950	10	0.87932	D	0	.	14.0464	0.64708	0.0736:0.0:0.9264:0.0	.	1058	O95714	HERC2_HUMAN	E	1058	ENSP00000261609:Q1058E	ENSP00000261609:Q1058E	Q	-	1	0	HERC2	26167356	1.000000	0.71417	0.991000	0.47740	0.238000	0.25445	7.586000	0.82596	1.278000	0.44430	-0.444000	0.05651	CAA		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	20	0	0	0	1	0	12	20				
MED29	55588	broad.mit.edu	37	19	39888208	39888208	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:39888208C>T	ENST00000599213.2	+	4	499	c.472C>T	c.(472-474)Cca>Tca	p.P158S	MED29_ENST00000315588.5_Missense_Mutation_p.P179S|MED29_ENST00000594368.1_Silent_p.T134T			Q9NX70	MED29_HUMAN	mediator complex subunit 29	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCCCCTACCCACAGTACCT	0.602											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(535-537)Cca>Tca		mediator complex subunit 29							106.0	74.0	85.0					19																	39888208		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39888208C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.472C>T	19.37:g.39888208C>T	ENSP00000471802:p.Pro158Ser		OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MED29_ENST00000599213.2_Missense_Mutation_p.P158S|MED29_ENST00000594368.1_Silent_p.T134T	p.P179S	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	584	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		158					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.535C>T		.	.	.	.	.	.	.	.	.	.	C	8.028	0.761124	0.15914	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.74	4.74	0.60224	.	0.248634	0.40469	N	0.001082	T	0.42223	0.1193	L	0.28192	0.835	0.36604	D	0.874855	B	0.10296	0.003	B	0.14578	0.011	T	0.44097	-0.9350	9	0.31617	T	0.26	-0.135	10.3273	0.43801	0.1963:0.8037:0.0:0.0	.	179	B4DUA7	.	S	179;97	.	ENSP00000314343:P179S	P	+	1	0	MED29	44580048	1.000000	0.71417	0.981000	0.43875	0.185000	0.23345	3.084000	0.50143	2.447000	0.82792	0.563000	0.77884	CCA		0.602	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		16	41	0	0	0	1	0	16	41				
RAD54B	25788	broad.mit.edu	37	8	95390474	95390474	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95390474C>T	ENST00000336148.5	-	14	2573	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	817					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTGAACTTTCATGTAATGTG	0.358								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2449-2451)Gaa>Aaa	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							65.0	60.0	62.0					8																	95390474		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95390474C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2449G>A	8.37:g.95390474C>T	ENSP00000336606:p.Glu817Lys						p.E817K	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		14	2573	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.2449G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251748	0.59212	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.75589	-0.95	5.82	5.82	0.92795	.	0.095577	0.64402	D	0.000001	T	0.70535	0.3235	L	0.48260	1.515	0.80722	D	1	D	0.53312	0.959	B	0.42112	0.376	T	0.67565	-0.5638	10	0.21540	T	0.41	-9.2334	20.0953	0.97838	0.0:1.0:0.0:0.0	.	817	Q9Y620	RA54B_HUMAN	K	817;489	ENSP00000336606:E817K	ENSP00000336606:E817K	E	-	1	0	RAD54B	95459650	1.000000	0.71417	0.987000	0.45799	0.314000	0.28054	4.381000	0.59587	2.767000	0.95098	0.655000	0.94253	GAA		0.358	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		4	10	0	0	0	1	0	4	10				
WDR19	57728	broad.mit.edu	37	4	39233871	39233871	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39233871C>A	ENST00000399820.3	+	19	2386	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S584R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	744					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTGCATCCAGCTGTCCTATTG	0.463																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(2230-2232)agC>agA		WD repeat domain 19							170.0	157.0	161.0					4																	39233871		1885	4121	6006	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39233871C>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2232C>A	4.37:g.39233871C>A	ENSP00000382717:p.Ser744Arg					WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S584R	p.S744R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			19	2386	+			744					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2232C>A	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542295	0.27563	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.86230	-2.09;-2.09	5.05	4.19	0.49359	.	0.318968	0.39475	N	0.001355	D	0.92090	0.7493	M	0.90542	3.125	0.40649	D	0.982015	P	0.47191	0.891	P	0.57371	0.819	D	0.90860	0.4738	10	0.27785	T	0.31	-12.2545	9.6536	0.39912	0.0:0.7802:0.0:0.2198	.	744	Q8NEZ3	WDR19_HUMAN	R	744;584	ENSP00000382717:S744R;ENSP00000288634:S584R	ENSP00000288634:S584R	S	+	3	2	WDR19	38910266	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.138000	0.31491	2.339000	0.79563	0.484000	0.47621	AGC		0.463	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			24	151	1	0	4.87955e-14	1	5.14942e-14	24	151				
ZNF565	147929	broad.mit.edu	37	19	36673814	36673814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673814G>A	ENST00000355114.5	-	5	1900	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.R352*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.R352*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTTGATGTCGAGTAACTTCT	0.493																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1174-1176)Cga>Tga		zinc finger protein 565							98.0	87.0	91.0					19																	36673814		2203	4300	6503	SO:0001587	stop_gained	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673814G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1174C>T	19.37:g.36673814G>A	ENSP00000347234:p.Arg392*					ZNF565_ENST00000304116.5_Nonsense_Mutation_p.R352*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.R352*	p.R392*			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1900	-	Esophageal squamous(110;0.162)		352					B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	37	c.1174C>T		.	.	.	.	.	.	.	.	.	.	g	11.80	1.746306	0.30955	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.7	2.45	0.29901	.	0.000000	0.30134	N	0.010333	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	11.5043	0.50456	0.0:0.0:0.6744:0.3256	.	.	.	.	X	352;352;392	.	ENSP00000306869:R352X	R	-	1	2	ZNF565	41365654	0.000000	0.05858	0.741000	0.31004	0.015000	0.08874	-0.990000	0.03732	0.649000	0.30751	-0.188000	0.12872	CGA		0.493	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		17	67	0	0	0	1	0	17	67				
TTC26	79989	broad.mit.edu	37	7	138874099	138874099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:138874099G>C	ENST00000464848.1	+	18	1666	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	TTC26_ENST00000478836.2_Missense_Mutation_p.R422T|TTC26_ENST00000495038.1_Missense_Mutation_p.R398T|TTC26_ENST00000343187.4_Missense_Mutation_p.R498T|TTC26_ENST00000430935.1_Missense_Mutation_p.E484D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	529					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CATTTACTGAGAAGCACAGGT	0.383																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(1585-1587)aGa>aCa		tetratricopeptide repeat domain 26							158.0	158.0	158.0					7																	138874099		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138874099G>C	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1586G>C	7.37:g.138874099G>C	ENSP00000419279:p.Arg529Thr					TTC26_ENST00000495038.1_Missense_Mutation_p.R398T|TTC26_ENST00000343187.4_Missense_Mutation_p.R498T|TTC26_ENST00000430935.1_Missense_Mutation_p.E484D|TTC26_ENST00000478836.2_Missense_Mutation_p.R422T	p.R529T			A0AVF1	TTC26_HUMAN			18	1666	+			529					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1586G>C	CCDS5852.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219186|3.219186	0.58560|0.58560	.|.	.|.	ENSG00000105948|ENSG00000105948	ENST00000430935|ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T|T;T;T;T	0.44083|0.46819	0.93|0.86;0.87;0.87;0.88	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.049384	.|0.85682	.|D	.|0.000000	T|T	0.50086|0.50086	0.1595|0.1595	.|.	.|.	.|.	0.24112|0.24112	N|N	0.995835|0.995835	B|B;P;P	0.19817|0.40731	0.039|0.291;0.728;0.608	B|B;P;B	0.21917|0.44359	0.037|0.097;0.447;0.261	T|T	0.48340|0.48340	-0.9044|-0.9044	8|9	0.87932|0.44086	D|T	0|0.13	.|.	18.0152|18.0152	0.89238|0.89238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	484|398;498;529	C9J2N7|B7Z2T3;F8W724;A0AVF1	.|.;.;TTC26_HUMAN	D|T	484|398;422;529;498	ENSP00000410655:E484D|ENSP00000418788:R398T;ENSP00000419178:R422T;ENSP00000419279:R529T;ENSP00000339135:R498T	ENSP00000410655:E484D|ENSP00000339135:R498T	E|R	+|+	3|2	2|0	TTC26|TTC26	138524639|138524639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.189000|5.189000	0.65098|0.65098	2.527000|2.527000	0.85204|0.85204	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		20	148	0	0	0	1	0	20	148				
WBP1	23559	broad.mit.edu	37	2	74687791	74687791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74687791G>A	ENST00000233615.2	+	4	1067	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Missense_Mutation_p.E262K|WBP1_ENST00000393972.3_Missense_Mutation_p.E299K|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	265							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTCTTCCAGTGAAGGGGACAT	0.567																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(895-897)Gaa>Aaa		WW domain binding protein 1							35.0	32.0	33.0					2																	74687791		2203	4299	6502	SO:0001583	missense	23559						WW domain binding	g.chr2:74687791G>A	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.793G>A	2.37:g.74687791G>A	ENSP00000233615:p.Glu265Lys					WBP1_ENST00000409737.1_Missense_Mutation_p.E262K|WBP1_ENST00000233615.2_Missense_Mutation_p.E265K|WBP1_ENST00000494741.1_3'UTR	p.E299K			Q96G27	WBP1_HUMAN			5	1098	+			265					B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	c.895G>A	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	G	6.741	0.505426	0.12822	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737	.	.	.	4.59	0.581	0.17407	.	.	.	.	.	T	0.30039	0.0752	L	0.47716	1.5	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.22386	0.039;0.039	T	0.30679	-0.9970	8	0.41790	T	0.15	4.8303	1.4543	0.02382	0.192:0.1613:0.4679:0.1788	.	262;265	B8ZZ95;Q96G27	.;WBP1_HUMAN	K	265;299;262	.	ENSP00000233615:E265K	E	+	1	0	WBP1	74541299	0.018000	0.18449	0.044000	0.18714	0.023000	0.10783	0.475000	0.22164	-0.007000	0.14345	-0.251000	0.11542	GAA		0.567	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		4	32	0	0	0	1	0	4	32				
EIF4H	7458	broad.mit.edu	37	7	73609192	73609192	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73609192C>T	ENST00000265753.8	+	6	730	c.591C>T	c.(589-591)ttC>ttT	p.F197F	EIF4H_ENST00000353999.6_Silent_p.F177F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	197					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						ACATGGATTTCAGAGAACCCA	0.632																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(589-591)ttC>ttT		eukaryotic translation initiation factor 4H							37.0	39.0	39.0					7																	73609192		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609192C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.591C>T	7.37:g.73609192C>T						EIF4H_ENST00000353999.6_Silent_p.F177F	p.F197F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			6	730	+			197					A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.591C>T	CCDS5564.1																																																																																				0.632	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		14	41	0	0	0	1	0	14	41				
ZNF763	284390	broad.mit.edu	37	19	12089148	12089148	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12089148C>G	ENST00000358987.3	+	4	536	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ZNF763_ENST00000590798.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000343949.5_Missense_Mutation_p.Q140E|ZNF763_ENST00000545530.1_Missense_Mutation_p.Q15E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q157E			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATACGAGTATCAGGACTATGC	0.403																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(418-420)Cag>Gag		zinc finger protein 763							165.0	166.0	166.0					19																	12089148		2203	4300	6503	SO:0001583	missense	284390							g.chr19:12089148C>G	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.409C>G	19.37:g.12089148C>G	ENSP00000402017:p.Gln137Glu					ZNF763_ENST00000590798.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000545530.1_Missense_Mutation_p.Q15E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q137E|ZNF763_ENST00000592625.1_3'UTR	p.Q140E	NM_001012753.1	NP_001012771.1					4	573	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.418C>G		.	.	.	.	.	.	.	.	.	.	c	12.10	1.835856	0.32421	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.05855	3.46;3.45;3.38;3.45	0.587	0.587	0.17439	.	.	.	.	.	T	0.14743	0.0356	L	0.54323	1.7	0.19300	N	0.999979	P;P;P	0.49447	0.811;0.924;0.593	P;P;B	0.62298	0.83;0.9;0.388	T	0.11299	-1.0593	9	0.51188	T	0.08	.	6.9771	0.24681	0.0:0.9999:0.0:1.0E-4	.	157;137;140	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	E	157;140;15;137	ENSP00000438117:Q157E;ENSP00000369774:Q140E;ENSP00000446166:Q15E;ENSP00000402017:Q137E	ENSP00000369774:Q140E	Q	+	1	0	ZNF763	11950148	0.003000	0.15002	0.009000	0.14445	0.062000	0.15995	0.302000	0.19192	0.572000	0.29383	0.187000	0.17357	CAG		0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		48	172	0	0	0	1	0	48	172				
EIF2AK2	5610	broad.mit.edu	37	2	37368770	37368770	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:37368770G>C	ENST00000233057.4	-	5	637	c.315C>G	c.(313-315)atC>atG	p.I105M	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.I105M|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.I105M	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	105	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CAATTCTATTGATAAGGCCTA	0.373																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(313-315)atC>atG		eukaryotic translation initiation factor 2-alpha kinase 2							115.0	110.0	112.0					2																	37368770		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37368770G>C	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.315C>G	2.37:g.37368770G>C	ENSP00000233057:p.Ile105Met					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.I105M|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.I105M	p.I105M	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			5	637	-		all_hematologic(82;0.248)	105			DRBM 2.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.315C>G	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	8.338	0.828009	0.16749	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537	T;T;T	0.78707	-1.2;-1.2;-1.2	4.7	-2.18	0.07037	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	1.983120	0.02343	N	0.075103	T	0.67392	0.2888	L	0.28115	0.83	0.09310	N	1	B;B;B;B	0.30146	0.139;0.27;0.27;0.083	B;B;B;B	0.36335	0.117;0.074;0.074;0.222	T	0.56007	-0.8050	10	0.49607	T	0.09	-0.0015	4.5072	0.11894	0.3879:0.3068:0.3054:0.0	.	105;105;105;105	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	M	105	ENSP00000233057:I105M;ENSP00000378559:I105M;ENSP00000385014:I105M	ENSP00000233057:I105M	I	-	3	3	EIF2AK2	37222274	0.228000	0.23718	0.009000	0.14445	0.001000	0.01503	-0.211000	0.09332	-0.356000	0.08187	-1.078000	0.02229	ATC		0.373	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		7	93	0	0	0	1	0	7	93				
TAF5L	27097	broad.mit.edu	37	1	229750160	229750160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:229750160C>G	ENST00000366676.1	-	1	69	c.70G>C	c.(70-72)Gac>Cac	p.D24H	TAF5L_ENST00000366674.1_Missense_Mutation_p.D24H|TAF5L_ENST00000366675.3_Missense_Mutation_p.D24H|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.D24H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					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)				CCATCTGAGTCCACGTACTGC	0.567																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(70-72)Gac>Cac		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							114.0	98.0	104.0					1																	229750160		2203	4300	6503	SO:0001583	missense	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.chr1:229750160C>G	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.70G>C	1.37:g.229750160C>G	ENSP00000355636:p.Asp24His					TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.D24H|TAF5L_ENST00000366674.1_Missense_Mutation_p.D24H|TAF5L_ENST00000366676.1_Missense_Mutation_p.D24H	p.D24H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			2	158	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	24					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.70G>C	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941977	0.92526	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.60920	0.15;0.15;0.71	5.77	5.77	0.91146	.	0.043759	0.85682	D	0.000000	T	0.74215	0.3687	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.68943	0.961;0.58	T	0.71454	-0.4588	9	.	.	.	-20.4111	20.0015	0.97412	0.0:1.0:0.0:0.0	.	24;24	O75529-2;O75529	.;TAF5L_HUMAN	H	24	ENSP00000355636:D24H;ENSP00000258281:D24H;ENSP00000355635:D24H	.	D	-	1	0	TAF5L	227816783	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.452000	0.80683	2.732000	0.93576	0.563000	0.77884	GAC		0.567	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		15	69	0	0	0	1	0	15	69				
PKHD1L1	93035	broad.mit.edu	37	8	110457229	110457229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:110457229G>C	ENST00000378402.5	+	38	5235	c.5131G>C	c.(5131-5133)Gaa>Caa	p.E1711Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1711	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACGGCCATTGAATGTGAAAC	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5131-5133)Gaa>Caa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							200.0	193.0	195.0					8																	110457229		1911	4122	6033	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457229G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5131G>C	8.37:g.110457229G>C	ENSP00000367655:p.Glu1711Gln	HNSCC(38;0.096)					p.E1711Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5235	+			1711			IPT/TIG 9.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5131G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791314	0.31685	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.304822	0.32372	N	0.006187	T	0.73690	0.3619	L	0.49640	1.575	0.22034	N	0.999405	P	0.36647	0.563	B	0.42062	0.374	T	0.64045	-0.6499	10	0.17369	T	0.5	.	11.6036	0.51017	0.0797:0.0:0.9203:0.0	.	1711	Q86WI1	PKHL1_HUMAN	Q	1711	ENSP00000367655:E1711Q	ENSP00000367655:E1711Q	E	+	1	0	PKHD1L1	110526405	0.863000	0.29885	0.997000	0.53966	0.239000	0.25481	1.471000	0.35365	2.941000	0.99782	0.655000	0.94253	GAA		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		40	173	0	0	0	1	0	40	173				
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131498C>G	ENST00000432109.2	+	3	478	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E	CASP8_ENST00000264275.5_Missense_Mutation_p.Q97E|CASP8_ENST00000264274.9_Missense_Mutation_p.Q97E|CASP8_ENST00000358485.4_Missense_Mutation_p.Q156E|CASP8_ENST00000323492.7_Missense_Mutation_p.Q97E|CASP8_ENST00000392258.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392259.2_Missense_Mutation_p.Q97E|CASP8_ENST00000392266.3_Missense_Mutation_p.Q97E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(466-468)Caa>Gaa		caspase 8, apoptosis-related cysteine peptidase							43.0	41.0	42.0					2																	202131498		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131498C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.289C>G	2.37:g.202131498C>G	ENSP00000412523:p.Gln97Glu	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.Q97E|CASP8_ENST00000264274.9_Missense_Mutation_p.Q97E|CASP8_ENST00000264275.5_Missense_Mutation_p.Q97E|CASP8_ENST00000432109.2_Missense_Mutation_p.Q97E|CASP8_ENST00000392266.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392258.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392259.2_Missense_Mutation_p.Q97E	p.Q156E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	662	+			97			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.466C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179866	0.57800	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.58	5.58	0.84498	DEATH-like (2);	1.143620	0.06237	N	0.689670	D	0.89118	0.6624	M	0.79805	2.47	0.31746	N	0.635193	P;P;D;P;P;B;B;P;D	0.57899	0.898;0.893;0.968;0.893;0.856;0.227;0.356;0.765;0.981	P;B;P;B;P;B;B;P;P	0.54026	0.525;0.328;0.703;0.4;0.501;0.138;0.185;0.528;0.74	T	0.80214	-0.1475	10	0.02654	T	1	.	18.5483	0.91055	0.0:1.0:0.0:0.0	.	97;97;97;97;156;97;97;97;97	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	E	97;97;97;97;97;97;97;97;97;156;97;97;97;97	ENSP00000376091:Q97E;ENSP00000264274:Q97E;ENSP00000376088:Q97E;ENSP00000376094:Q97E;ENSP00000412523:Q97E;ENSP00000264275:Q97E;ENSP00000396869:Q97E;ENSP00000376087:Q97E;ENSP00000388306:Q97E;ENSP00000351273:Q156E;ENSP00000397528:Q97E;ENSP00000325722:Q97E;ENSP00000390641:Q97E	ENSP00000264274:Q97E	Q	+	1	0	CASP8	201839743	0.909000	0.30893	0.998000	0.56505	0.231000	0.25187	0.895000	0.28363	2.612000	0.88384	0.561000	0.74099	CAA		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		7	29	0	0	0	1	0	7	29				
SMPD3	55512	broad.mit.edu	37	16	68404995	68404995	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:68404995C>G	ENST00000219334.5	-	3	1693	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	SMPD3_ENST00000563226.1_Missense_Mutation_p.E364Q|SMPD3_ENST00000568373.1_Missense_Mutation_p.E364Q|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	364					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCAAACACCTCCTGCAGGCAC	0.622																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1090-1092)Gag>Cag		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						64.0	56.0	59.0					16																	68404995		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68404995C>G	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1090G>C	16.37:g.68404995C>G	ENSP00000219334:p.Glu364Gln					SMPD3_ENST00000563226.1_Missense_Mutation_p.E364Q|SMPD3_ENST00000568373.1_Missense_Mutation_p.E364Q	p.E364Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1693	-		Ovarian(137;0.0563)	364					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1090G>C	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648839	0.87958	.	.	ENSG00000103056	ENST00000219334	D	0.98717	-5.09	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	D	0.99827	1.1051	10	0.72032	D	0.01	-30.4046	16.3108	0.82869	0.0:1.0:0.0:0.0	.	364;364;364	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	Q	364	ENSP00000219334:E364Q	ENSP00000219334:E364Q	E	-	1	0	SMPD3	66962496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.447000	0.82792	0.563000	0.77884	GAG		0.622	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		13	60	0	0	0	1	0	13	60				
CYFIP2	26999	broad.mit.edu	37	5	156753273	156753273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156753273G>A	ENST00000521420.1	+	17	2090	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	CYFIP2_ENST00000347377.6_Missense_Mutation_p.E693K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E693K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E718K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E497K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E618K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E392K|CYFIP2_ENST00000520960.1_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATAGAAGCTGAGGCAAGTGA	0.433																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2077-2079)Gag>Aag		cytoplasmic FMR1 interacting protein 2							149.0	147.0	148.0					5																	156753273		1959	4140	6099	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156753273G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1999G>A	5.37:g.156753273G>A	ENSP00000430904:p.Glu667Lys					CYFIP2_ENST00000521420.1_Missense_Mutation_p.E667K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E497K|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E618K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E693K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E392K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E718K|CYFIP2_ENST00000442283.2_5'UTR	p.E693K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	2508	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	718						Missense_Mutation	SNP	ENST00000521420.1	37	c.2077G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.722495	0.89298	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.96	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;1.0;1.0;0.646	D;D;D;D;D;P	0.83275	0.967;0.991;0.989;0.976;0.996;0.893	D	0.83745	0.0206	10	0.87932	D	0	-25.153	14.9816	0.71316	0.0:0.0:0.8561:0.1439	.	557;497;667;693;693;718	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	K	718;497;667;693;693;618;392	ENSP00000325817:E718K;ENSP00000428009:E497K;ENSP00000430904:E667K;ENSP00000313567:E693K;ENSP00000366799:E693K;ENSP00000444645:E618K;ENSP00000403793:E392K	ENSP00000325817:E718K	E	+	1	0	CYFIP2	156685851	1.000000	0.71417	0.898000	0.35279	0.723000	0.41478	9.759000	0.98931	1.202000	0.43218	0.655000	0.94253	GAG		0.433	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		19	92	0	0	0	1	0	19	92				
DOCK8	81704	broad.mit.edu	37	9	396931	396931	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:396931G>A	ENST00000453981.1	+	25	3229	c.3117G>A	c.(3115-3117)caG>caA	p.Q1039Q	DOCK8_ENST00000432829.2_Silent_p.Q971Q|DOCK8_ENST00000469391.1_Silent_p.Q939Q|DOCK8_ENST00000382329.1_Silent_p.Q506Q|DOCK8_ENST00000382331.1_Silent_p.Q341Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1039					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAAACCACAGAAGGTAACtg	0.318																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2911-2913)caG>caA		dedicator of cytokinesis 8							94.0	93.0	93.0					9																	396931		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396931G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3117G>A	9.37:g.396931G>A						DOCK8_ENST00000453981.1_Silent_p.Q1039Q|DOCK8_ENST00000469391.1_Silent_p.Q939Q|DOCK8_ENST00000382331.1_Silent_p.Q341Q|DOCK8_ENST00000382329.1_Silent_p.Q506Q	p.Q971Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3229	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1039					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.2913G>A	CCDS6440.2																																																																																				0.318	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		15	47	0	0	0	1	0	15	47				
ERO1L	30001	broad.mit.edu	37	14	53138357	53138357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:53138357C>T	ENST00000395686.3	-	6	722	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	167					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CCATCAGCTTCACAGAAGTTA	0.294																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(499-501)Gaa>Aaa		ERO1-like (S. cerevisiae)							39.0	40.0	39.0					14																	53138357		2203	4299	6502	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53138357C>T	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.499G>A	14.37:g.53138357C>T	ENSP00000379042:p.Glu167Lys						p.E167K	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			6	722	-	Breast(41;0.226)		167					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.499G>A	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670485	0.88348	.	.	ENSG00000197930	ENST00000395686;ENST00000554251	D;D	0.94138	-3.36;-3.36	4.74	4.74	0.60224	.	0.171155	0.51477	D	0.000083	D	0.95726	0.8610	M	0.82923	2.615	0.53688	D	0.999978	D	0.63046	0.992	P	0.57468	0.821	D	0.94452	0.7668	10	0.19590	T	0.45	-17.2008	17.6771	0.88233	0.0:1.0:0.0:0.0	.	167	Q96HE7	ERO1A_HUMAN	K	167;127	ENSP00000379042:E167K;ENSP00000452269:E127K	ENSP00000379042:E167K	E	-	1	0	ERO1L	52208107	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.485000	0.81204	2.363000	0.80096	0.591000	0.81541	GAA		0.294	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		5	21	0	0	0	1	0	5	21				
SMC3	9126	broad.mit.edu	37	10	112359528	112359528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:112359528G>C	ENST00000361804.4	+	21	2511	c.2385G>C	c.(2383-2385)aaG>aaC	p.K795N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	795					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGATCAGAAGAGAGTAGATG	0.423																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2383-2385)aaG>aaC		structural maintenance of chromosomes 3							115.0	108.0	110.0					10																	112359528		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112359528G>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2385G>C	10.37:g.112359528G>C	ENSP00000354720:p.Lys795Asn						p.K795N	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	21	2511	+		Breast(234;0.0848)|Lung NSC(174;0.238)	795					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2385G>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.936009	0.18206	.	.	ENSG00000108055	ENST00000361804	T	0.78003	-1.14	5.56	1.98	0.26296	RecF/RecN/SMC (1);	0.090543	0.64402	D	0.000001	T	0.56630	0.1998	N	0.13168	0.305	0.41228	D	0.986557	B	0.28470	0.213	B	0.26202	0.067	T	0.44513	-0.9323	10	0.21540	T	0.41	.	8.8876	0.35414	0.4747:0.0:0.5253:0.0	.	795	Q9UQE7	SMC3_HUMAN	N	795	ENSP00000354720:K795N	ENSP00000354720:K795N	K	+	3	2	SMC3	112349518	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.352000	0.34033	0.590000	0.29694	0.305000	0.20034	AAG		0.423	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		12	54	0	0	0	1	0	12	54				
AHCTF1	25909	broad.mit.edu	37	1	247012940	247012940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:247012940G>A	ENST00000391829.2	-	33	6491	c.6368C>T	c.(6367-6369)tCa>tTa	p.S2123L	AHCTF1_ENST00000366508.1_Missense_Mutation_p.S2158L|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2132L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2123	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAACTTCTGACGCTGGAGA	0.413																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6472-6474)tCa>tTa		AT hook containing transcription factor 1							85.0	84.0	85.0					1																	247012940		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247012940G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6368C>T	1.37:g.247012940G>A	ENSP00000375705:p.Ser2123Leu					AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2132L|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S2123L|AHCTF1_ENST00000470300.1_5'UTR	p.S2158L			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6609	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2123			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6473C>T		.	.	.	.	.	.	.	.	.	.	G	15.27	2.782891	0.49891	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33216	1.42;1.42;1.42	5.99	5.07	0.68467	.	0.510721	0.18184	N	0.149026	T	0.32734	0.0839	M	0.62723	1.935	0.09310	N	0.999999	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.24012	-1.0172	10	0.54805	T	0.06	-2.3193	11.7522	0.51855	0.0814:0.0:0.9186:0.0	.	2158;2123	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	L	2158;2132;2123	ENSP00000355464:S2158L;ENSP00000355465:S2132L;ENSP00000375705:S2123L	ENSP00000355465:S2132L	S	-	2	0	AHCTF1	245079563	0.995000	0.38212	0.012000	0.15200	0.154000	0.21943	2.570000	0.45981	1.511000	0.48818	0.655000	0.94253	TCA		0.413	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		23	80	0	0	0	1	0	23	80				
PPP1R15A	23645	broad.mit.edu	37	19	49379229	49379229	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49379229G>A	ENST00000200453.5	+	3	2293	c.2024G>A	c.(2023-2025)tGa>tAa	p.*675*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	0					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.*675S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGGCGTGGCTGAGACCAACTG	0.507																																						ENST00000200453.5																			1	Nonstop extension(1)	p.*675S(1)	breast(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(2023-2025)tGa>tAa		protein phosphatase 1, regulatory subunit 15A							45.0	48.0	47.0					19																	49379229		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379229G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.2024G>A	19.37:g.49379229G>A							p.*675*	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2293	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	0					B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.2024G>A	CCDS12738.1																																																																																				0.507	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		29	128	0	0	0	1	0	29	128				
KIAA0368	23392	broad.mit.edu	37	9	114134106	114134106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114134106G>A	ENST00000338205.5	-	42	4751	c.4532C>T	c.(4531-4533)tCc>tTc	p.S1511F	KIAA0368_ENST00000259335.4_Missense_Mutation_p.S1689F|KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1517					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCACCAAAGGATCCTAGGAA	0.378																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5065-5067)tCc>tTc		KIAA0368							58.0	56.0	57.0					9																	114134106		1821	4074	5895	SO:0001583	missense	23392							g.chr9:114134106G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4532C>T	9.37:g.114134106G>A	ENSP00000339889:p.Ser1511Phe					KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1511F|KIAA0368_ENST00000374378.3_5'UTR	p.S1689F	NM_001080398.1	NP_001073867.1					44	5065	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.5066C>T		.	.	.	.	.	.	.	.	.	.	G	15.35	2.808053	0.50421	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.51325	0.71	5.73	4.84	0.62591	.	0.177217	0.47093	D	0.000242	T	0.39306	0.1073	L	0.41824	1.3	0.80722	D	1	B	0.20164	0.042	B	0.19946	0.027	T	0.25572	-1.0128	10	0.52906	T	0.07	.	10.8414	0.46718	0.1437:0.0:0.8563:0.0	.	986	B3KXF2	.	F	1511;1689;986	ENSP00000259335:S1689F	ENSP00000259335:S1689F	S	-	2	0	KIAA0368	113173927	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.705000	0.61838	1.420000	0.47138	0.655000	0.94253	TCC		0.378	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		10	57	0	0	0	1	0	10	57				
NRG3	10718	broad.mit.edu	37	10	84711271	84711271	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:84711271C>T	ENST00000404547.1	+	5	1101	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	NRG3_ENST00000372142.2_Silent_p.I146I|NRG3_ENST00000372141.2_Silent_p.I367I|NRG3_ENST00000556918.1_Silent_p.I197I|NRG3_ENST00000404576.2_Silent_p.I171I|NRG3_ENST00000545131.1_Silent_p.I17I|NRG3_ENST00000537893.1_Silent_p.I17I			P56975	NRG3_HUMAN	neuregulin 3	367					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTCATGTATCATCTTTGGAA	0.378																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(436-438)atC>atT		neuregulin 3							247.0	226.0	233.0					10																	84711271		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84711271C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1101C>T	10.37:g.84711271C>T						NRG3_ENST00000537893.1_Silent_p.I17I|NRG3_ENST00000404547.1_Silent_p.I367I|NRG3_ENST00000404576.2_Silent_p.I171I|NRG3_ENST00000545131.1_Silent_p.I17I|NRG3_ENST00000372141.2_Silent_p.I367I|NRG3_ENST00000556918.1_Silent_p.I197I	p.I146I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	6	712	+			367			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.438C>T	CCDS31233.1																																																																																				0.378	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		15	84	0	0	0	1	0	15	84				
CLCN6	1185	broad.mit.edu	37	1	11898422	11898422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:11898422G>A	ENST00000346436.6	+	21	2378	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E776K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E754K|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	776					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTATGCCGAGATGGCCGA	0.662											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2326-2328)Gag>Aag		chloride channel, voltage-sensitive 6							66.0	65.0	65.0					1																	11898422		2202	4300	6502	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898422G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2326G>A	1.37:g.11898422G>A	ENSP00000234488:p.Glu776Lys		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E776K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E754K	p.E776K	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2378	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	776					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2326G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282663	0.59867	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91631	-2.88;-2.87;-2.87	5.57	5.57	0.84162	.	0.045633	0.85682	D	0.000000	D	0.87569	0.6210	L	0.38838	1.175	0.80722	D	1	B;B	0.23891	0.093;0.056	B;B	0.18263	0.021;0.009	D	0.83445	0.0045	10	0.11182	T	0.66	-31.4057	18.5351	0.91008	0.0:0.0:1.0:0.0	.	754;776	F8W9R3;P51797	.;CLCN6_HUMAN	K	776;754;776	ENSP00000234488:E776K;ENSP00000365670:E754K;ENSP00000365679:E776K	ENSP00000234488:E776K	E	+	1	0	CLCN6	11821009	1.000000	0.71417	0.969000	0.41365	0.951000	0.60555	7.478000	0.81082	2.619000	0.88677	0.561000	0.74099	GAG		0.662	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		16	59	0	0	0	1	0	16	59				
WWP1	11059	broad.mit.edu	37	8	87464814	87464814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:87464814G>A	ENST00000517970.1	+	21	2607	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	WWP1_ENST00000341922.2_Missense_Mutation_p.R637Q|WWP1_ENST00000265428.4_Missense_Mutation_p.R767Q|WWP1_ENST00000349423.2_Missense_Mutation_p.R549Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	767	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CGTTTTTCTCGAGGAGTACAA	0.328																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2299-2301)cGa>cAa		WW domain containing E3 ubiquitin protein ligase 1							104.0	100.0	102.0					8																	87464814		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87464814G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2300G>A	8.37:g.87464814G>A	ENSP00000427793:p.Arg767Gln					WWP1_ENST00000349423.2_Missense_Mutation_p.R549Q|WWP1_ENST00000341922.2_Missense_Mutation_p.R637Q|WWP1_ENST00000265428.4_Missense_Mutation_p.R767Q	p.R767Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			21	2607	+			767			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2300G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719537	0.96839	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.24	5.24	0.73138	HECT (4);	0.068056	0.64402	D	0.000010	T	0.74015	0.3661	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76642	-0.2884	10	0.72032	D	0.01	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	767	Q9H0M0	WWP1_HUMAN	Q	767;767;637;549	ENSP00000427793:R767Q;ENSP00000265428:R767Q;ENSP00000340564:R637Q;ENSP00000342665:R549Q	ENSP00000265428:R767Q	R	+	2	0	WWP1	87533930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.613000	0.88420	0.650000	0.86243	CGA		0.328	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		7	55	0	0	0	1	0	7	55				
SH3TC2	79628	broad.mit.edu	37	5	148388505	148388505	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:148388505G>A	ENST00000515425.1	-	15	3488	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	SH3TC2_ENST00000538184.1_Silent_p.F676F|SH3TC2_ENST00000502274.1_5'Flank|SH3TC2_ENST00000512049.1_Silent_p.F1122F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1129					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCTTATTGAAAATCCGGA	0.527																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(2026-2028)ttC>ttT		SH3 domain and tetratricopeptide repeats 2							134.0	133.0	133.0					5																	148388505		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148388505G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3387C>T	5.37:g.148388505G>A						SH3TC2_ENST00000512049.1_Silent_p.F1122F|SH3TC2_ENST00000515425.1_Silent_p.F1129F	p.F676F			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	2916	-			1129					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.2028C>T	CCDS4293.1																																																																																				0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		32	127	0	0	0	1	0	32	127				
RNF213	57674	broad.mit.edu	37	17	78286925	78286925	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:78286925C>T	ENST00000582970.1	+	15	2912	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	RNF213_ENST00000456466.1_Silent_p.L923L|CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000508628.2_Silent_p.L972L|RNF213_ENST00000319921.4_Silent_p.L923L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	923					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAACATGCTCACATCTTCAG	0.463																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2767-2769)ctC>ctT		ring finger protein 213							130.0	126.0	127.0					17																	78286925		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78286925C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2769C>T	17.37:g.78286925C>T						RNF213_ENST00000508628.2_Silent_p.L972L|RNF213_ENST00000319921.4_Silent_p.L923L|RNF213_ENST00000456466.1_Silent_p.L923L	p.L923L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		15	2912	+	all_neural(118;0.0538)		923					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.2769C>T	CCDS58606.1																																																																																				0.463	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	99	0	0	0	1	0	21	99				
NBPF10	100132406	broad.mit.edu	37	1	145296379	145296379	+	Missense_Mutation	SNP	T	T	G	rs587724347	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:145296379T>G	ENST00000342960.5	+	3	336	c.301T>G	c.(301-303)Tct>Gct	p.S101A	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	101						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTAGTTCACTCTCAGGAACG	0.483													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		38307	0.0		0.0	False		,,,				2504	0.0					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(301-303)Tct>Gct		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296379T>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.301T>G	1.37:g.145296379T>G	ENSP00000345684:p.Ser101Ala					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.S101A	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	336	+	all_hematologic(923;0.032)		101					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.301T>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028614	0.07589	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02498	4.27	0.837	-1.67	0.08238	.	.	.	.	.	T	0.00784	0.0026	L	0.41710	1.295	0.09310	N	1	.	.	.	.	.	.	T	0.46303	-0.9201	7	0.26408	T	0.33	.	1.6562	0.02782	0.2714:0.0:0.396:0.3326	.	.	.	.	A	101;26;101	ENSP00000345684:S101A	ENSP00000345684:S101A	S	+	1	0	NBPF10	144007736	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.667000	0.01961	-0.712000	0.04988	0.102000	0.15555	TCT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	291	0	0	0	1	0	8	291				
MAG	4099	broad.mit.edu	37	19	35786323	35786323	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35786323C>G	ENST00000392213.3	+	3	171	c.12C>G	c.(10-12)ctC>ctG	p.L4L	MAG_ENST00000361922.4_Silent_p.L4L|MAG_ENST00000597035.1_Silent_p.L4L|MAG_ENST00000537831.2_Intron	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	4					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGATATTCCTCACGGCACTGC	0.552																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(10-12)ctC>ctG		myelin associated glycoprotein							249.0	246.0	247.0					19																	35786323		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786323C>G	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.12C>G	19.37:g.35786323C>G						MAG_ENST00000597035.1_Silent_p.L4L|MAG_ENST00000537831.2_Intron|MAG_ENST00000392213.3_Silent_p.L4L	p.L4L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	162	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	4					B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.12C>G	CCDS12455.1																																																																																				0.552	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		68	395	0	0	0	1	0	68	395				
TDRD9	122402	broad.mit.edu	37	14	104481099	104481099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104481099C>T	ENST00000409874.4	+	21	2192	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Missense_Mutation_p.S715L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	715					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTAGAATCTCACAGTTCAAC	0.388																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2143-2145)tCa>tTa		tudor domain containing 9							146.0	144.0	145.0					14																	104481099		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104481099C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2144C>T	14.37:g.104481099C>T	ENSP00000387303:p.Ser715Leu					TDRD9_ENST00000339063.5_Missense_Mutation_p.S715L	p.S715L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			21	2192	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	715					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2144C>T	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274241	0.59649	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03635	3.86;3.88	5.09	3.11	0.35812	.	0.869940	0.09671	N	0.771110	T	0.05044	0.0135	L	0.43152	1.355	0.36170	D	0.848727	P;B	0.49253	0.921;0.262	P;B	0.44772	0.46;0.101	T	0.46428	-0.9192	10	0.62326	D	0.03	.	4.641	0.12548	0.2159:0.5214:0.1851:0.0776	.	715;715	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	L	715	ENSP00000387303:S715L;ENSP00000343545:S715L	ENSP00000343545:S715L	S	+	2	0	TDRD9	103550852	0.068000	0.21057	0.093000	0.20910	0.915000	0.54546	0.611000	0.24268	1.264000	0.44198	0.563000	0.77884	TCA		0.388	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		13	83	0	0	0	1	0	13	83				
ZNFX1	57169	broad.mit.edu	37	20	47874031	47874031	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:47874031T>A	ENST00000396105.1	-	8	2833	c.2587A>T	c.(2587-2589)Atg>Ttg	p.M863L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.M863L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.M863L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	863							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGAAGCATTTTAGCCAAC	0.562																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2587-2589)Atg>Ttg		zinc finger, NFX1-type containing 1							165.0	150.0	155.0					20																	47874031		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47874031T>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2587A>T	20.37:g.47874031T>A	ENSP00000379412:p.Met863Leu					ZNFX1_ENST00000371752.1_Missense_Mutation_p.M863L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.M863L	p.M863L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	2833	-			863					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2587A>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	8.751	0.921393	0.17982	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.85955	-1.76;-2.05;-2.05;-0.65;-1.38	5.87	-2.26	0.06867	.	0.691561	0.15442	N	0.262138	T	0.59676	0.2211	N	0.04880	-0.145	0.27636	N	0.947875	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.26408	T	0.33	-2.1339	0.6105	0.00760	0.215:0.1574:0.2689:0.3588	.	863	Q9P2E3	ZNFX1_HUMAN	L	863;863;863;863;863;667	ENSP00000360819:M863L;ENSP00000360817:M863L;ENSP00000379412:M863L;ENSP00000360809:M863L;ENSP00000413800:M667L	ENSP00000360809:M863L	M	-	1	0	ZNFX1	47307438	0.000000	0.05858	0.904000	0.35570	0.988000	0.76386	-0.753000	0.04792	-0.396000	0.07703	0.533000	0.62120	ATG		0.562	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		17	71	0	0	0	1	0	17	71				
IGF2R	3482	broad.mit.edu	37	6	160481615	160481615	+	Missense_Mutation	SNP	A	A	G	rs201671465		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160481615A>G	ENST00000356956.1	+	23	3276	c.3128A>G	c.(3127-3129)aAt>aGt	p.N1043S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1043					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTGTTTGCAATGATGATGTT	0.473																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3127-3129)aAt>aGt		insulin-like growth factor 2 receptor							179.0	167.0	171.0					6																	160481615		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160481615A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3128A>G	6.37:g.160481615A>G	ENSP00000349437:p.Asn1043Ser						p.N1043S	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	23	3276	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1043					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3128A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234698	0.58886	.	.	ENSG00000197081	ENST00000356956	T	0.02682	4.2	4.91	4.91	0.64330	Mannose-6-phosphate receptor, binding (1);	0.053016	0.85682	D	0.000000	T	0.08268	0.0206	M	0.83852	2.665	0.33691	D	0.61328	D	0.65815	0.995	P	0.61800	0.894	T	0.01848	-1.1261	10	0.62326	D	0.03	-6.9283	14.2223	0.65836	1.0:0.0:0.0:0.0	.	1043	P11717	MPRI_HUMAN	S	1043	ENSP00000349437:N1043S	ENSP00000349437:N1043S	N	+	2	0	IGF2R	160401605	1.000000	0.71417	0.058000	0.19502	0.270000	0.26580	7.338000	0.79269	1.827000	0.53221	0.482000	0.46254	AAT		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		18	86	0	0	0	1	0	18	86				
MACF1	23499	broad.mit.edu	37	1	39901263	39901263	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:39901263C>T	ENST00000372915.3	+	68	17593	c.17506C>T	c.(17506-17508)Cat>Tat	p.H5836Y	MACF1_ENST00000361689.2_Missense_Mutation_p.H3878Y|MACF1_ENST00000564288.1_Missense_Mutation_p.H5940Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4380Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H3878Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H3748Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H3878Y|MACF1_ENST00000567887.1_Missense_Mutation_p.H5977Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5836					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACAAACCTCATATTGACAA	0.328																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(17818-17820)Cat>Tat		microtubule-actin crosslinking factor 1							87.0	88.0	88.0					1																	39901263		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39901263C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17506C>T	1.37:g.39901263C>T	ENSP00000362006:p.His5836Tyr					MACF1_ENST00000567887.1_Missense_Mutation_p.H5977Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4380Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H3878Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H3878Y|MACF1_ENST00000372915.3_Missense_Mutation_p.H5836Y|MACF1_ENST00000361689.2_Missense_Mutation_p.H3878Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H3748Y	p.H5940Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		70	18595	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5937					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.17818C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.610236|4.610236	0.87258|0.87258	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.78162|0.78162	0.4240|0.4240	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	D;D;D|.	0.91635|.	0.995;0.999;0.998|.	T|T	0.76033|0.76033	-0.3107|-0.3107	10|5	0.66056|.	D|.	0.02|.	.|.	20.2787|20.2787	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	5836;3878;3822|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Y|L	3878;5836;3878;3878;3748;4380|2881	ENSP00000439537:H3878Y;ENSP00000362006:H5836Y;ENSP00000354573:H3878Y;ENSP00000313438:H3878Y;ENSP00000444364:H3748Y;ENSP00000289893:H4380Y|.	ENSP00000289893:H4380Y|.	H|S	+|+	1|2	0|0	MACF1|MACF1	39673850|39673850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	6.050000|6.050000	0.71063|0.71063	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.328	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	63	0	0	0	1	0	14	63				
PRKACG	5568	broad.mit.edu	37	9	71628433	71628433	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:71628433C>T	ENST00000377276.2	-	1	606	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCGGCCCTTCACGCGCTTGG	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(574-576)gtG>gtA		protein kinase, cAMP-dependent, catalytic, gamma							49.0	49.0	49.0					9																	71628433		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628433C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.576G>A	9.37:g.71628433C>T							p.V192V	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	606	-			192			Protein kinase.		O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.576G>A	CCDS6625.1																																																																																				0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			4	45	0	0	0	1	0	4	45				
THEMIS	387357	broad.mit.edu	37	6	128150845	128150845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:128150845G>A	ENST00000368248.2	-	3	633	c.485C>T	c.(484-486)tCa>tTa	p.S162L	THEMIS_ENST00000368250.1_Missense_Mutation_p.S83L|THEMIS_ENST00000543064.1_Missense_Mutation_p.S162L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S127L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	162	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAAATTAAATGAGTGAGTTTG	0.383																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(247-249)tCa>tTa		thymocyte selection associated							153.0	149.0	150.0					6																	128150845		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150845G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.485C>T	6.37:g.128150845G>A	ENSP00000357231:p.Ser162Leu					THEMIS_ENST00000368248.2_Missense_Mutation_p.S162L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S127L|THEMIS_ENST00000543064.1_Missense_Mutation_p.S162L	p.S83L			Q8N1K5	THMS1_HUMAN			4	746	-			162			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.248C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335242	0.41398	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	6.14	5.25	0.73442	.	0.236217	0.36703	N	0.002441	T	0.19046	0.0457	L	0.55103	1.725	0.36369	D	0.861168	P;D	0.63880	0.794;0.993	B;D	0.63113	0.31;0.911	T	0.02868	-1.1100	10	0.25106	T	0.35	-3.9528	17.3859	0.87415	0.0:0.1247:0.8753:0.0	.	162;162	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	83;162;162;127	ENSP00000357233:S83L;ENSP00000439594:S162L;ENSP00000357231:S162L;ENSP00000439863:S127L	ENSP00000357231:S162L	S	-	2	0	THEMIS	128192538	0.984000	0.35163	0.767000	0.31495	0.378000	0.30076	3.662000	0.54510	1.561000	0.49584	0.650000	0.86243	TCA		0.383	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		14	81	0	0	0	1	0	14	81				
IL18BP	10068	broad.mit.edu	37	11	71716366	71716366	+	IGR	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71716366C>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000393695.3_Silent_p.L1914L|NUMA1_ENST00000351960.6_Silent_p.L778L|NUMA1_ENST00000358965.6_Silent_p.L1900L	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TCCAGTCATCCAGCTGCTCAG	0.597																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5740-5742)ctG>ctT		nuclear mitotic apparatus protein 1							103.0	87.0	92.0					11																	71716366		2200	4293	6493	SO:0001628	intergenic_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71716366C>A	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71716366C>A						NUMA1_ENST00000358965.6_Silent_p.L1900L|NUMA1_ENST00000351960.6_Silent_p.L778L	p.L1914L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			23	6073	-			1914					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Silent	SNP	ENST00000393703.4	37	c.5742G>T	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	C	9.314	1.056260	0.19907	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	T	0.73682	0.3618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72962	-0.4132	4	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	.	.	.	L	763	.	.	W	-	2	0	NUMA1	71394014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.976000	0.29462	2.517000	0.84864	0.655000	0.94253	TGG		0.597	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		15	66	1	0	3.41278e-10	1	3.5693e-10	15	66				
CROCCP2	84809	broad.mit.edu	37	1	16953709	16953709	+	lincRNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16953709C>T	ENST00000412962.1	-	0	552							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGGCGCGGCTCAGCGCCTCCC	0.642																																						ENST00000412962.1																			0																																																			84809							g.chr1:16953709C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953709C>T														0	552	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	61	0	0	0	1	0	6	61				
DAXX	1616	broad.mit.edu	37	6	33289578	33289578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33289578G>A	ENST00000374542.5	-	2	329	c.125C>T	c.(124-126)tCt>tTt	p.S42F	DAXX_ENST00000266000.6_Missense_Mutation_p.S42F|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	42	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ATGAGGCTCAGAGGAGCTAGG	0.587			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(124-126)tCt>tTt		death-domain associated protein							145.0	151.0	149.0					6																	33289578		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289578G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.125C>T	6.37:g.33289578G>A	ENSP00000363668:p.Ser42Phe					DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.S42F|DAXX_ENST00000477162.1_5'UTR	p.S42F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			2	329	-			42			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.125C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891404	0.33442	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407;ENST00000446511	.	.	.	5.01	4.12	0.48240	.	0.310145	0.31438	N	0.007659	T	0.54303	0.1850	L	0.57536	1.79	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.54629	0.757;0.64	T	0.59375	-0.7466	9	0.66056	D	0.02	-13.2358	9.4579	0.38767	0.0986:0.0:0.9014:0.0	.	54;42	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	42	.	ENSP00000266000:S42F	S	-	2	0	DAXX	33397556	0.999000	0.42202	0.923000	0.36655	0.430000	0.31655	3.315000	0.51951	2.606000	0.88127	0.549000	0.68633	TCT		0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			6	300	0	0	0	1	0	6	300				
MED11	400569	broad.mit.edu	37	17	4635168	4635168	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4635168G>A	ENST00000293777.5	+	2	239	c.183G>A	c.(181-183)gcG>gcA	p.A61A	MED11_ENST00000575284.1_Silent_p.A61A|MED11_ENST00000573708.1_Silent_p.A61A|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	61						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						ACGTGGAGGCGGAGCTGTCAG	0.597											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293777.5																			0				lung(2)|ovary(2)	4						c.(181-183)gcG>gcA		mediator complex subunit 11							39.0	41.0	40.0					17																	4635168		2203	4300	6503	SO:0001819	synonymous_variant	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4635168G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.183G>A	17.37:g.4635168G>A			OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	MED11_ENST00000573708.1_Silent_p.A61A|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Silent_p.A61A	p.A61A	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN			2	239	+			61					Q6NS89	Silent	SNP	ENST00000293777.5	37	c.183G>A	CCDS32533.1																																																																																				0.597	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		14	47	0	0	0	1	0	14	47				
ITPR2	3709	broad.mit.edu	37	12	26818867	26818867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:26818867C>T	ENST00000381340.3	-	14	1943	c.1527G>A	c.(1525-1527)atG>atA	p.M509I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	509	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTGTTCCCTCATCAATTTTT	0.348																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1525-1527)atG>atA		inositol 1,4,5-trisphosphate receptor, type 2							117.0	104.0	108.0					12																	26818867		1822	4095	5917	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26818867C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1527G>A	12.37:g.26818867C>T	ENSP00000370744:p.Met509Ile						p.M509I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			14	1943	-	Colorectal(261;0.0847)		509			Inositol-1,4,5-triphosphate binding (By similarity).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1527G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961197	0.74016	.	.	ENSG00000123104	ENST00000381340	D	0.88975	-2.45	5.27	5.27	0.74061	Intracellular calcium-release channel (1);	0.037203	0.85682	D	0.000000	D	0.92770	0.7701	L	0.54965	1.715	0.80722	D	1	D	0.55800	0.973	D	0.67103	0.949	D	0.91294	0.5061	10	0.36615	T	0.2	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	509	Q14571	ITPR2_HUMAN	I	509	ENSP00000370744:M509I	ENSP00000370744:M509I	M	-	3	0	ITPR2	26710134	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.634000	0.83273	2.716000	0.92895	0.591000	0.81541	ATG		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	46	0	0	0	1	0	11	46				
POLDIP3	84271	broad.mit.edu	37	22	42998051	42998051	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998051C>G	ENST00000252115.5	-	3	566	c.462G>C	c.(460-462)caG>caC	p.Q154H	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	154					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCATGGCTTTCTGCTGTGGAA	0.502																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(460-462)caG>caC		polymerase (DNA-directed), delta interacting protein 3							221.0	193.0	202.0					22																	42998051		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998051C>G		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.462G>C	22.37:g.42998051C>G	ENSP00000252115:p.Gln154His					POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR	p.Q154H	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			3	566	-			154					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.462G>C	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181254	0.57800	.	.	ENSG00000100227	ENST00000252115	.	.	.	5.07	1.73	0.24493	.	0.471593	0.23429	N	0.048262	T	0.41351	0.1155	L	0.46157	1.445	0.80722	D	1	P;P;P	0.44195	0.828;0.57;0.57	B;B;B	0.40782	0.34;0.235;0.235	T	0.22243	-1.0222	9	0.72032	D	0.01	-20.6143	5.3746	0.16158	0.0:0.6151:0.1461:0.2388	.	171;150;154	B4E0L0;Q96DI9;Q9BY77	.;.;PDIP3_HUMAN	H	154	.	ENSP00000252115:Q154H	Q	-	3	2	POLDIP3	41327995	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.689000	0.25437	0.137000	0.18759	0.561000	0.74099	CAG		0.502	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		15	80	0	0	0	1	0	15	80				
DNAJC11	55735	broad.mit.edu	37	1	6697276	6697276	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:6697276G>A	ENST00000377577.5	-	14	1629	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	DNAJC11_ENST00000294401.7_Silent_p.I450I|DNAJC11_ENST00000542246.1_Silent_p.I464I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.I412I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	502						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCGTGAGGATGAGCTTCG	0.552																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1504-1506)atC>atT		DnaJ (Hsp40) homolog, subfamily C, member 11							184.0	141.0	155.0					1																	6697276		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697276G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1506C>T	1.37:g.6697276G>A						DNAJC11_ENST00000294401.7_Silent_p.I450I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.I412I|DNAJC11_ENST00000542246.1_Silent_p.I464I	p.I502I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1629	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	502					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1506C>T	CCDS87.1																																																																																				0.552	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		13	72	0	0	0	1	0	13	72				
PLCL1	5334	broad.mit.edu	37	2	198949573	198949573	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198949573C>G	ENST00000428675.1	+	2	1730	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	PLCL1_ENST00000437704.2_Silent_p.L346L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	444	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L346L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCGTTGAACTCGATGTAAGTG	0.398																																						ENST00000428675.1																			1	Substitution - coding silent(1)	p.L346L(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1330-1332)ctC>ctG		phospholipase C-like 1	Quinacrine(DB01103)						61.0	58.0	59.0					2																	198949573		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949573C>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1332C>G	2.37:g.198949573C>G						PLCL1_ENST00000437704.2_Silent_p.L346L	p.L444L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1730	+			444			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.1332C>G	CCDS2326.2																																																																																				0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		11	35	0	0	0	1	0	11	35				
SLC6A19	340024	broad.mit.edu	37	5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A	rs373991930		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1214110G>A	ENST00000304460.10	+	6	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	273					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(817-819)Gca>Aca		solute carrier family 6 (neutral amino acid transporter), member 19		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	90.0	91.0		817	3.2	0.2	5		91	0,8600		0,0,4300	no	missense	SLC6A19	NM_001003841.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/635	1214110	1,13005	2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214110G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.817G>A	5.37:g.1214110G>A	ENSP00000305302:p.Ala273Thr						p.A273T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	873	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		273					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.817G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	3.003	-0.205525	0.06180	2.27E-4	0.0	ENSG00000174358	ENST00000304460	T	0.73047	-0.71	4.96	3.18	0.36537	.	0.268254	0.42294	N	0.000722	T	0.38374	0.1038	N	0.02379	-0.575	0.54753	D	0.999985	B	0.12013	0.005	B	0.16289	0.015	T	0.36261	-0.9755	10	0.02654	T	1	.	10.1766	0.42941	0.1631:0.0:0.8369:0.0	.	273	Q695T7	S6A19_HUMAN	T	273	ENSP00000305302:A273T	ENSP00000305302:A273T	A	+	1	0	SLC6A19	1267110	1.000000	0.71417	0.206000	0.23566	0.524000	0.34500	3.714000	0.54889	0.509000	0.28195	0.491000	0.48974	GCA		0.647	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		21	95	0	0	0	1	0	21	95				
SRGAP1	57522	broad.mit.edu	37	12	64436735	64436735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:64436735G>A	ENST00000355086.3	+	5	1179	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E219K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E179K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	219	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAGAAAATTGAAAAAATGAA	0.388																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(655-657)Gaa>Aaa		SLIT-ROBO Rho GTPase activating protein 1							41.0	44.0	43.0					12																	64436735		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64436735G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.655G>A	12.37:g.64436735G>A	ENSP00000347198:p.Glu219Lys					SRGAP1_ENST00000357825.3_Missense_Mutation_p.E219K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E179K|RP11-196H14.2_ENST00000535594.1_RNA	p.E219K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	5	1179	+			219					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.655G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940225	0.73557	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.43688	0.94;0.94;2.62	5.34	5.34	0.76211	.	0.000000	0.36002	U	0.002860	T	0.62998	0.2474	M	0.70787	2.145	0.80722	D	1	B;P;D	0.61697	0.413;0.659;0.99	B;P;P	0.62014	0.14;0.477;0.897	T	0.61700	-0.7009	9	.	.	.	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	219;179;219	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	219;219;179	ENSP00000347198:E219K;ENSP00000350480:E219K;ENSP00000437948:E179K	.	E	+	1	0	SRGAP1	62723002	1.000000	0.71417	0.988000	0.46212	0.582000	0.36321	7.805000	0.86005	2.680000	0.91292	0.563000	0.77884	GAA		0.388	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			7	33	0	0	0	1	0	7	33				
BTAF1	9044	broad.mit.edu	37	10	93711270	93711270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:93711270G>A	ENST00000265990.6	+	5	819	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	171					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTTCAATGATGAGGATTT	0.363																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(511-513)Gat>Aat		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							122.0	121.0	122.0					10																	93711270		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93711270G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.511G>A	10.37:g.93711270G>A	ENSP00000265990:p.Asp171Asn						p.D171N	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			5	819	+		Colorectal(252;0.0846)	171					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.511G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067495	0.55539	.	.	ENSG00000095564	ENST00000265990	D	0.90844	-2.74	5.13	5.13	0.70059	Armadillo-type fold (1);	0.101417	0.64402	D	0.000003	D	0.89234	0.6657	M	0.72353	2.195	0.80722	D	1	P	0.35050	0.482	B	0.27076	0.076	D	0.88420	0.3028	10	0.37606	T	0.19	-0.1429	18.9519	0.92644	0.0:0.0:1.0:0.0	.	171	O14981	BTAF1_HUMAN	N	171	ENSP00000265990:D171N	ENSP00000265990:D171N	D	+	1	0	BTAF1	93701250	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.420000	0.97426	2.563000	0.86464	0.591000	0.81541	GAT		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		5	119	0	0	0	1	0	5	119				
FAM47C	442444	broad.mit.edu	37	X	37028873	37028873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:37028873C>G	ENST00000358047.3	+	1	2442	c.2390C>G	c.(2389-2391)tCc>tGc	p.S797C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	797										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTCGAGTGTCCAGTCTCCGC	0.607																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2389-2391)tCc>tGc		family with sequence similarity 47, member C							42.0	43.0	42.0					X																	37028873		2201	4300	6501	SO:0001583	missense	442444							g.chrX:37028873C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2390C>G	X.37:g.37028873C>G	ENSP00000367913:p.Ser797Cys						p.S797C	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2442	+			797					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2390C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390613	0.25118	.	.	ENSG00000198173	ENST00000358047	T	0.20332	2.08	0.217	0.217	0.15264	.	.	.	.	.	T	0.38931	0.1059	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.11665	-1.0578	9	0.56958	D	0.05	.	6.1626	0.20372	0.0:0.9996:0.0:4.0E-4	.	797	Q5HY64	FA47C_HUMAN	C	797	ENSP00000367913:S797C	ENSP00000367913:S797C	S	+	2	0	FAM47C	36938794	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.009000	0.13219	0.273000	0.22049	0.277000	0.19347	TCC		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	36	0	0	0	1	0	3	36				
SNX29	92017	broad.mit.edu	37	16	12172706	12172706	+	Missense_Mutation	SNP	C	C	G	rs201653748	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:12172706C>G	ENST00000566228.1	+	11	1405	c.1336C>G	c.(1336-1338)Cca>Gca	p.P446A	SNX29_ENST00000323433.4_Missense_Mutation_p.P61A|SNX29_ENST00000306030.3_Missense_Mutation_p.P61A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	446						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCCAGCTCTCCAGGCCACGG	0.537																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1336-1338)Cca>Gca		sorting nexin 29							68.0	67.0	67.0					16																	12172706		2002	4172	6174	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12172706C>G	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1336C>G	16.37:g.12172706C>G	ENSP00000456480:p.Pro446Ala					SNX29_ENST00000323433.4_Missense_Mutation_p.P61A|SNX29_ENST00000306030.3_Missense_Mutation_p.P61A	p.P446A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			11	1405	+			61					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1336C>G	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	9.427	1.084522	0.20309	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.26	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.39898	1.24	0.23953	N	0.996362	P	0.48834	0.916	B	0.43123	0.409	T	0.15122	-1.0448	9	0.28530	T	0.3	-8.3108	11.4184	0.49967	0.1787:0.8212:0.0:0.0	.	446	Q8TEQ0	SNX29_HUMAN	A	61	.	ENSP00000306940:P61A	P	+	1	0	SNX29	12080207	1.000000	0.71417	0.972000	0.41901	0.795000	0.44927	1.677000	0.37576	2.468000	0.83385	0.558000	0.71614	CCA		0.537	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			4	10	0	0	0	1	0	4	10				
MUC17	140453	broad.mit.edu	37	7	100684409	100684409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100684409G>A	ENST00000306151.4	+	3	9776	c.9712G>A	c.(9712-9714)Gag>Aag	p.E3238K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3238	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAT	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9712-9714)Gag>Aag		mucin 17, cell surface associated							258.0	266.0	263.0					7																	100684409		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684409G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9712G>A	7.37:g.100684409G>A	ENSP00000302716:p.Glu3238Lys						p.E3238K	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9776	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3238			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9712G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.512036	0.27036	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	1.24	-1.32	0.09201	.	.	.	.	.	T	0.02929	0.0087	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.24476	-1.0159	9	0.06236	T	0.91	.	3.9072	0.09188	0.1866:0.2474:0.566:0.0	.	3238	Q685J3	MUC17_HUMAN	K	3238	ENSP00000302716:E3238K	ENSP00000302716:E3238K	E	+	1	0	MUC17	100471129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.013000	0.12678	-0.375000	0.07955	0.134000	0.15878	GAG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		90	397	0	0	0	1	0	90	397				
PTPRU	10076	broad.mit.edu	37	1	29631880	29631880	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29631880G>A	ENST00000345512.3	+	19	2919	c.2790G>A	c.(2788-2790)gtG>gtA	p.V930V	PTPRU_ENST00000373779.3_Silent_p.V920V|PTPRU_ENST00000323874.8_Silent_p.V920V|PTPRU_ENST00000428026.2_Silent_p.V920V|PTPRU_ENST00000356870.3_Silent_p.V920V|PTPRU_ENST00000460170.2_Silent_p.V920V|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	930	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGCACCGAGTGAAACTGCACC	0.577																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2758-2760)gtG>gtA		protein tyrosine phosphatase, receptor type, U							134.0	115.0	121.0					1																	29631880		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29631880G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2790G>A	1.37:g.29631880G>A						PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.V920V|PTPRU_ENST00000356870.3_Silent_p.V920V|PTPRU_ENST00000428026.2_Silent_p.V920V|PTPRU_ENST00000460170.2_Silent_p.V920V|PTPRU_ENST00000345512.3_Silent_p.V930V	p.V920V			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	18	2870	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	930			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2760G>A	CCDS334.1																																																																																				0.577	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			21	89	0	0	0	1	0	21	89				
DCST2	127579	broad.mit.edu	37	1	155001821	155001821	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155001821G>A	ENST00000368424.3	-	8	1288	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DCST2_ENST00000295536.5_Silent_p.F410F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	410						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGATAAGGTTGAAGGTCTCCA	0.552																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1228-1230)ttC>ttT		DC-STAMP domain containing 2							142.0	132.0	135.0					1																	155001821		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155001821G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1230C>T	1.37:g.155001821G>A						DCST2_ENST00000295536.5_Silent_p.F410F	p.F410F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1288	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		410					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.1230C>T	CCDS1082.2																																																																																				0.552	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		20	110	0	0	0	1	0	20	110				
PPP1R12B	4660	broad.mit.edu	37	1	202407120	202407120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202407120C>T	ENST00000608999.1	+	10	1579	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R476W|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R476W|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	476					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAAGCCCTCGGATTTCTGC	0.473																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1426-1428)Cgg>Tgg		protein phosphatase 1, regulatory subunit 12B							99.0	99.0	99.0					1																	202407120		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202407120C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1426C>T	1.37:g.202407120C>T	ENSP00000476755:p.Arg476Trp					PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R476W|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R476W|PPP1R12B_ENST00000356764.2_3'UTR	p.R476W	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1579	+			476					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1426C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181047	0.78677	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184	T;T;T	0.76839	0.63;0.6;-1.05	5.79	4.85	0.62838	.	0.000000	0.56097	D	0.000022	D	0.87904	0.6295	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	D	0.88109	0.2824	10	0.51188	T	0.08	.	13.7067	0.62644	0.3761:0.6239:0.0:0.0	.	476;476;476	O60237;F8W8M3;Q2TAI8	MYPT2_HUMAN;.;.	W	476	ENSP00000384496:R476W;ENSP00000337897:R476W;ENSP00000417159:R476W	ENSP00000337897:R476W	R	+	1	2	PPP1R12B	200673743	0.791000	0.28800	1.000000	0.80357	0.991000	0.79684	0.883000	0.28200	2.722000	0.93159	0.655000	0.94253	CGG		0.473	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		27	84	0	0	0	1	0	27	84				
ITFG2	55846	broad.mit.edu	37	12	2922011	2922011	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:2922011G>C	ENST00000228799.2	+	1	224	c.85G>C	c.(85-87)Gat>Cat	p.D29H	RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.6_ENST00000552469.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	29					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGGAGACGTTGATAACGATAC	0.627																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(85-87)Gat>Cat		integrin alpha FG-GAP repeat containing 2							90.0	85.0	86.0					12																	2922011		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2922011G>C	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.85G>C	12.37:g.2922011G>C	ENSP00000228799:p.Asp29His					RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_5'UTR	p.D29H	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	224	+			29					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.85G>C	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209553	0.39003	.	.	ENSG00000111203	ENST00000228799	T	0.78246	-1.16	5.36	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.63843	1.955	0.80722	D	1	D;B	0.89917	1.0;0.413	D;B	0.97110	1.0;0.219	D	0.87545	0.2461	10	0.87932	D	0	-4.3393	15.0289	0.71691	0.0:0.143:0.857:0.0	.	29;29	Q969R8;Q6PKU5	ITFG2_HUMAN;.	H	29	ENSP00000228799:D29H	ENSP00000228799:D29H	D	+	1	0	ITFG2	2792272	1.000000	0.71417	0.965000	0.40720	0.447000	0.32167	8.855000	0.92236	1.240000	0.43803	0.650000	0.86243	GAT		0.627	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		23	111	0	0	0	1	0	23	111				
IL20RA	53832	broad.mit.edu	37	6	137323468	137323468	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:137323468C>G	ENST00000316649.5	-	7	1124	c.889G>C	c.(889-891)Gac>Cac	p.D297H	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.D186H|IL20RA_ENST00000541547.1_Missense_Mutation_p.D248H|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	297					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AATCTTTTGTCAAATTCATTT	0.303																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(556-558)Gac>Cac		interleukin 20 receptor, alpha							28.0	33.0	31.0					6																	137323468		2187	4254	6441	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323468C>G	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.889G>C	6.37:g.137323468C>G	ENSP00000314976:p.Asp297His					IL20RA_ENST00000541547.1_Missense_Mutation_p.D248H|IL20RA_ENST00000316649.5_Missense_Mutation_p.D297H	p.D186H			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1142	-	Colorectal(23;0.24)		297			Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.556G>C	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546369	0.65198	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.61158	0.4;1.84;0.13	5.88	5.01	0.66863	.	0.714559	0.14328	N	0.326554	T	0.56499	0.1989	L	0.56769	1.78	0.28574	N	0.910497	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.921	T	0.51795	-0.8660	10	0.34782	T	0.22	-11.1912	8.9283	0.35655	0.0:0.8324:0.0:0.1676	.	186;297	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	H	297;186;248	ENSP00000314976:D297H;ENSP00000356722:D186H;ENSP00000437843:D248H	ENSP00000314976:D297H	D	-	1	0	IL20RA	137365161	0.986000	0.35501	0.998000	0.56505	0.987000	0.75469	1.363000	0.34159	1.481000	0.48307	0.655000	0.94253	GAC		0.303	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		9	38	0	0	0	1	0	9	38				
GTPBP8	29083	broad.mit.edu	37	3	112709965	112709965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112709965C>T	ENST00000383678.2	+	1	201	c.119C>T	c.(118-120)cCg>cTg	p.P40L	GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000467752.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383677.3_Missense_Mutation_p.P40L	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	40					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CTGCGGCTGCCGAAGCAGCAG	0.597																																						ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(118-120)cCg>cTg		GTP-binding protein 8 (putative)							24.0	30.0	28.0					3																	112709965		2140	4159	6299	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112709965C>T	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.119C>T	3.37:g.112709965C>T	ENSP00000373176:p.Pro40Leu					GTPBP8_ENST00000383678.2_Missense_Mutation_p.P40L	p.P40L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN			1	134	+			40					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.119C>T	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404198	0.83230	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.50813	0.9;0.73	6.17	6.17	0.99709	.	0.182870	0.48767	D	0.000174	T	0.65270	0.2675	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.64687	0.928;0.829	T	0.66689	-0.5860	10	0.72032	D	0.01	-18.0687	12.9695	0.58505	0.2568:0.7432:0.0:0.0	.	40;40	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	L	40	ENSP00000373176:P40L;ENSP00000373175:P40L	ENSP00000295864:P40L	P	+	2	0	GTPBP8	114192655	0.876000	0.30132	0.975000	0.42487	0.790000	0.44656	1.602000	0.36783	2.941000	0.99782	0.655000	0.94253	CCG		0.597	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		8	51	0	0	0	1	0	8	51				
SLC12A7	10723	broad.mit.edu	37	5	1075524	1075524	+	Silent	SNP	G	G	A	rs137990661		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19454	0.0		0.001	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1927-1929)ctC>ctT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4402	6.2+/-15.9	0,2,2200	67.0	60.0	63.0		1929	1.3	1.0	5	dbSNP_134	63	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	SLC12A7	NM_006598.2		0,21,6481	AA,AG,GG		0.2209,0.0454,0.1615		643/1084	1075524	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1075524G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1929C>T	5.37:g.1075524G>A							p.L643L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		15	1972	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		643					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1929C>T	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	53	0	0	0	1	0	11	53				
ITIH1	3697	broad.mit.edu	37	3	52824845	52824845	+	Missense_Mutation	SNP	G	G	A	rs144224070	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:52824845G>A	ENST00000273283.2	+	20	2426	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ITIH1_ENST00000540715.1_Missense_Mutation_p.R659Q|ITIH1_ENST00000405128.3_Missense_Mutation_p.R167Q|ITIH1_ENST00000537050.1_Missense_Mutation_p.R513Q|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTTGCACCGAGTGTGGAAG	0.607													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19923	0.0		0.001	False		,,,				2504	0.0					ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2401-2403)cGa>cAa		inter-alpha-trypsin inhibitor heavy chain 1							194.0	162.0	173.0					3																	52824845		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52824845G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2402G>A	3.37:g.52824845G>A	ENSP00000273283:p.Arg801Gln					ITIH1_ENST00000540715.1_Missense_Mutation_p.R659Q|ITIH1_ENST00000537050.1_Missense_Mutation_p.R513Q|ITIH1_ENST00000405128.3_Missense_Mutation_p.R167Q|ITIH1_ENST00000542827.1_3'UTR	p.R801Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	20	2426	+			801			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2402G>A	CCDS2864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.014	0.983138	0.18889	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.75	2.62	0.31277	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.186185	0.47093	D	0.000256	T	0.13415	0.0325	L	0.43598	1.365	0.27897	N	0.939109	P;P;D;B	0.61697	0.571;0.629;0.99;0.201	B;B;P;B	0.50314	0.095;0.075;0.637;0.051	T	0.08911	-1.0699	10	0.17369	T	0.5	-12.1138	5.3954	0.16266	0.4928:0.0:0.5072:0.0	.	659;167;402;801	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	Q	801;659;513;354;167	ENSP00000273283:R801Q;ENSP00000443973:R659Q;ENSP00000443847:R513Q;ENSP00000395836:R354Q;ENSP00000384589:R167Q	ENSP00000273283:R801Q	R	+	2	0	ITIH1	52799885	0.000000	0.05858	0.974000	0.42286	0.379000	0.30106	0.103000	0.15292	0.790000	0.33803	0.655000	0.94253	CGA		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		42	177	0	0	0	1	0	42	177				
RTTN	25914	broad.mit.edu	37	18	67843965	67843965	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:67843965G>A	ENST00000255674.6	-	11	1708	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	RTTN_ENST00000454359.1_Silent_p.I474I|RTTN_ENST00000437017.1_Silent_p.I474I	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	474					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGAAATGCTGATAAAGGCCA	0.453																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1420-1422)atC>atT		rotatin							132.0	133.0	133.0					18																	67843965		1943	4159	6102	SO:0001819	synonymous_variant	25914						binding	g.chr18:67843965G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1422C>T	18.37:g.67843965G>A						RTTN_ENST00000454359.1_Silent_p.I474I|RTTN_ENST00000437017.1_Silent_p.I474I	p.I474I	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			11	1708	-		Esophageal squamous(42;0.129)	474					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.1422C>T	CCDS42443.1																																																																																				0.453	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		26	90	0	0	0	1	0	26	90				
COL10A1	1300	broad.mit.edu	37	6	116443107	116443107	+	Missense_Mutation	SNP	C	C	G	rs371683017		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:116443107C>G	ENST00000327673.4	-	2	579	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.E58Q			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	58	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTACCTTGCTCTCCTCTTACT	0.517																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(172-174)Gag>Cag		collagen, type X, alpha 1							101.0	97.0	98.0					6																	116443107		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116443107C>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.172G>C	6.37:g.116443107C>G	ENSP00000327368:p.Glu58Gln					NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.E58Q	p.E58Q			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	579	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	58			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.172G>C	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	C	4.269	0.049086	0.08243	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.94184	-3.24;-3.24;-3.37	5.42	3.61	0.41365	.	0.204170	0.34178	N	0.004195	D	0.85796	0.5780	L	0.47016	1.485	0.45979	D	0.998798	B	0.12013	0.005	B	0.23852	0.049	T	0.79438	-0.1803	10	0.24483	T	0.36	.	16.2105	0.82151	0.0:0.7489:0.2511:0.0	.	58	Q03692	COAA1_HUMAN	Q	58	ENSP00000243222:E58Q;ENSP00000327368:E58Q;ENSP00000411285:E58Q	ENSP00000243222:E58Q	E	-	1	0	COL10A1	116549800	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	2.125000	0.42016	0.741000	0.32674	0.561000	0.74099	GAG		0.517	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			24	128	0	0	0	1	0	24	128				
CECR2	27443	broad.mit.edu	37	22	17983900	17983900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:17983900G>A	ENST00000400585.2	+	7	671	c.233G>A	c.(232-234)gGt>gAt	p.G78D	CECR2_ENST00000400573.5_Missense_Mutation_p.G219D|CECR2_ENST00000262608.8_Missense_Mutation_p.G200D|CECR2_ENST00000342247.5_Missense_Mutation_p.G199D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	241					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCCAAGGTACTTGGTGG	0.498																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(598-600)gGt>gAt		cat eye syndrome chromosome region, candidate 2							96.0	100.0	99.0					22																	17983900		1901	4114	6015	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17983900G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.233G>A	22.37:g.17983900G>A	ENSP00000383428:p.Gly78Asp					CECR2_ENST00000400573.4_Missense_Mutation_p.G219D|CECR2_ENST00000342247.5_Missense_Mutation_p.G199D|CECR2_ENST00000400585.2_Missense_Mutation_p.G78D	p.G200D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	6	599	+		all_epithelial(15;0.139)	241					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.599G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.017165	0.93404	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.21	5.21	0.72293	.	0.000000	0.53938	D	0.000043	T	0.69735	0.3144	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.72846	-0.4169	10	0.87932	D	0	-15.5771	19.1212	0.93364	0.0:0.0:1.0:0.0	.	241;78;241;219	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	D	199;78;219;200	ENSP00000341219:G199D;ENSP00000383428:G78D;ENSP00000383417:G219D;ENSP00000262608:G200D	ENSP00000262608:G200D	G	+	2	0	CECR2	16363900	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.420000	0.97426	2.595000	0.87683	0.561000	0.74099	GGT		0.498	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		7	82	0	0	0	1	0	7	82				
DMXL1	1657	broad.mit.edu	37	5	118451886	118451886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:118451886G>C	ENST00000311085.8	+	7	678	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E200Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	200										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTATAATGTAGAAAACTGGCG	0.358																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(598-600)Gaa>Caa		Dmx-like 1							77.0	78.0	78.0					5																	118451886		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118451886G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.598G>C	5.37:g.118451886G>C	ENSP00000309690:p.Glu200Gln					DMXL1_ENST00000539542.1_Missense_Mutation_p.E200Q	p.E200Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	7	678	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	200						Missense_Mutation	SNP	ENST00000311085.8	37	c.598G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946427	0.53186	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.65549	1.94;-0.16;2.94	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.254466	0.45606	D	0.000355	T	0.59101	0.2169	L	0.39633	1.23	0.37923	D	0.931764	P;B	0.40250	0.709;0.411	B;B	0.41946	0.371;0.205	T	0.63598	-0.6601	10	0.38643	T	0.18	-14.3915	18.5563	0.91086	0.0:0.0:1.0:0.0	.	200;200	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	200	ENSP00000427692:E200Q;ENSP00000309690:E200Q;ENSP00000439479:E200Q	ENSP00000309690:E200Q	E	+	1	0	DMXL1	118479785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.886000	0.75611	2.465000	0.83290	0.650000	0.86243	GAA		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		11	43	0	0	0	1	0	11	43				
PARP14	54625	broad.mit.edu	37	3	122432775	122432775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:122432775C>T	ENST00000474629.2	+	11	4092	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1276	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAATGTTCTCAGCAAGGTAA	0.398																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3826-3828)Cag>Tag		poly (ADP-ribose) polymerase family, member 14							233.0	204.0	213.0					3																	122432775		1867	4096	5963	SO:0001587	stop_gained	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122432775C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3826C>T	3.37:g.122432775C>T	ENSP00000418194:p.Gln1276*						p.Q1276*	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	11	4092	+			1276			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	c.3826C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876198	0.97055	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.51	-3.12	0.05282	.	2.837120	0.00890	N	0.002235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	12.2491	0.54587	0.2822:0.2086:0.5092:0.0	.	.	.	.	X	1276;1195;272	.	ENSP00000381224:Q272X	Q	+	1	0	PARP14	123915465	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-1.962000	0.01514	-0.388000	0.07797	0.557000	0.71058	CAG		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		12	68	0	0	0	1	0	12	68				
FAT4	79633	broad.mit.edu	37	4	126238058	126238058	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126238058C>T	ENST00000394329.3	+	1	505	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCGGACATCGGCTCAAACG	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(490-492)atC>atT		FAT atypical cadherin 4							35.0	39.0	38.0					4																	126238058		2078	4204	6282	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238058C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.492C>T	4.37:g.126238058C>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.I164I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	505	+			164			Cadherin 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.492C>T	CCDS3732.3																																																																																				0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	22	0	0	0	1	0	9	22				
UNC79	57578	broad.mit.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:94088400G>C	ENST00000393151.2	+	30	4821	c.4821G>C	c.(4819-4821)ctG>ctC	p.L1607L	UNC79_ENST00000553484.1_Silent_p.L1629L|UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000555664.1_Silent_p.L1607L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473																																						ENST00000553484.1																			2	Substitution - coding silent(2)	p.L1430L(1)|p.L1629L(1)	urinary_tract(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4885-4887)ctG>ctC		unc-79 homolog (C. elegans)							70.0	74.0	73.0					14																	94088400		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088400G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4821G>C	14.37:g.94088400G>C						UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000393151.2_Silent_p.L1607L	p.L1629L			Q9P2D8	UNC79_HUMAN			31	5041	+			1607					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4887G>C																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		20	83	0	0	0	1	0	20	83				
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:10362664G>A	ENST00000255381.2	-	15	1601	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	497	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1489-1491)ttC>ttT		myosin, heavy chain 4, skeletal muscle							176.0	153.0	160.0					17																	10362664		2203	4297	6500	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10362664G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1491C>T	17.37:g.10362664G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.F497F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			15	1601	-			497			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1491C>T	CCDS11154.1																																																																																				0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		20	112	0	0	0	1	0	20	112				
KDSR	2531	broad.mit.edu	37	18	61018259	61018259	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:61018259G>A	ENST00000406396.3	-	6	862	c.471C>T	c.(469-471)atC>atT	p.I157I	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	157					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCATGGTGGTGATCACGGCCC	0.557																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(469-471)atC>atT		3-ketodihydrosphingosine reductase							92.0	90.0	90.0					18																	61018259		2203	4300	6503	SO:0001819	synonymous_variant	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018259G>A		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.471C>T	18.37:g.61018259G>A						KDSR_ENST00000326575.5_Intron	p.I157I	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	862	-			157					B2R5Y1|B4DMX0	Silent	SNP	ENST00000406396.3	37	c.471C>T	CCDS11982.1																																																																																				0.557	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			18	94	0	0	0	1	0	18	94				
CARD10	29775	broad.mit.edu	37	22	37902275	37902275	+	Missense_Mutation	SNP	G	G	A	rs201397783		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:37902275G>A	ENST00000403299.1	-	8	1523	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	CARD10_ENST00000251973.5_Missense_Mutation_p.T436M|CARD10_ENST00000406271.3_Missense_Mutation_p.T150M|CARD10_ENST00000494166.1_5'Flank			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	436					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGTGAGCGTTGTCAGCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17472	0.001		0.0	False		,,,				2504	0.0					ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1306-1308)aCg>aTg		caspase recruitment domain family, member 10		G	MET/THR	0,4406		0,0,2203	45.0	37.0	40.0		1307	4.1	0.0	22		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	CARD10	NM_014550.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	436/1033	37902275	1,13005	2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37902275G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1307C>T	22.37:g.37902275G>A	ENSP00000384570:p.Thr436Met					CARD10_ENST00000251973.5_Missense_Mutation_p.T436M|CARD10_ENST00000406271.3_Missense_Mutation_p.T150M	p.T436M			Q9BWT7	CAR10_HUMAN			8	1523	-	Melanoma(58;0.0574)		436					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.1307C>T	CCDS13948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.661	0.306671	0.10733	0.0	1.16E-4	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.13	4.11	0.48088	.	0.570135	0.19248	N	0.119010	T	0.60235	0.2253	N	0.16478	0.41	0.09310	N	1	B;B	0.22851	0.017;0.076	B;B	0.17722	0.006;0.019	T	0.51957	-0.8639	10	0.46703	T	0.11	-3.9216	7.3188	0.26515	0.0853:0.0:0.6361:0.2786	.	436;150	Q9BWT7;Q8NC81	CAR10_HUMAN;.	M	436;150;436;77	ENSP00000384570:T436M;ENSP00000385799:T150M;ENSP00000251973:T436M;ENSP00000416239:T77M	ENSP00000251973:T436M	T	-	2	0	CARD10	36232221	0.975000	0.34042	0.042000	0.18584	0.128000	0.20619	3.193000	0.50997	1.146000	0.42352	0.561000	0.74099	ACG		0.642	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		9	26	0	0	0	1	0	9	26				
PPP1R13B	23368	broad.mit.edu	37	14	104205305	104205305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104205305C>T	ENST00000202556.9	-	13	2930	c.2648G>A	c.(2647-2649)aGa>aAa	p.R883K	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R302K|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	883					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAACCGGACTCTCAGCCCGTG	0.577																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2647-2649)aGa>aAa		protein phosphatase 1, regulatory subunit 13B							107.0	115.0	113.0					14																	104205305		1995	4177	6172	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205305C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2648G>A	14.37:g.104205305C>T	ENSP00000202556:p.Arg883Lys					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R302K	p.R883K	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2930	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	883					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.2648G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467673	0.96257	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.60040	0.55;0.22	5.41	5.41	0.78517	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.67700	2.07	0.80722	D	1	P	0.45283	0.855	P	0.58266	0.836	T	0.72757	-0.4197	10	0.54805	T	0.06	.	19.3981	0.94617	0.0:1.0:0.0:0.0	.	883	Q96KQ4	ASPP1_HUMAN	K	883;302	ENSP00000202556:R883K;ENSP00000395213:R302K	ENSP00000202556:R883K	R	-	2	0	PPP1R13B	103275058	1.000000	0.71417	0.498000	0.27564	0.695000	0.40330	7.588000	0.82629	2.826000	0.97356	0.561000	0.74099	AGA		0.577	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		29	131	0	0	0	1	0	29	131				
STX12	23673	broad.mit.edu	37	1	28120102	28120102	+	Missense_Mutation	SNP	G	G	C	rs200386519		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:28120102G>C	ENST00000373943.4	+	3	372	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	83					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGCTGAAAGAATTAGGGTC	0.388																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(247-249)Gaa>Caa		syntaxin 12							152.0	140.0	144.0					1																	28120102		2203	4300	6503	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28120102G>C	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.247G>C	1.37:g.28120102G>C	ENSP00000363054:p.Glu83Gln					STX12_ENST00000468761.1_3'UTR	p.E83Q	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	3	372	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	83					B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.247G>C	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860791	0.91433	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.30448	1.53	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.091129	0.85682	D	0.000000	T	0.47377	0.1442	L	0.53249	1.67	0.43230	D	0.995125	P	0.52463	0.953	P	0.58873	0.847	T	0.13602	-1.0503	10	0.19147	T	0.46	-2.1737	19.3786	0.94521	0.0:0.0:1.0:0.0	.	83	Q86Y82	STX12_HUMAN	Q	83	ENSP00000363054:E83Q	ENSP00000363054:E83Q	E	+	1	0	STX12	27992689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GAA		0.388	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		9	36	0	0	0	1	0	9	36				
BRSK2	9024	broad.mit.edu	37	11	1471018	1471018	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:1471018C>G	ENST00000528841.1	+	13	1623	c.1239C>G	c.(1237-1239)atC>atG	p.I413M	BRSK2_ENST00000544817.1_Missense_Mutation_p.I108M|BRSK2_ENST00000528710.1_Missense_Mutation_p.I353M|BRSK2_ENST00000382179.1_Missense_Mutation_p.I459M|BRSK2_ENST00000308230.5_Missense_Mutation_p.I435M|BRSK2_ENST00000308219.9_Missense_Mutation_p.I413M|BRSK2_ENST00000526678.1_Missense_Mutation_p.I435M|BRSK2_ENST00000531197.1_Missense_Mutation_p.I413M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	413					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCGGTCCATCAGCGGTGCCT	0.682																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(1237-1239)atC>atG		BR serine/threonine kinase 2							64.0	74.0	71.0					11																	1471018		2048	4190	6238	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1471018C>G	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1239C>G	11.37:g.1471018C>G	ENSP00000432000:p.Ile413Met					BRSK2_ENST00000528710.1_Missense_Mutation_p.I353M|BRSK2_ENST00000531197.1_Missense_Mutation_p.I413M|BRSK2_ENST00000528841.1_Missense_Mutation_p.I413M|BRSK2_ENST00000544817.1_Missense_Mutation_p.I108M|BRSK2_ENST00000308230.5_Missense_Mutation_p.I435M|BRSK2_ENST00000382179.1_Missense_Mutation_p.I459M|BRSK2_ENST00000526678.1_Missense_Mutation_p.I435M	p.I413M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	13	1625	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	413					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1239C>G	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109974	0.37242	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.96	3.04	0.35103	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.55705	0.1937	N	0.22421	0.69	0.40407	D	0.979715	D;D;P;P;P	0.76494	0.957;0.999;0.919;0.835;0.565	P;D;P;P;P	0.70016	0.812;0.967;0.724;0.541;0.672	T	0.54091	-0.8345	10	0.35671	T	0.21	.	13.1923	0.59717	0.0:0.8379:0.1621:0.0	.	435;459;413;413;413	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	M	413;413;435;413;435;353;459;108	ENSP00000310697:I413M;ENSP00000431152:I413M;ENSP00000310805:I435M;ENSP00000432000:I413M;ENSP00000433370:I435M;ENSP00000433235:I353M;ENSP00000371614:I459M;ENSP00000445168:I108M	ENSP00000310697:I413M	I	+	3	3	BRSK2	1427594	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	1.671000	0.37513	0.666000	0.31087	-0.651000	0.03910	ATC		0.682	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		31	126	0	0	0	1	0	31	126				
DNAH8	1769	broad.mit.edu	37	6	38831661	38831661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:38831661C>T	ENST00000359357.3	+	43	5926	c.5672C>T	c.(5671-5673)tCg>tTg	p.S1891L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S1891L|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2108L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1891	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTGCACAGTCGGGTTCCTGG	0.358																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5671-5673)tCg>tTg		dynein, axonemal, heavy chain 8							83.0	82.0	83.0					6																	38831661		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38831661C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5672C>T	6.37:g.38831661C>T	ENSP00000352312:p.Ser1891Leu					DNAH8_ENST00000449981.2_Missense_Mutation_p.S2108L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1891L	p.S1891L							43	5926	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5672C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.136899	0.94517	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.09538	2.97;2.97;2.97	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10245	-1.0638	10	0.72032	D	0.01	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1891	Q96JB1	DYH8_HUMAN	L	2096;2096;1891;1891	ENSP00000333363:S2096L;ENSP00000352312:S1891L;ENSP00000402294:S1891L	ENSP00000333363:S2096L	S	+	2	0	DNAH8	38939639	1.000000	0.71417	0.977000	0.42913	0.935000	0.57460	7.776000	0.85560	2.749000	0.94314	0.491000	0.48974	TCG		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	60	0	0	0	1	0	11	60				
OBSCN	84033	broad.mit.edu	37	1	228563713	228563713	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228563713C>A	ENST00000422127.1	+	99	22835	c.22791C>A	c.(22789-22791)ggC>ggA	p.G7597G	OBSCN_ENST00000570156.2_Silent_p.G8554G|OBSCN_ENST00000366707.4_Silent_p.G5231G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7597	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGGCGGCAGCTGGACCA	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(25660-25662)ggC>ggA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							60.0	64.0	63.0					1																	228563713		2111	4236	6347	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228563713C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22791C>A	1.37:g.228563713C>A						OBSCN_ENST00000366707.4_Silent_p.G5231G|OBSCN_ENST00000422127.1_Silent_p.G7597G	p.G8554G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			110	25736	+		Prostate(94;0.0405)	7597					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.25662C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.739024	0.30774	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.21	1.06	0.20224	.	.	.	.	.	T	0.44222	0.1283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	.	3.2106	0.06681	0.302:0.2414:0.3711:0.0855	.	.	.	.	K	2214	.	.	Q	+	1	0	OBSCN	226630336	0.941000	0.31946	0.998000	0.56505	0.469000	0.32828	0.057000	0.14279	0.369000	0.24510	0.407000	0.27541	CAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	104	1	0	2.27111e-07	1	2.34899e-07	12	104				
HOOK2	29911	broad.mit.edu	37	19	12885628	12885628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12885628C>G	ENST00000397668.3	-	2	202	c.129G>C	c.(127-129)caG>caC	p.Q43H	HOOK2_ENST00000589965.1_5'UTR|HOOK2_ENST00000264827.5_Missense_Mutation_p.Q43H	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	43	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCACTCACATCTGGTTCAGCA	0.592																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(127-129)caG>caC		hook microtubule-tethering protein 2							82.0	85.0	84.0					19																	12885628		2030	4193	6223	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12885628C>G	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.129G>C	19.37:g.12885628C>G	ENSP00000380785:p.Gln43His					HOOK2_ENST00000397668.3_Missense_Mutation_p.Q43H|HOOK2_ENST00000589965.1_5'UTR	p.Q43H	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			2	299	-			43			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.129G>C	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931493	0.73442	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.20738	2.05;2.05	5.13	4.09	0.47781	.	0.218008	0.38272	N	0.001742	T	0.37919	0.1021	M	0.81112	2.525	0.39509	D	0.968339	P;P	0.49783	0.911;0.928	P;P	0.52646	0.581;0.705	T	0.43212	-0.9405	10	0.87932	D	0	-9.4818	10.9533	0.47343	0.0:0.91:0.0:0.09	.	43;43	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	H	43	ENSP00000380785:Q43H;ENSP00000264827:Q43H	ENSP00000264827:Q43H	Q	-	3	2	HOOK2	12746628	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	0.905000	0.28504	1.287000	0.44583	0.561000	0.74099	CAG		0.592	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		7	31	0	0	0	1	0	7	31				
AJUBA	84962	broad.mit.edu	37	14	23447553	23447553	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23447553C>T	ENST00000262713.2	-	2	1483	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site_p.G370R|AJUBA_ENST00000397388.3_5'Flank	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	370	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTACACTCACCACAAGAGCAG	0.537																																						ENST00000262713.2																			0											c.e2+1		ajuba LIM protein							215.0	184.0	194.0					14																	23447553		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447553C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1108+1G>A	14.37:g.23447553C>T						AJUBA_ENST00000361265.4_Splice_Site_p.G370_splice|RP11-298I3.5_ENST00000555074.1_Intron	p.G370_splice	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			2	1483	-			370			LIM zinc-binding 1.		A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37	c.1108_splice	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663538	0.88251	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.87103	-2.21;-2.21	5.02	5.02	0.67125	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.85822	0.5786	L	0.48642	1.525	0.80722	D	1	B	0.26577	0.153	B	0.37304	0.246	T	0.82032	-0.0658	9	.	.	.	.	15.8241	0.78683	0.0:1.0:0.0:0.0	.	370	Q96IF1	JUB_HUMAN	R	370	ENSP00000262713:G370R;ENSP00000354491:G370R	.	G	-	1	0	JUB	22517393	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.398000	0.52579	2.332000	0.79248	0.563000	0.77884	GGG		0.537	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Missense_Mutation	25	127	0	0	0	1	0	25	127				
WHSC1L1	54904	broad.mit.edu	37	8	38148153	38148153	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:38148153C>A	ENST00000317025.8	-	17	3475	c.2958G>T	c.(2956-2958)ctG>ctT	p.L986L	WHSC1L1_ENST00000433384.2_Silent_p.L937L|WHSC1L1_ENST00000527502.1_Silent_p.L986L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	986	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGGATGTTCAGTGGCACAG	0.458			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2956-2958)ctG>ctT		Wolf-Hirschhorn syndrome candidate 1-like 1							105.0	100.0	102.0					8																	38148153		1897	4118	6015	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38148153C>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2958G>T	8.37:g.38148153C>A						WHSC1L1_ENST00000527502.1_Silent_p.L986L|WHSC1L1_ENST00000433384.2_Silent_p.L937L	p.L986L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		17	3475	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	986			PWWP 2.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.2958G>T	CCDS43729.1																																																																																				0.458	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		16	96	1	0	1.15088e-07	1	1.19166e-07	16	96				
EPX	8288	broad.mit.edu	37	17	56270489	56270489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56270489A>G	ENST00000225371.5	+	2	277	c.167A>G	c.(166-168)aAg>aGg	p.K56R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	56					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGGACCCAGAAGAGGTGGACT	0.612																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(166-168)aAg>aGg		eosinophil peroxidase							82.0	83.0	83.0					17																	56270489		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270489A>G	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.167A>G	17.37:g.56270489A>G	ENSP00000225371:p.Lys56Arg						p.K56R	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			2	277	+			56					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.167A>G	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	A	5.966	0.362181	0.11296	.	.	ENSG00000121053	ENST00000225371	T	0.70631	-0.5	4.96	-4.25	0.03766	.	2.322460	0.01168	N	0.006814	T	0.32912	0.0845	N	0.00841	-1.15	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.52924	-0.8510	10	0.02654	T	1	-3.7036	6.1539	0.20326	0.682:0.0:0.1907:0.1273	.	56	P11678	PERE_HUMAN	R	56	ENSP00000225371:K56R	ENSP00000225371:K56R	K	+	2	0	EPX	53625488	0.007000	0.16637	0.484000	0.27391	0.316000	0.28119	1.155000	0.31700	-0.559000	0.06110	-0.394000	0.06481	AAG		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		24	65	0	0	0	1	0	24	65				
CDR1	1038	broad.mit.edu	37	X	139865845	139865845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:139865845C>G	ENST00000370532.2	-	1	878	c.687G>C	c.(685-687)aaG>aaC	p.K229N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	229										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGTCAGTGTCTTCCAGAAAA	0.438																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(685-687)aaG>aaC		cerebellar degeneration-related protein 1, 34kDa							117.0	112.0	114.0					X																	139865845		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865845C>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.687G>C	X.37:g.139865845C>G	ENSP00000359563:p.Lys229Asn						p.K229N	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	878	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	229					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.687G>C	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801286	0.70567	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	T	0.41604	0.1166	N	0.08118	0	0.31029	N	0.717662	D	0.71674	0.998	D	0.68943	0.961	T	0.41822	-0.9487	7	.	.	.	.	13.6273	0.62173	0.0:1.0:0.0:0.0	.	229	P51861	CDR1_HUMAN	N	229	.	.	K	-	3	2	CDR1	139693511	0.002000	0.14202	0.691000	0.30163	0.076000	0.17211	-0.002000	0.12924	2.001000	0.58596	0.422000	0.28245	AAG		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		13	96	0	0	0	1	0	13	96				
KIAA1024	23251	broad.mit.edu	37	15	79749474	79749474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:79749474G>C	ENST00000305428.3	+	2	1060	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	329						integral component of membrane (GO:0016021)		p.E329K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGCAAAGCACGAAAGCTTAGA	0.517																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.E329K(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(985-987)Gaa>Caa		KIAA1024							109.0	114.0	112.0					15																	79749474		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749474G>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.985G>C	15.37:g.79749474G>C	ENSP00000307461:p.Glu329Gln						p.E329Q	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1060	+			329					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.985G>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876924	0.72180	.	.	ENSG00000169330	ENST00000305428	T	0.36157	1.27	5.29	5.29	0.74685	.	0.049873	0.85682	D	0.000000	T	0.61274	0.2334	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60717	-0.7208	9	.	.	.	.	18.9224	0.92530	0.0:0.0:1.0:0.0	.	329	Q9UPX6	K1024_HUMAN	Q	329	ENSP00000307461:E329Q	.	E	+	1	0	KIAA1024	77536529	1.000000	0.71417	0.251000	0.24312	0.764000	0.43329	8.959000	0.93110	2.454000	0.82982	0.591000	0.81541	GAA		0.517	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		26	170	0	0	0	1	0	26	170				
PDIA6	10130	broad.mit.edu	37	2	10942635	10942635	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942635A>T	ENST00000272227.3	-	2	298	c.151T>A	c.(151-153)Tat>Aat	p.Y51N	PDIA6_ENST00000404824.2_Missense_Mutation_p.Y99N|PDIA6_ENST00000540494.1_Missense_Mutation_p.Y48N|PDIA6_ENST00000381611.4_Missense_Mutation_p.Y56N|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404371.2_Missense_Mutation_p.Y103N	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	51	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CATGGAGCATAGAATTCTACA	0.318																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(307-309)Tat>Aat		protein disulfide isomerase family A, member 6							61.0	61.0	61.0					2																	10942635		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10942635A>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.151T>A	2.37:g.10942635A>T	ENSP00000272227:p.Tyr51Asn					PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000272227.3_Missense_Mutation_p.Y51N|PDIA6_ENST00000381611.4_Missense_Mutation_p.Y56N|PDIA6_ENST00000404824.2_Missense_Mutation_p.Y99N|PDIA6_ENST00000540494.1_Missense_Mutation_p.Y48N	p.Y103N			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	4	644	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		51			Thioredoxin 1.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.307T>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846273	0.91277	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	6.03	6.03	0.97812	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.057696	0.64402	D	0.000001	D	0.82783	0.5112	H	0.99425	4.56	0.80722	D	1	P;D;D;D	0.71674	0.944;0.987;0.998;0.97	D;D;D;P	0.73708	0.972;0.974;0.981;0.887	D	0.90495	0.4470	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	48;99;103;51	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	N	51;103;99;48;56	ENSP00000272227:Y51N;ENSP00000385385:Y103N;ENSP00000384459:Y99N;ENSP00000438778:Y48N;ENSP00000371024:Y56N	ENSP00000272227:Y51N	Y	-	1	0	PDIA6	10860086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.474000	0.90413	2.302000	0.77476	0.533000	0.62120	TAT		0.318	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		10	46	0	0	0	1	0	10	46				
NTN3	4917	broad.mit.edu	37	16	2522374	2522374	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:2522374C>G	ENST00000293973.1	+	1	875	c.672C>G	c.(670-672)ctC>ctG	p.L224L	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	224	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GTGTAGTGCTCACAAGGCCTA	0.667																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(670-672)ctC>ctG		netrin 3							40.0	37.0	38.0					16																	2522374		2197	4294	6491	SO:0001819	synonymous_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522374C>G	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.672C>G	16.37:g.2522374C>G							p.L224L	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	875	+			224			Laminin N-terminal.			Silent	SNP	ENST00000293973.1	37	c.672C>G	CCDS10469.1																																																																																				0.667	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		20	51	0	0	0	1	0	20	51				
ERV3-1	2086	broad.mit.edu	37	7	64452834	64452834	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:64452834C>T	ENST00000394323.2	-	2	1071	c.571G>A	c.(571-573)Gat>Aat	p.D191N	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	191						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gttttacaatctggttctaat	0.448																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(571-573)Gat>Aat									155.0	149.0	151.0					7																	64452834		1954	4153	6107	SO:0001583	missense	2086					virion		g.chr7:64452834C>T	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.571G>A	7.37:g.64452834C>T	ENSP00000391594:p.Asp191Asn						p.D191N	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1071	-			191						Missense_Mutation	SNP	ENST00000394323.2	37	c.571G>A	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	5.800	0.331923	0.10956	.	.	ENSG00000213462	ENST00000394323	T	0.19532	2.14	0.109	0.109	0.14578	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.39623	-0.9605	8	0.02654	T	1	.	.	.	.	.	191	Q14264	ENR1_HUMAN	N	191	ENSP00000391594:D191N	ENSP00000391594:D191N	D	-	1	0	ERV3-1	64090269	0.440000	0.25618	0.274000	0.24659	0.275000	0.26752	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GAT		0.448	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		32	141	0	0	0	1	0	32	141				
MED11	400569	broad.mit.edu	37	17	4638732	4638732	+	IGR	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638732G>A	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Nonsense_Mutation_p.Q144*|CXCL16_ENST00000293778.6_Nonsense_Mutation_p.Q144*|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						TCTGAGGCCTGAGAAATTGGG	0.547																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(430-432)Cag>Tag		chemokine (C-X-C motif) ligand 16							40.0	46.0	44.0					17																	4638732		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638732G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638732G>A						CXCL16_ENST00000574412.1_Nonsense_Mutation_p.Q144*|CXCL16_ENST00000576153.1_5'UTR	p.Q144*	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	852	-			125					Q6NS89	Nonsense_Mutation	SNP	ENST00000293777.5	37	c.430C>T	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450333	0.96205	.	.	ENSG00000161921	ENST00000293778	.	.	.	5.69	-3.68	0.04463	.	0.795779	0.10964	N	0.614608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.1138	2.5155	0.04667	0.1162:0.3311:0.1227:0.43	.	.	.	.	X	144	.	ENSP00000293778:Q144X	Q	-	1	0	CXCL16	4585481	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.163000	0.16520	-0.460000	0.07003	-0.502000	0.04539	CAG		0.547	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		8	39	0	0	0	1	0	8	39				
PRM2	5620	broad.mit.edu	37	16	11369770	11369770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:11369770C>T	ENST00000241808.4	-	2	405	c.296G>A	c.(295-297)tGc>tAc	p.C99Y	RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_5'Flank|PRM2_ENST00000435245.2_Missense_Mutation_p.A114T|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	99					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GTGCCTTCTGCATGTTCTCTT	0.552																																						ENST00000435245.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						c.(340-342)Gca>Aca		protamine 2							87.0	93.0	91.0					16																	11369770		1866	4102	5968	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11369770C>T		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.296G>A	16.37:g.11369770C>T	ENSP00000241808:p.Cys99Tyr					RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.C99Y	p.A114T			P04554	PRM2_HUMAN			2	449	-			0					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.340G>A	CCDS42118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870930|1.870930	0.33069|0.33069	.|.	.|.	ENSG00000122304|ENSG00000122304	ENST00000435245|ENST00000241808	.|.	.|.	.|.	3.73|3.73	-1.53|-1.53	0.08611|0.08611	.|.	.|5.503600	.|0.00397	.|N	.|0.000050	T|T	0.33847|0.33847	0.0877|0.0877	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|B	0.32467|0.17852	0.372|0.024	B|B	0.29862|0.12837	0.108|0.008	T|T	0.37596|0.37596	-0.9699|-0.9699	8|9	0.87932|0.87932	D|D	0|0	.|.	7.2595|7.2595	0.26195|0.26195	0.0:0.4625:0.0:0.5375|0.0:0.4625:0.0:0.5375	.|.	114|99	Q6ZMM0|P04554	.|PRM2_HUMAN	T|Y	114|99	.|.	ENSP00000403681:A114T|ENSP00000241808:C99Y	A|C	-|-	1|2	0|0	PRM2|PRM2	11277271|11277271	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.212000|0.212000	0.24457|0.24457	-0.311000|-0.311000	0.08124|0.08124	-0.261000|-0.261000	0.09405|0.09405	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.552	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			17	55	0	0	0	1	0	17	55				
TP53	7157	broad.mit.edu	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	G	rs397516437		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7577543C>G	ENST00000269305.4	-	7	927	c.738G>C	c.(736-738)atG>atC	p.M246I	TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000420246.2_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246I	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	GCCTCCGGTTCATGCCGCCCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(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.(736-738)atG>atC	Other conserved DNA damage response genes	tumor protein p53							152.0	113.0	126.0					17																	7577543		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.chr17:7577543C>G	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.738G>C	17.37:g.7577543C>G	ENSP00000269305:p.Met246Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I	p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	870	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.738G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541663	0.85917	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	43	0	0	0	1	0	16	43				
OR5T3	390154	broad.mit.edu	37	11	56019807	56019807	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56019807G>A	ENST00000303059.3	+	1	132	c.132G>A	c.(130-132)ttG>ttA	p.L44L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(130-132)ttG>ttA		olfactory receptor, family 5, subfamily T, member 3							111.0	111.0	111.0					11																	56019807		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019807G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.132G>A	11.37:g.56019807G>A							p.L44L	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	132	+	Esophageal squamous(21;0.00448)		44					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.132G>A	CCDS31524.1																																																																																				0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		12	54	0	0	0	1	0	12	54				
MKNK1	8569	broad.mit.edu	37	1	47025908	47025908	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:47025908C>T	ENST00000371946.4	-	13	1333	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000371944.4_Silent_p.Q254Q|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000371945.4_Silent_p.Q349Q	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	390					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCATTTACCTCTGGAGGACTT	0.587																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1168-1170)caG>caA		MAP kinase interacting serine/threonine kinase 1							133.0	115.0	121.0					1																	47025908		2203	4300	6503	SO:0001819	synonymous_variant	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47025908C>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1170G>A	1.37:g.47025908C>T						MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000428112.2_Intron|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.Q254Q|MKNK1_ENST00000371945.4_Silent_p.Q349Q	p.Q390Q	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			13	1333	-	Acute lymphoblastic leukemia(166;0.155)		390					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	c.1170G>A	CCDS538.1																																																																																				0.587	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		5	41	0	0	0	1	0	5	41				
EXOSC9	5393	broad.mit.edu	37	4	122723915	122723915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122723915C>T	ENST00000243498.5	+	3	356	c.248C>T	c.(247-249)tCt>tTt	p.S83F	EXOSC9_ENST00000379663.3_Missense_Mutation_p.S83F|EXOSC9_ENST00000512454.1_Missense_Mutation_p.S67F|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	83	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CTTGAACTCTCTCAGATGGCC	0.403																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(199-201)tCt>tTt		exosome component 9							94.0	97.0	96.0					4																	122723915		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723915C>T	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.248C>T	4.37:g.122723915C>T	ENSP00000243498:p.Ser83Phe					EXOSC9_ENST00000243498.5_Missense_Mutation_p.S83F|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.S83F	p.S67F			Q06265	EXOS9_HUMAN			2	416	+			83			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.200C>T	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014288	0.93404	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.95	5.95	0.96441	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89618	0.3846	10	0.87932	D	0	-17.1652	20.3886	0.98946	0.0:1.0:0.0:0.0	.	67;83;83	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	F	83;83;83;67	ENSP00000243498:S83F;ENSP00000368984:S83F;ENSP00000422205:S83F;ENSP00000425782:S67F	ENSP00000243498:S83F	S	+	2	0	EXOSC9	122943365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.728000	0.84847	2.810000	0.96702	0.650000	0.86243	TCT		0.403	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		16	69	0	0	0	1	0	16	69				
LRRC32	2615	broad.mit.edu	37	11	76370753	76370753	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:76370753G>C	ENST00000407242.2	-	3	2126	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L628L|RP11-672A2.4_ENST00000531511.1_lincRNA|LRRC32_ENST00000404995.1_Silent_p.L628L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	628					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGATGATGATGAGGTTGATGT	0.582																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1882-1884)ctC>ctG		leucine rich repeat containing 32							157.0	145.0	149.0					11																	76370753		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76370753G>C	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1884C>G	11.37:g.76370753G>C						AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L628L|LRRC32_ENST00000404995.1_Silent_p.L628L	p.L628L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	2126	-			628					Q86V06	Silent	SNP	ENST00000407242.2	37	c.1884C>G	CCDS8245.1																																																																																				0.582	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		4	137	0	0	0	1	0	4	137				
METAP2	10988	broad.mit.edu	37	12	95887860	95887860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:95887860G>A	ENST00000323666.5	+	5	686	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	METAP2_ENST00000551840.1_Missense_Mutation_p.E152K|METAP2_ENST00000550777.1_Missense_Mutation_p.E117K|METAP2_ENST00000546753.1_Missense_Mutation_p.E130K|METAP2_ENST00000261220.9_Missense_Mutation_p.E130K	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AACTACAAGTGAAGAAAAGAA	0.383																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(457-459)Gaa>Aaa		methionyl aminopeptidase 2	L-Methionine(DB00134)						101.0	91.0	94.0					12																	95887860		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95887860G>A	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.457G>A	12.37:g.95887860G>A	ENSP00000325312:p.Glu153Lys					METAP2_ENST00000550777.1_Missense_Mutation_p.E117K|METAP2_ENST00000551840.1_Missense_Mutation_p.E152K|METAP2_ENST00000261220.9_Missense_Mutation_p.E130K|METAP2_ENST00000546753.1_Missense_Mutation_p.E130K	p.E153K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			5	686	+			153						Missense_Mutation	SNP	ENST00000323666.5	37	c.457G>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471864	0.84533	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000553151;ENST00000550777;ENST00000551840;ENST00000549808	.	.	.	5.41	5.41	0.78517	Peptidase M24, structural domain (2);	0.093440	0.64402	D	0.000001	T	0.81118	0.4756	H	0.95574	3.69	0.80722	D	1	B;B;B;B;B	0.22276	0.04;0.067;0.033;0.013;0.008	B;B;B;B;B	0.18263	0.009;0.012;0.021;0.009;0.004	T	0.81486	-0.0911	9	0.54805	T	0.06	-4.8443	19.1949	0.93684	0.0:0.0:1.0:0.0	.	130;117;130;152;153	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	K	153;130;130;129;117;152;55	.	ENSP00000261220:E130K	E	+	1	0	METAP2	94411991	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.531000	0.85337	0.585000	0.79938	GAA		0.383	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		13	56	0	0	0	1	0	13	56				
TTN	7273	broad.mit.edu	37	2	179536920	179536920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179536920C>T	ENST00000591111.1	-	151	34107	c.33883G>A	c.(33883-33885)Gaa>Aaa	p.E11295K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11669K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10368K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11295	Glu-rich.|Pro-rich.				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)			tctactacttctaattctagt	0.363																																						ENST00000589042.1																			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.(35005-35007)Gaa>Aaa		titin							34.0	29.0	31.0					2																	179536920		1774	3995	5769	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179536920C>T	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.33883G>A	2.37:g.179536920C>T	ENSP00000465570:p.Glu11295Lys					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11295K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10368K	p.E11669K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		155	35229	-			11535			Glu-rich.|Pro-rich.		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.35005G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.371061|2.371061	0.42003|0.42003	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992|ENST00000448510	T|.	0.80123|.	-1.34|.	5.4|5.4	3.59|3.59	0.41128|0.41128	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.22421|0.22421	0.69|0.69	0.20196|0.20196	N|N	0.999928|0.999928	B|.	0.20261|.	0.043|.	B|.	0.16722|.	0.016|.	T|T	0.19224|0.19224	-1.0312|-1.0312	9|5	0.87932|.	D|.	0|.	.|.	8.4171|8.4171	0.32678|0.32678	0.0:0.7539:0.0:0.2461|0.0:0.7539:0.0:0.2461	.|.	11295|.	Q8WZ42|.	TITIN_HUMAN|.	K|K	10368|26	ENSP00000343764:E10368K|.	ENSP00000343764:E10368K|.	E|R	-|-	1|2	0|0	TTN|TTN	179245165|179245165	0.000000|0.000000	0.05858|0.05858	0.038000|0.038000	0.18304|0.18304	0.839000|0.839000	0.47603|0.47603	0.265000|0.265000	0.18515|0.18515	0.759000|0.759000	0.33084|0.33084	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	7	0	0	0	1	0	4	7				
ATP2C1	27032	broad.mit.edu	37	3	130686192	130686192	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:130686192G>A	ENST00000510168.1	+	16	1787	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	ATP2C1_ENST00000533801.2_Missense_Mutation_p.D408N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.D413N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.D358N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.D397N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.D413N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.D413N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.D447N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	413					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTGTGCAATGATGCTGTAAT	0.368									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1237-1239)Gat>Aat		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						123.0	127.0	125.0					3																	130686192		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686192G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1237G>A	3.37:g.130686192G>A	ENSP00000427461:p.Asp413Asn					ATP2C1_ENST00000508532.1_Missense_Mutation_p.D413N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.D358N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.D413N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.D397N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.D447N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.D413N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.D408N	p.D413N			P98194	AT2C1_HUMAN			16	1787	+			413					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1237G>A	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.82|10.82	1.458747|1.458747	0.26248|0.26248	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.93426|.	-3.09;-3.16;-3.1;-3.13;-3.18;-3.11;-3.11;-3.09;-3.1;-3.22;-3.11;-3.12;-3.12|.	5.59|5.59	5.59|5.59	0.84812|0.84812	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.28333|0.28333	0.0700|0.0700	N|N	0.00771|0.00771	-1.2|-1.2	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.11235|.	0.003;0.004;0.002;0.003;0.002;0.001;0.001|.	B;B;B;B;B;B;B|.	0.14578|.	0.004;0.011;0.009;0.004;0.009;0.002;0.004|.	T|T	0.37220|0.37220	-0.9715|-0.9715	10|5	0.02654|.	T|.	1|.	.|.	19.5844|19.5844	0.95485|0.95485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	447;408;447;413;447;413;413|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	N|I	397;358;397;447;408;413;413;397;397;413;413;413;413;412|366	ENSP00000423774:D397N;ENSP00000425320:D358N;ENSP00000421326:D397N;ENSP00000376914:D447N;ENSP00000432956:D408N;ENSP00000427461:D413N;ENSP00000424783:D413N;ENSP00000423330:D397N;ENSP00000422872:D397N;ENSP00000329664:D413N;ENSP00000395809:D413N;ENSP00000352665:D413N;ENSP00000402677:D413N|.	ENSP00000329664:D413N|.	D|M	+|+	1|3	0|0	ATP2C1|ATP2C1	132168882|132168882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.212000|6.212000	0.72188|0.72188	2.638000|2.638000	0.89438|0.89438	0.585000|0.585000	0.79938|0.79938	GAT|ATG		0.368	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		19	76	0	0	0	1	0	19	76				
TCHH	7062	broad.mit.edu	37	1	152080995	152080995	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152080995C>G	ENST00000368804.1	-	2	4697	c.4698G>C	c.(4696-4698)gaG>gaC	p.E1566D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1566	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCCTCTCCTGGCGCA	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4696-4698)gaG>gaC		trichohyalin							62.0	63.0	63.0					1																	152080995		1894	4106	6000	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080995C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4698G>C	1.37:g.152080995C>G	ENSP00000357794:p.Glu1566Asp						p.E1566D	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4697	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1566			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4698G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237910	0.22711	.	.	ENSG00000159450	ENST00000368804	T	0.05447	3.44	3.58	-1.65	0.08291	.	.	.	.	.	T	0.05960	0.0155	M	0.72118	2.19	0.09310	N	0.999997	D	0.67145	0.996	P	0.57152	0.814	T	0.20405	-1.0276	9	0.22109	T	0.4	-6.2556	10.5419	0.45037	0.0:0.7163:0.0:0.2837	.	1566	Q07283	TRHY_HUMAN	D	1566	ENSP00000357794:E1566D	ENSP00000357794:E1566D	E	-	3	2	TCHH	150347619	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.333000	0.02667	-0.636000	0.05524	-1.151000	0.01829	GAG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	119	0	0	0	1	0	9	119				
GPR148	344561	broad.mit.edu	37	2	131487025	131487025	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:131487025C>T	ENST00000309926.4	+	1	383	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCCTACATTCTCCTCCACAT	0.637																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(301-303)Ctc>Ttc		G protein-coupled receptor 148							71.0	76.0	74.0					2																	131487025		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487025C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.301C>T	2.37:g.131487025C>T	ENSP00000308908:p.Leu101Phe						p.L101F	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	383	+	Colorectal(110;0.1)		101					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.301C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.250732	0.22880	.	.	ENSG00000173302	ENST00000309926	T	0.42513	0.97	3.15	-6.3	0.02007	GPCR, rhodopsin-like superfamily (1);	1.143440	0.07018	N	0.826331	T	0.35537	0.0935	L	0.29908	0.895	0.09310	N	1	D	0.53462	0.96	P	0.55455	0.776	T	0.37663	-0.9696	10	0.72032	D	0.01	-0.0745	1.5735	0.02620	0.2243:0.194:0.3958:0.1859	.	101	Q8TDV2	GP148_HUMAN	F	101	ENSP00000308908:L101F	ENSP00000308908:L101F	L	+	1	0	GPR148	131203495	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.665000	0.05286	-1.833000	0.01195	0.462000	0.41574	CTC		0.637	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		14	58	0	0	0	1	0	14	58				
EIF4ENIF1	56478	broad.mit.edu	37	22	31838040	31838040	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31838040G>A	ENST00000397525.1	-	17	2494	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000330125.5_Silent_p.S757S|EIF4ENIF1_ENST00000397523.1_Silent_p.S733S|EIF4ENIF1_ENST00000382180.2_Silent_p.S412S|EIF4ENIF1_ENST00000344710.5_Silent_p.S583S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	757						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACAGTTTGGAATTTGTAG	0.468																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2269-2271)tcC>tcT		eukaryotic translation initiation factor 4E nuclear import factor 1							178.0	180.0	180.0					22																	31838040		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31838040G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2271C>T	22.37:g.31838040G>A						EIF4ENIF1_ENST00000382180.2_Silent_p.S412S|EIF4ENIF1_ENST00000344710.5_Silent_p.S583S|EIF4ENIF1_ENST00000330125.5_Silent_p.S757S|EIF4ENIF1_ENST00000397523.1_Silent_p.S733S	p.S757S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			17	2494	-			757					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.2271C>T	CCDS13898.1																																																																																				0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		13	114	0	0	0	1	0	13	114				
ABCC2	1244	broad.mit.edu	37	10	101590604	101590604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101590604G>T	ENST00000370449.4	+	21	2992	c.2879G>T	c.(2878-2880)gGa>gTa	p.G960V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	960					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATAGAAACTGGAAAGGTGAAC	0.363																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(2878-2880)gGa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						77.0	73.0	74.0					10																	101590604		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101590604G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2879G>T	10.37:g.101590604G>T	ENSP00000359478:p.Gly960Val						p.G960V	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	21	2992	+		Colorectal(252;0.234)	960					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.2879G>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651976	0.88056	.	.	ENSG00000023839	ENST00000370449	D	0.92099	-2.97	5.86	5.86	0.93980	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97697	1.0182	10	0.87932	D	0	-12.6315	20.1572	0.98116	0.0:0.0:1.0:0.0	.	960	Q92887	MRP2_HUMAN	V	960	ENSP00000359478:G960V	ENSP00000359478:G960V	G	+	2	0	ABCC2	101580594	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.833000	0.92089	2.774000	0.95407	0.491000	0.48974	GGA		0.363	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		10	40	1	0	5.50884e-06	1	5.66018e-06	10	40				
FBN2	2201	broad.mit.edu	37	5	127666307	127666307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:127666307C>T	ENST00000508053.1	-	39	5277	c.4303G>A	c.(4303-4305)Gcc>Acc	p.A1435T	FBN2_ENST00000507835.1_Missense_Mutation_p.A285T|FBN2_ENST00000262464.4_Missense_Mutation_p.A1435T|FBN2_ENST00000508989.1_Missense_Mutation_p.A1402T			P35556	FBN2_HUMAN	fibrillin 2	1435	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGAGCAGGCACAGCGGTAT	0.502																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4303-4305)Gcc>Acc		fibrillin 2							155.0	132.0	140.0					5																	127666307		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127666307C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4303G>A	5.37:g.127666307C>T	ENSP00000424571:p.Ala1435Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.A1435T|FBN2_ENST00000507835.1_Missense_Mutation_p.A285T|FBN2_ENST00000508989.1_Missense_Mutation_p.A1402T	p.A1435T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	39	5277	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1435			EGF-like 23; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4303G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741293	0.15642	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.14	3.35	0.38373	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.102433	0.43416	D	0.000561	T	0.78916	0.4359	N	0.10618	0.005	0.29525	N	0.853226	B;B	0.18166	0.026;0.0	B;B	0.21917	0.037;0.001	T	0.66650	-0.5870	10	0.13108	T	0.6	.	5.5162	0.16908	0.1503:0.6342:0.0:0.2156	.	1402;1435	D6RJI3;P35556	.;FBN2_HUMAN	T	1435;1435;285;1402	ENSP00000262464:A1435T;ENSP00000424571:A1435T;ENSP00000426839:A285T;ENSP00000425596:A1402T	ENSP00000262464:A1435T	A	-	1	0	FBN2	127694206	0.891000	0.30450	0.999000	0.59377	0.989000	0.77384	1.070000	0.30653	1.535000	0.49220	0.591000	0.81541	GCC		0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		15	53	0	0	0	1	0	15	53				
BRD7	29117	broad.mit.edu	37	16	50383954	50383954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:50383954G>A	ENST00000394688.3	-	5	730	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Nonsense_Mutation_p.Q191*|snoU13_ENST00000459559.1_RNA			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	191	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCTATGGACTGATAGTCATTG	0.343																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(571-573)Cag>Tag		bromodomain containing 7							181.0	176.0	177.0					16																	50383954		2198	4299	6497	SO:0001587	stop_gained	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50383954G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.571C>T	16.37:g.50383954G>A	ENSP00000378180:p.Gln191*					BRD7_ENST00000394689.2_Nonsense_Mutation_p.Q191*|BRD7_ENST00000401491.3_5'UTR	p.Q191*			Q9NPI1	BRD7_HUMAN			5	730	-		all_cancers(37;0.0127)	191			Bromo.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	ENST00000394688.3	37	c.571C>T	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788586	0.90367	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	.	.	.	5.76	4.77	0.60923	.	0.106857	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-5.6975	16.227	0.82300	0.0:0.0:0.8667:0.1333	.	.	.	.	X	191	.	ENSP00000378180:Q191X	Q	-	1	0	BRD7	48941455	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.604000	0.74150	2.725000	0.93324	0.591000	0.81541	CAG		0.343	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		5	66	0	0	0	1	0	5	66				
EIF4G2	1982	broad.mit.edu	37	11	10820941	10820941	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:10820941G>T	ENST00000526148.1	-	20	2865	c.2355C>A	c.(2353-2355)aaC>aaA	p.N785K	EIF4G2_ENST00000525681.1_Missense_Mutation_p.N785K|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.N785K|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.N747K	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGCTGGGGGGGTTTACTTCAC	0.418																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2353-2355)aaC>aaA		eukaryotic translation initiation factor 4 gamma, 2							68.0	67.0	67.0					11																	10820941		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820941G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2355C>A	11.37:g.10820941G>T	ENSP00000433664:p.Asn785Lys					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.N747K|EIF4G2_ENST00000525681.1_Missense_Mutation_p.N785K|EIF4G2_ENST00000339995.5_Missense_Mutation_p.N785K	p.N785K	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2865	-			785			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2355C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956063	0.53293	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	6.07	5.16	0.70880	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.332676	0.39985	N	0.001208	T	0.19805	0.0476	L	0.48642	1.525	0.32549	N	0.5326759999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07028	-1.0794	9	0.56958	D	0.05	-2.0583	17.4549	0.87604	0.0:0.1243:0.8757:0.0	.	785;858	P78344;B4DZF2	IF4G2_HUMAN;.	K	785;785;785;747;858;133;167	ENSP00000433664:N785K;ENSP00000433371:N785K;ENSP00000340281:N785K;ENSP00000379778:N747K	ENSP00000340281:N785K	N	-	3	2	EIF4G2	10777517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.417000	0.59822	1.559000	0.49555	-0.176000	0.13171	AAC		0.418	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		11	42	1	0	4.3838e-07	1	4.52912e-07	11	42				
GFRA2	2675	broad.mit.edu	37	8	21608407	21608407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:21608407C>T	ENST00000524240.1	-	4	1137	c.487G>A	c.(487-489)Gat>Aat	p.D163N	GFRA2_ENST00000400782.4_Missense_Mutation_p.D58N|GFRA2_ENST00000518077.1_Missense_Mutation_p.D30N|GFRA2_ENST00000517328.1_Missense_Mutation_p.D163N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	163					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTGGCAGCATCCAGGCAATGG	0.597																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(487-489)Gat>Aat		GDNF family receptor alpha 2							30.0	34.0	32.0					8																	21608407		2195	4294	6489	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608407C>T	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.487G>A	8.37:g.21608407C>T	ENSP00000428518:p.Asp163Asn					GFRA2_ENST00000518077.1_Missense_Mutation_p.D30N|GFRA2_ENST00000400782.4_Missense_Mutation_p.D58N|GFRA2_ENST00000517328.1_Missense_Mutation_p.D163N	p.D163N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1137	-			163					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.487G>A	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945029	0.73672	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.76	4.76	0.60689	GDNF/GAS1 (2);	0.048664	0.85682	D	0.000000	T	0.74726	0.3754	L	0.53617	1.68	0.53688	D	0.999972	D;D;D	0.71674	0.996;0.986;0.998	D;P;D	0.71656	0.94;0.852;0.974	T	0.75202	-0.3401	10	0.44086	T	0.13	-14.2427	17.3714	0.87379	0.0:1.0:0.0:0.0	.	30;58;163	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	N	163;58;163;30;58;163;155	ENSP00000428518:D163N;ENSP00000383592:D58N;ENSP00000429445:D163N;ENSP00000429206:D30N;ENSP00000429979:D58N;ENSP00000428721:D163N	ENSP00000383592:D58N	D	-	1	0	GFRA2	21652687	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	4.672000	0.61597	2.197000	0.70478	0.313000	0.20887	GAT		0.597	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		12	30	0	0	0	1	0	12	30				
CCDC81	60494	broad.mit.edu	37	11	86108780	86108780	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86108780C>T	ENST00000445632.2	+	6	1025	c.753C>T	c.(751-753)acC>acT	p.T251T	CCDC81_ENST00000278487.3_Silent_p.T34T|CCDC81_ENST00000528728.1_Silent_p.T34T|CCDC81_ENST00000354755.1_Silent_p.T161T	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	251										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AAGAAGGCACCAGAGGTAGGC	0.413																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(100-102)acC>acT		coiled-coil domain containing 81							98.0	95.0	96.0					11																	86108780		2202	4299	6501	SO:0001819	synonymous_variant	60494							g.chr11:86108780C>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.753C>T	11.37:g.86108780C>T						CCDC81_ENST00000445632.2_Silent_p.T251T|CCDC81_ENST00000354755.1_Silent_p.T161T|CCDC81_ENST00000528728.1_Silent_p.T34T	p.T34T			Q6ZN84	CCD81_HUMAN			6	1181	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	251					A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	c.102C>T	CCDS53691.1																																																																																				0.413	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		6	42	0	0	0	1	0	6	42				
PLXNC1	10154	broad.mit.edu	37	12	94603376	94603376	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:94603376C>G	ENST00000258526.4	+	5	1699	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	484					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTGCACTTTTCAAGGAGATTG	0.383																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1450-1452)Caa>Gaa		plexin C1							186.0	191.0	189.0					12																	94603376		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603376C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1450C>G	12.37:g.94603376C>G	ENSP00000258526:p.Gln484Glu						p.Q484E	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			5	1699	+			484					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1450C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613161	0.28712	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.16897	2.31;2.31	5.79	2.67	0.31697	.	0.437974	0.24601	N	0.037139	T	0.14700	0.0355	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.04565	-1.0942	10	0.48119	T	0.1	.	11.5308	0.50610	0.6122:0.3878:0.0:0.0	.	484	O60486	PLXC1_HUMAN	E	484;100	ENSP00000258526:Q484E;ENSP00000447843:Q100E	ENSP00000258526:Q484E	Q	+	1	0	PLXNC1	93127507	1.000000	0.71417	0.999000	0.59377	0.480000	0.33159	0.729000	0.26028	0.219000	0.20840	0.655000	0.94253	CAA		0.383	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			32	146	0	0	0	1	0	32	146				
MYO10	4651	broad.mit.edu	37	5	16701587	16701587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:16701587C>T	ENST00000513610.1	-	25	3371	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.E330K|MYO10_ENST00000505695.1_Missense_Mutation_p.E312K|MYO10_ENST00000427430.2_Missense_Mutation_p.E330K|MYO10_ENST00000515803.1_Missense_Mutation_p.E312K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	973					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATGCGCTCTCAGCCAGCTCG	0.587																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2917-2919)Gag>Aag		myosin X							36.0	40.0	38.0					5																	16701587		2116	4240	6356	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701587C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2917G>A	5.37:g.16701587C>T	ENSP00000421280:p.Glu973Lys					MYO10_ENST00000274203.9_Missense_Mutation_p.E330K|MYO10_ENST00000515803.1_Missense_Mutation_p.E312K|MYO10_ENST00000427430.2_Missense_Mutation_p.E330K|MYO10_ENST00000505695.1_Missense_Mutation_p.E312K	p.E973K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3371	-			973					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2917G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	1.718	-0.497379	0.04291	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;T;T;T;T	0.86956	-2.19;2.01;2.01;2.01;2.01	4.66	3.56	0.40772	.	.	.	.	.	T	0.75079	0.3801	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.12156	0.007;0.004	T	0.53585	-0.8418	9	0.08179	T	0.78	.	13.6238	0.62153	0.0:0.9104:0.0:0.0896	.	614;973	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	973;312;330;312;330	ENSP00000421280:E973K;ENSP00000425051:E312K;ENSP00000274203:E330K;ENSP00000421170:E312K;ENSP00000391106:E330K	ENSP00000274203:E330K	E	-	1	0	MYO10	16754587	0.010000	0.17322	0.057000	0.19452	0.028000	0.11728	2.470000	0.45119	2.133000	0.65898	0.563000	0.77884	GAG		0.587	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	46	0	0	0	1	0	11	46				
SVEP1	79987	broad.mit.edu	37	9	113265335	113265335	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113265335G>T	ENST00000401783.2	-	6	1802	c.1466C>A	c.(1465-1467)cCa>cAa	p.P489Q	SVEP1_ENST00000302728.8_Missense_Mutation_p.P489Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P466Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P466Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	489	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGGGGTTCTGGCCCATCCCA	0.438																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1465-1467)cCa>cAa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							142.0	144.0	143.0					9																	113265335		1933	4141	6074	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265335G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1466C>A	9.37:g.113265335G>T	ENSP00000384917:p.Pro489Gln					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P489Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.P466Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P466Q	p.P489Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			6	1802	-			489			Sushi 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1466C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	4.469	0.086948	0.08583	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.52	-0.78	0.10969	Complement control module (2);Sushi/SCR/CCP (3);	0.834412	0.10683	N	0.646196	T	0.47377	0.1442	L	0.41961	1.31	0.09310	N	1	B;B;B	0.32010	0.351;0.175;0.145	B;B;B	0.30855	0.121;0.108;0.101	T	0.28138	-1.0053	10	0.13470	T	0.59	.	2.0572	0.03583	0.2794:0.0978:0.4244:0.1985	.	489;489;489	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Q	489;466;489;466	ENSP00000384917:P489Q;ENSP00000363593:P466Q;ENSP00000304118:P489Q;ENSP00000363585:P466Q	ENSP00000304118:P489Q	P	-	2	0	SVEP1	112305156	0.646000	0.27295	0.010000	0.14722	0.805000	0.45488	1.118000	0.31246	-0.045000	0.13468	0.655000	0.94253	CCA		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	50	1	0	2.94398e-08	1	3.05508e-08	17	50				
GPR39	2863	broad.mit.edu	37	2	133402678	133402678	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:133402678G>A	ENST00000329321.3	+	2	1330	c.861G>A	c.(859-861)ctG>ctA	p.L287L	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	287					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCAGGGCTGATTGTTGTGA	0.502																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(859-861)ctG>ctA		G protein-coupled receptor 39							73.0	67.0	69.0					2																	133402678		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402678G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.861G>A	2.37:g.133402678G>A						LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.L287L	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1330	+			287					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.861G>A	CCDS2170.1																																																																																				0.502	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			11	49	0	0	0	1	0	11	49				
CASS4	57091	broad.mit.edu	37	20	55020994	55020994	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:55020994G>A	ENST00000360314.3	+	4	723	c.498G>A	c.(496-498)ctG>ctA	p.L166L	CASS4_ENST00000371336.3_Silent_p.L166L|CASS4_ENST00000434344.1_Silent_p.L166L	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	166					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGCCTCACTGCCGACTCTGC	0.582																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(496-498)ctG>ctA		Cas scaffolding protein family member 4							111.0	95.0	100.0					20																	55020994		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55020994G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.498G>A	20.37:g.55020994G>A						CASS4_ENST00000434344.1_Silent_p.L166L|CASS4_ENST00000360314.3_Silent_p.L166L	p.L166L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			3	699	+			166					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.498G>A	CCDS33492.1																																																																																				0.582	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		7	59	0	0	0	1	0	7	59				
HUWE1	10075	broad.mit.edu	37	X	53570870	53570870	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11311-11313)Gag>Aag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							63.0	39.0	47.0					X																	53570870		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53570870C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11311G>A	X.37:g.53570870C>T	ENSP00000340648:p.Glu3771Lys					HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K	p.E3771K			Q7Z6Z7	HUWE1_HUMAN			72	11768	-			3771					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11311G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.322571	0.41096	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.41400	1.0;1.0	5.08	4.21	0.49690	.	0.222766	0.36893	N	0.002349	T	0.56352	0.1979	L	0.53249	1.67	0.58432	D	0.999998	P;P;D	0.56035	0.791;0.956;0.974	B;P;D	0.67725	0.262;0.899;0.953	T	0.52419	-0.8578	10	0.35671	T	0.21	.	13.2232	0.59901	0.1603:0.8397:0.0:0.0	.	608;3771;3755	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	K	3771	ENSP00000340648:E3771K;ENSP00000262854:E3771K	ENSP00000262854:E3771K	E	-	1	0	HUWE1	53587595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.939000	0.75911	0.937000	0.37394	0.534000	0.68092	GAG		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	13	0	0	0	1	0	7	13				
LRP1	4035	broad.mit.edu	37	12	57537482	57537482	+	Missense_Mutation	SNP	C	C	G	rs201097198		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:57537482C>G	ENST00000243077.3	+	4	815	c.349C>G	c.(349-351)Cgc>Ggc	p.R117G	LRP1_ENST00000338962.4_Missense_Mutation_p.R117G|LRP1_ENST00000553277.1_Missense_Mutation_p.R117G|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Missense_Mutation_p.R117G|RP11-545N8.3_ENST00000554476.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	117	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTGCTCTCGCCTGGGCTG	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16721	0.0		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(349-351)Cgc>Ggc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						83.0	66.0	72.0					12																	57537482		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57537482C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.349C>G	12.37:g.57537482C>G	ENSP00000243077:p.Arg117Gly					LRP1_ENST00000554174.1_Missense_Mutation_p.R117G|LRP1_ENST00000553277.1_Missense_Mutation_p.R117G|LRP1_ENST00000338962.4_Missense_Mutation_p.R117G	p.R117G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	4	815	+			117			EGF-like 1.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.349C>G	CCDS8932.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.796	1.179298	0.21787	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.97328	-2.61;-4.34;-2.56;-2.64	4.81	3.86	0.44501	Epidermal growth factor-like (1);	0.747207	0.11989	N	0.510057	D	0.90752	0.7097	N	0.10837	0.055	0.09310	N	1	B;B;B;B	0.16166	0.009;0.001;0.011;0.016	B;B;B;B	0.17722	0.012;0.004;0.016;0.019	T	0.80670	-0.1279	10	0.21540	T	0.41	.	7.7623	0.28959	0.1808:0.6446:0.1746:0.0	.	117;117;117;117	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	G	117	ENSP00000451449:R117G;ENSP00000243077:R117G;ENSP00000341264:R117G;ENSP00000451737:R117G	ENSP00000243077:R117G	R	+	1	0	LRP1	55823749	0.003000	0.15002	0.962000	0.40283	0.607000	0.37147	1.233000	0.32648	2.677000	0.91161	0.655000	0.94253	CGC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	87	0	0	0	1	0	12	87				
CYTH1	9267	broad.mit.edu	37	17	76688531	76688531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76688531C>T	ENST00000446868.3	-	11	929	c.859G>A	c.(859-861)Gac>Aac	p.D287N	CYTH1_ENST00000591455.1_Missense_Mutation_p.D286N|CYTH1_ENST00000589297.1_Missense_Mutation_p.D228N|CYTH1_ENST00000361101.4_Missense_Mutation_p.D287N|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.D228N			Q15438	CYH1_HUMAN	cytohesin 1	287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGCAGTTGTCAGTCAGAATG	0.517																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(682-684)Gac>Aac		cytohesin 1							205.0	189.0	195.0					17																	76688531		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76688531C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.859G>A	17.37:g.76688531C>T	ENSP00000389095:p.Asp287Asn					CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.D287N|CYTH1_ENST00000446868.3_Missense_Mutation_p.D287N|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.D228N|CYTH1_ENST00000591455.1_Missense_Mutation_p.D286N	p.D228N			Q15438	CYH1_HUMAN			11	1374	-			287					A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.682G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.126627	0.94429	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.75938	-0.98;-0.98	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.52759	1.655	0.80722	D	1	P	0.42518	0.782	P	0.47044	0.535	T	0.77544	-0.2548	10	0.48119	T	0.1	.	18.5059	0.90897	0.0:1.0:0.0:0.0	.	286	Q15438-2	.	N	287;287;228;228;286;124	ENSP00000389095:D287N;ENSP00000354398:D287N	ENSP00000262763:D286N	D	-	1	0	CYTH1	74200126	1.000000	0.71417	0.960000	0.40013	0.972000	0.66771	7.500000	0.81588	2.654000	0.90174	0.655000	0.94253	GAC		0.517	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		39	155	0	0	0	1	0	39	155				
FSIP2	401024	broad.mit.edu	37	2	186678741	186678741	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:186678741C>G	ENST00000424728.1	+	18	20297	c.20297C>G	c.(20296-20298)tCa>tGa	p.S6766*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.S6855*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6766										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGCCTCTTCATCTTGGGAG	0.448																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(20563-20565)tCa>tGa		fibrous sheath interacting protein 2							56.0	53.0	54.0					2																	186678741		1972	4140	6112	SO:0001587	stop_gained	401024							g.chr2:186678741C>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20297C>G	2.37:g.186678741C>G	ENSP00000401306:p.Ser6766*					FSIP2_ENST00000424728.1_Nonsense_Mutation_p.S6766*	p.S6855*	NM_173651.2	NP_775922.2					18	20564	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	ENST00000424728.1	37	c.20564C>G		.	.	.	.	.	.	.	.	.	.	C	58	30.469683	0.99977	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.7	2.89	0.33648	.	0.733633	0.12383	N	0.473698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	6.4335	0.21811	0.0:0.7877:0.0:0.2123	.	.	.	.	X	6855;6766	.	ENSP00000344403:S6855X	S	+	2	0	FSIP2	186386986	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	0.305000	0.19254	1.345000	0.45676	0.655000	0.94253	TCA		0.448	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		13	61	0	0	0	1	0	13	61				
TLN1	7094	broad.mit.edu	37	9	35706339	35706339	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:35706339C>G	ENST00000314888.9	-	40	5568	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E1723Q|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1739	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGAGCGGCTCAAAGTACTGC	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5215-5217)Gag>Cag		talin 1							72.0	76.0	75.0					9																	35706339		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706339C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5215G>C	9.37:g.35706339C>G	ENSP00000316029:p.Glu1739Gln					TLN1_ENST00000540444.1_Missense_Mutation_p.E1723Q|TLN1_ENST00000464379.1_Intron	p.E1739Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		40	5568	-	all_epithelial(49;0.167)		1739			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5215G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330749	0.60853	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13307	2.6;2.6	5.38	5.38	0.77491	.	0.127468	0.64402	D	0.000020	T	0.19725	0.0474	M	0.65498	2.005	0.80722	D	1	B	0.31193	0.312	B	0.29524	0.103	T	0.01767	-1.1278	10	0.39692	T	0.17	-26.6827	18.736	0.91755	0.0:1.0:0.0:0.0	.	1739	Q9Y490	TLN1_HUMAN	Q	1739;1723	ENSP00000316029:E1739Q;ENSP00000442981:E1723Q	ENSP00000316029:E1739Q	E	-	1	0	TLN1	35696339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.512000	0.84698	0.555000	0.69702	GAG		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		25	105	0	0	0	1	0	25	105				
CCDC42	146849	broad.mit.edu	37	17	8638800	8638800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:8638800C>T	ENST00000293845.3	-	5	848	c.622G>A	c.(622-624)Gag>Aag	p.E208K	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	208										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTTTTCCTCCATGTAGCGC	0.592																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(622-624)Gag>Aag		coiled-coil domain containing 42							64.0	59.0	61.0					17																	8638800		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638800C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.622G>A	17.37:g.8638800C>T	ENSP00000293845:p.Glu208Lys					CCDC42_ENST00000539522.2_Intron	p.E208K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			5	848	-			208	Missing (in Ref. 2; AAH29224).				Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.622G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237707	0.79800	.	.	ENSG00000161973	ENST00000293845	T	0.22539	1.95	5.41	5.41	0.78517	.	0.100830	0.43747	D	0.000522	T	0.40423	0.1116	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.01468	-1.1347	10	0.23891	T	0.37	-43.6493	18.1344	0.89614	0.0:1.0:0.0:0.0	.	208	Q96M95	CCD42_HUMAN	K	208	ENSP00000293845:E208K	ENSP00000293845:E208K	E	-	1	0	CCDC42	8579525	0.914000	0.31030	1.000000	0.80357	0.804000	0.45430	2.105000	0.41825	2.822000	0.97130	0.557000	0.71058	GAG		0.592	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		7	52	0	0	0	1	0	7	52				
PRUNE2	158471	broad.mit.edu	37	9	79441526	79441526	+	Missense_Mutation	SNP	C	C	A	rs139637420		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:79441526C>A	ENST00000376718.3	-	5	754	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.V211F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	211					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTGTAGGACGTTGATGATG	0.493																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(631-633)Gtc>Ttc		prune homolog 2 (Drosophila)							146.0	133.0	138.0					9																	79441526		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79441526C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.631G>T	9.37:g.79441526C>A	ENSP00000365908:p.Val211Phe					PRUNE2_ENST00000376713.3_Missense_Mutation_p.V211F|PRUNE2_ENST00000428286.1_5'UTR	p.V211F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			5	754	-			211					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.631G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705288	0.48412	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.14022	2.54;2.54	5.67	-1.05	0.10036	.	0.771688	0.12428	N	0.469826	T	0.20210	0.0486	L	0.39898	1.24	0.19300	N	0.999979	D;P	0.63880	0.993;0.81	D;B	0.64776	0.929;0.367	T	0.11567	-1.0582	10	0.59425	D	0.04	.	5.4598	0.16610	0.0:0.4593:0.1327:0.408	.	211;211	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	F	211;210;211	ENSP00000365908:V211F;ENSP00000365903:V211F	ENSP00000365903:V211F	V	-	1	0	PRUNE2	78631346	0.000000	0.05858	0.004000	0.12327	0.709000	0.40893	-0.522000	0.06237	-0.226000	0.09899	-0.253000	0.11424	GTC		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		33	152	1	0	3.03874e-20	1	3.23602e-20	33	152				
ATP8B4	79895	broad.mit.edu	37	15	50215688	50215688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50215688C>T	ENST00000284509.6	-	17	1787	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R549Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	549						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGGGTTTCGAACTGAAAA	0.378																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1645-1647)cGa>cAa		ATPase, class I, type 8B, member 4							49.0	48.0	49.0					15																	50215688		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50215688C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1646G>A	15.37:g.50215688C>T	ENSP00000284509:p.Arg549Gln					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R549Q	p.R549Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	17	1787	-		all_lung(180;0.00183)	549					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1646G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725539	0.68959	.	.	ENSG00000104043	ENST00000284509	D	0.82803	-1.65	4.93	0.368	0.16146	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.243076	0.32314	N	0.006270	T	0.78451	0.4285	M	0.67517	2.055	0.34306	D	0.684884	P	0.42785	0.79	B	0.40066	0.318	T	0.80034	-0.1551	10	0.59425	D	0.04	.	9.0797	0.36545	0.0:0.606:0.0:0.394	.	549	Q8TF62	AT8B4_HUMAN	Q	549	ENSP00000284509:R549Q	ENSP00000284509:R549Q	R	-	2	0	ATP8B4	48002980	0.100000	0.21855	0.999000	0.59377	0.868000	0.49771	0.662000	0.25038	0.107000	0.17824	-0.751000	0.03497	CGA		0.378	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		13	33	0	0	0	1	0	13	33				
GFAP	2670	broad.mit.edu	37	17	42987581	42987581	+	Intron	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:42987581G>C	ENST00000253408.5	-	7	1237				GFAP_ENST00000435360.2_Missense_Mutation_p.L407V|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGGCTTTTGAGATATCTTGTG	0.483																																						ENST00000435360.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1219-1221)Ctc>Gtc		glial fibrillary acidic protein							339.0	292.0	306.0					17																	42987581		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987581G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+401C>G	17.37:g.42987581G>C						GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	p.L407V	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN			8	1226	-		Prostate(33;0.0959)	405			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1219C>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809374	0.50421	.	.	ENSG00000131095	ENST00000435360	D	0.83591	-1.74	4.78	4.78	0.61160	.	.	.	.	.	D	0.82655	0.5084	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.83479	0.0063	9	0.54805	T	0.06	.	13.6287	0.62183	0.0:0.0:1.0:0.0	.	407	E9PAX3	.	V	407	ENSP00000403962:L407V	ENSP00000403962:L407V	L	-	1	0	GFAP	40343107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.781000	0.55394	2.937000	0.99478	0.650000	0.86243	CTC		0.483	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		29	151	0	0	0	1	0	29	151				
CTDSP1	58190	broad.mit.edu	37	2	219267126	219267126	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219267126C>G	ENST00000273062.2	+	4	712	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	CTDSP1_ENST00000443891.1_Missense_Mutation_p.Q125E|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	126	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTCCACCAGGTGAGGGC	0.607																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(376-378)Cag>Gag		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1							75.0	72.0	73.0					2																	219267126		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219267126C>G	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.376C>G	2.37:g.219267126C>G	ENSP00000273062:p.Gln126Glu					CTDSP1_ENST00000443891.1_Missense_Mutation_p.Q125E|CTDSP1_ENST00000488627.1_3'UTR	p.Q126E	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	712	+		Renal(207;0.0915)	126			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.376C>G	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702417	0.68501	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.16597	2.33;2.33	4.68	4.68	0.58851	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.58428	1.81	0.80722	D	1	D;D	0.56746	0.977;0.977	P;D	0.64687	0.889;0.928	T	0.07366	-1.0776	10	0.51188	T	0.08	-22.9154	15.3724	0.74577	0.0:1.0:0.0:0.0	.	126;125	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	E	125;126	ENSP00000392248:Q125E;ENSP00000273062:Q126E	ENSP00000273062:Q126E	Q	+	1	0	CTDSP1	218975370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.620000	0.67736	2.114000	0.64651	0.561000	0.74099	CAG		0.607	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		6	86	0	0	0	1	0	6	86				
BRCA1	672	broad.mit.edu	37	17	41251814	41251814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41251814C>G	ENST00000357654.3	-	7	643	c.525G>C	c.(523-525)aaG>aaC	p.K175N	BRCA1_ENST00000491747.2_Missense_Mutation_p.K175N|BRCA1_ENST00000468300.1_Missense_Mutation_p.K175N|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.K175N|BRCA1_ENST00000354071.3_Missense_Mutation_p.K175N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.K175N|BRCA1_ENST00000493795.1_Missense_Mutation_p.K128N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.K175N|BRCA1_ENST00000352993.3_Missense_Mutation_p.K175N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	175					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K175N(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGACAGACGTCTTTTGAGGTT	0.383			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		1	Substitution - Missense(1)	p.K175N(1)	lung(1)	NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(523-525)aaG>aaC	Homologous recombination	breast cancer 1, early onset							164.0	157.0	159.0					17																	41251814		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41251814C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.525G>C	17.37:g.41251814C>G	ENSP00000350283:p.Lys175Asn	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.K128N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.K175N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.K175N|BRCA1_ENST00000354071.3_Missense_Mutation_p.K175N|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000352993.3_Missense_Mutation_p.K175N|BRCA1_ENST00000468300.1_Missense_Mutation_p.K175N|BRCA1_ENST00000351666.3_Missense_Mutation_p.K175N|BRCA1_ENST00000346315.3_Missense_Mutation_p.K175N	p.K175N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	643	-		Breast(137;0.000717)	175					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.525G>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.130|0.130	-1.114187|-1.114187	0.01799|0.01799	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777|ENST00000473961	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96587|.	-2.06;-2.19;-2.15;-2.18;-2.32;-2.02;-2.44;-2.06;-2.18;-1.9;-1.68;-2.08;-1.57;-2.66;-4.06;-2.34;-1.96|.	5.16|5.16	-3.44|-3.44	0.04796|0.04796	.|.	0.670334|.	0.14402|.	N|.	0.321858|.	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.00368|0.00368	-1.59|-1.59	0.36150|0.36150	D|D	0.84741|0.84741	B;B;B;B;B;B;B;B;B;B;B|.	0.18013|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.025;0.0;0.0;0.0|.	B;B;B;B;B;B;B;B;B;B;B|.	0.15052|.	0.001;0.001;0.001;0.0;0.0;0.0;0.002;0.012;0.001;0.0;0.0|.	T|T	0.31110|0.31110	-0.9955|-0.9955	10|5	0.06365|.	T|.	0.9|.	.|.	1.5722|1.5722	0.02617|0.02617	0.274:0.2683:0.0792:0.3785|0.274:0.2683:0.0792:0.3785	.|.	174;128;174;175;175;175;175;175;175;175;175|.	E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.|.	N|T	175;175;175;175;175;175;175;128;175;128;174;174;90;128;91;175;149;175;174|82	ENSP00000350283:K175N;ENSP00000326002:K175N;ENSP00000312236:K175N;ENSP00000246907:K175N;ENSP00000338007:K175N;ENSP00000417148:K175N;ENSP00000377294:K128N;ENSP00000418960:K175N;ENSP00000418775:K128N;ENSP00000420412:K174N;ENSP00000419481:K90N;ENSP00000418819:K128N;ENSP00000418212:K91N;ENSP00000419274:K175N;ENSP00000419988:K149N;ENSP00000419103:K175N;ENSP00000417554:K174N|.	ENSP00000246907:K175N|.	K|R	-|-	3|2	2|0	BRCA1|BRCA1	38505340|38505340	0.870000|0.870000	0.30015|0.30015	0.158000|0.158000	0.22627|0.22627	0.420000|0.420000	0.31355|0.31355	-0.318000|-0.318000	0.08050|0.08050	-0.765000|-0.765000	0.04645|0.04645	-0.362000|-0.362000	0.07510|0.07510	AAG|AGA		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		13	79	0	0	0	1	0	13	79				
MICAL2	9645	broad.mit.edu	37	11	12229683	12229683	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:12229683C>G	ENST00000256194.4	+	5	874	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	MICAL2_ENST00000537344.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000379612.3_Missense_Mutation_p.Q196E|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q196E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	196	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAAGAAAATCAAAGTACAGT	0.403																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(586-588)Caa>Gaa		microtubule associated monooxygenase, calponin and LIM domain containing 2							120.0	117.0	118.0					11																	12229683		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12229683C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.586C>G	11.37:g.12229683C>G	ENSP00000256194:p.Gln196Glu					MICAL2_ENST00000379612.3_Missense_Mutation_p.Q196E|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000537344.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q196E|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q196E	p.Q196E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	5	874	+			196					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.586C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	5.888	0.347953	0.11126	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	5.64	4.72	0.59763	.	0.404378	0.27622	N	0.018555	T	0.81361	0.4806	N	0.01048	-1.04	0.42764	D	0.993811	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.0;0.001	T	0.78473	-0.2190	10	0.02654	T	1	.	15.8506	0.78927	0.1366:0.8634:0.0:0.0	.	196;196;196;196;196;196	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	E	196	ENSP00000441689:Q196E;ENSP00000256194:Q196E;ENSP00000433965:Q196E;ENSP00000344894:Q196E;ENSP00000368932:Q196E	ENSP00000256194:Q196E	Q	+	1	0	MICAL2	12186259	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.039000	0.57325	1.611000	0.50210	0.650000	0.86243	CAA		0.403	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		16	53	0	0	0	1	0	16	53				
SLC5A3	6526	broad.mit.edu	37	21	35469623	35469623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:35469623G>C	ENST00000381151.3	+	2	2638	c.2126G>C	c.(2125-2127)gGa>gCa	p.G709A	SLC5A3_ENST00000608209.1_Missense_Mutation_p.G709A|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	709					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGTTCACTTGGAATTTTCATG	0.358																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2125-2127)gGa>gCa		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							65.0	76.0	72.0					21																	35469623		2196	4299	6495	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35469623G>C		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.2126G>C	21.37:g.35469623G>C	ENSP00000370543:p.Gly709Ala					MRPS6_ENST00000399312.2_Intron	p.G709A	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	2638	+			709					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.2126G>C	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694741	0.15039	.	.	ENSG00000198743	ENST00000381151	D	0.86865	-2.18	6.05	6.05	0.98169	.	0.123221	0.52532	D	0.000061	T	0.78941	0.4363	N	0.24115	0.695	0.44899	D	0.997912	B	0.21452	0.056	B	0.19148	0.024	T	0.73335	-0.4015	10	0.02654	T	1	.	20.1981	0.98245	0.0:0.0:1.0:0.0	.	709	P53794	SC5A3_HUMAN	A	709	ENSP00000370543:G709A	ENSP00000370543:G709A	G	+	2	0	SLC5A3	34391493	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.247000	0.72411	2.881000	0.98747	0.637000	0.83480	GGA		0.358	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			9	50	0	0	0	1	0	9	50				
COPS2	9318	broad.mit.edu	37	15	49447763	49447763	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:49447763C>G	ENST00000388901.5	-	1	86	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	COPS2_ENST00000542928.1_Missense_Mutation_p.E5Q|COPS2_ENST00000299259.6_Missense_Mutation_p.E5Q|GALK2_ENST00000327171.3_5'Flank	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	5					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AAATCATCCTCCATGTCAGAC	0.572																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(13-15)Gag>Cag		COP9 signalosome subunit 2							132.0	123.0	126.0					15																	49447763		2196	4295	6491	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49447763C>G	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.13G>C	15.37:g.49447763C>G	ENSP00000373553:p.Glu5Gln					COPS2_ENST00000542928.1_Missense_Mutation_p.E5Q|COPS2_ENST00000299259.6_Missense_Mutation_p.E5Q	p.E5Q	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	1	86	-		all_lung(180;0.0428)	5					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.13G>C	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063517	0.76187	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.73217	2.22	0.29138	N	0.879197	P;P;P	0.39094	0.659;0.659;0.659	B;B;B	0.42959	0.403;0.403;0.403	T	0.64390	-0.6419	9	0.72032	D	0.01	-3.0912	18.553	0.91072	0.0:1.0:0.0:0.0	.	5;6;5	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	Q	5	.	ENSP00000299259:E5Q	E	-	1	0	COPS2	47235055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.266000	0.72540	2.603000	0.88011	0.655000	0.94253	GAG		0.572	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		6	50	0	0	0	1	0	6	50				
MAP2K7	5609	broad.mit.edu	37	19	7975351	7975351	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975351C>G	ENST00000397979.3	+	5	515	c.461C>G	c.(460-462)tCc>tGc	p.S154C	MAP2K7_ENST00000397981.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000545011.1_Missense_Mutation_p.S196C|MAP2K7_ENST00000397983.3_Missense_Mutation_p.S170C|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ATGCGGCGCTCCGGGAACAAG	0.637																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(586-588)tCc>tGc		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						35.0	37.0	36.0					19																	7975351		2119	4232	6351	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975351C>G	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.461C>G	19.37:g.7975351C>G	ENSP00000381066:p.Ser154Cys					MAP2K7_ENST00000397981.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000397979.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000397983.3_Missense_Mutation_p.S170C	p.S196C			O14733	MP2K7_HUMAN			5	652	+			154			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.587C>G	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713815	0.89112	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062147	0.64402	D	0.000004	T	0.72244	0.3436	L	0.28649	0.875	0.51482	D	0.999925	D;D	0.71674	0.996;0.998	P;D	0.67900	0.896;0.954	T	0.76055	-0.3099	10	0.87932	D	0	-3.4917	15.9151	0.79508	0.0:1.0:0.0:0.0	.	154;154	O14733-4;O14733	.;MP2K7_HUMAN	C	154;170;196;170;154	ENSP00000381068:S154C;ENSP00000381070:S170C;ENSP00000443946:S196C;ENSP00000381066:S154C	ENSP00000381066:S154C	S	+	2	0	MAP2K7	7881351	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	5.568000	0.67385	2.438000	0.82558	0.555000	0.69702	TCC		0.637	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			5	14	0	0	0	1	0	5	14				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	31	0	0	0	1	0	4	31				
SMAP1	60682	broad.mit.edu	37	6	71570016	71570016	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:71570016C>G	ENST00000370455.3	+	11	1631	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Silent_p.L434L|SMAP1_ENST00000370452.3_3'UTR	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	461					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GTCAGACTCTCAGCACACAAC	0.483																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(1381-1383)ctC>ctG		small ArfGAP 1							111.0	101.0	105.0					6																	71570016		2203	4300	6503	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71570016C>G	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.1383C>G	6.37:g.71570016C>G						SMAP1_ENST00000316999.5_Silent_p.L434L|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_3'UTR	p.L461L	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			11	1631	+			461					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.1383C>G	CCDS43478.1																																																																																				0.483	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		17	75	0	0	0	1	0	17	75				
CREB3L3	84699	broad.mit.edu	37	19	4157082	4157082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4157082G>A	ENST00000078445.2	+	3	394	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CREB3L3_ENST00000602147.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E82K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E73K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	83					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTCCCCCGAAGGCAGTGA	0.672																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(247-249)Gaa>Aaa		cAMP responsive element binding protein 3-like 3							70.0	58.0	62.0					19																	4157082		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4157082G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.247G>A	19.37:g.4157082G>A	ENSP00000078445:p.Glu83Lys					CREB3L3_ENST00000595923.1_Missense_Mutation_p.E82K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E73K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E83K	p.E83K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	3	394	+			83					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.247G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030265	0.19512	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.76186	-1.0;-1.0	5.27	4.2	0.49525	.	0.419306	0.25636	N	0.029312	T	0.53222	0.1783	N	0.22421	0.69	0.09310	N	1	B;B;P;B	0.34629	0.249;0.33;0.46;0.33	B;B;B;B	0.23852	0.034;0.022;0.049;0.022	T	0.37033	-0.9723	10	0.12766	T	0.61	-20.407	11.0549	0.47911	0.0:0.0:0.8141:0.1859	.	83;83;82;83	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	K	83;83;73	ENSP00000078445:E83K;ENSP00000252587:E73K	ENSP00000078445:E83K	E	+	1	0	CREB3L3	4108082	0.379000	0.25123	0.048000	0.18961	0.104000	0.19210	2.573000	0.46007	1.188000	0.43014	0.537000	0.68136	GAA		0.672	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		18	82	0	0	0	1	0	18	82				
MYH14	79784	broad.mit.edu	37	19	50804959	50804959	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50804959C>T	ENST00000596571.1	+	37	5388	c.5388C>T	c.(5386-5388)ttC>ttT	p.F1796F	MYH14_ENST00000598205.1_Silent_p.F1804F|MYH14_ENST00000425460.1_Silent_p.F1804F|MYH14_ENST00000601313.1_Silent_p.F1837F|MYH14_ENST00000262269.8_Silent_p.F1837F|MYH14_ENST00000376970.2_Silent_p.F1829F|MYH14_ENST00000440075.2_Silent_p.F1837F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1796					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCGCAGTTTCTCAGCCAAGG	0.627																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5509-5511)ttC>ttT		myosin, heavy chain 14, non-muscle							40.0	46.0	44.0					19																	50804959		2059	4225	6284	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50804959C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5388C>T	19.37:g.50804959C>T						MYH14_ENST00000598205.1_Silent_p.F1804F|MYH14_ENST00000376970.2_Silent_p.F1829F|MYH14_ENST00000262269.8_Silent_p.F1837F|MYH14_ENST00000601313.1_Silent_p.F1837F|MYH14_ENST00000596571.1_Silent_p.F1796F|MYH14_ENST00000425460.1_Silent_p.F1804F	p.F1837F			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5558	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1796					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.5511C>T	CCDS59411.1																																																																																				0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		16	70	0	0	0	1	0	16	70				
MAP3K11	4296	broad.mit.edu	37	11	65375490	65375490	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:65375490G>C	ENST00000530153.1	-	3	722	c.201C>G	c.(199-201)ggC>ggG	p.G67G	MAP3K11_ENST00000309100.3_Silent_p.G324G|MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000534432.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCAGTCAATGCCACGGTATG	0.592																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(970-972)ggC>ggG		mitogen-activated protein kinase kinase kinase 11							109.0	82.0	91.0					11																	65375490		2201	4297	6498	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375490G>C		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.201C>G	11.37:g.65375490G>C						MAP3K11_ENST00000530153.1_Silent_p.G67G	p.G324G	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			3	1457	-			324			Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.972C>G																																																																																					0.592	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			17	73	0	0	0	1	0	17	73				
GRHL3	57822	broad.mit.edu	37	1	24680895	24680895	+	Intron	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:24680895C>T	ENST00000350501.5	+	15	1821				STPG1_ENST00000468303.1_5'Flank|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Q530*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Q483*|GRHL3_ENST00000361548.4_Nonsense_Mutation_p.Q576*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Q581*	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)						central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAACATCATTCAGCATTACAG	0.517																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1726-1728)Cag>Tag		grainyhead-like 3 (Drosophila)							168.0	138.0	148.0					1																	24680895		2203	4300	6503	SO:0001627	intron_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24680895C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1694+4283C>T	1.37:g.24680895C>T						GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Q530*|GRHL3_ENST00000350501.5_Intron|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Q483*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Q581*	p.Q576*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	16	1956	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	0					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Nonsense_Mutation	SNP	ENST00000350501.5	37	c.1726C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	40	8.173446	0.98688	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000356046;ENST00000236255	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	.	.	.	X	576;483;530;581	.	ENSP00000236255:Q581X	Q	+	1	0	GRHL3	24553482	0.999000	0.42202	0.997000	0.53966	0.914000	0.54420	4.266000	0.58871	2.865000	0.98341	0.655000	0.94253	CAG		0.517	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		13	50	0	0	0	1	0	13	50				
HDLBP	3069	broad.mit.edu	37	2	242202142	242202142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242202142G>A	ENST00000391975.1	-	5	661	c.434C>T	c.(433-435)gCt>gTt	p.A145V	HDLBP_ENST00000391976.2_Missense_Mutation_p.A145V|HDLBP_ENST00000427183.2_Missense_Mutation_p.A181V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A145V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	145					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGCAGTCTAGCAACAATGTC	0.547																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(433-435)gCt>gTt		high density lipoprotein binding protein							159.0	143.0	149.0					2																	242202142		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242202142G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.434C>T	2.37:g.242202142G>A	ENSP00000375836:p.Ala145Val					HDLBP_ENST00000427183.2_Missense_Mutation_p.A181V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A145V|HDLBP_ENST00000391976.2_Missense_Mutation_p.A145V	p.A145V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	5	661	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	145					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.434C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471449	0.63737	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092	T;T;T;T;T;T;T;T	0.64803	2.09;2.09;2.09;2.08;0.93;0.93;-0.12;0.84	5.82	5.82	0.92795	.	0.102657	0.64402	D	0.000002	T	0.57330	0.2046	N	0.25647	0.755	0.80722	D	1	B;B	0.31174	0.241;0.311	B;B	0.38327	0.101;0.271	T	0.51020	-0.8758	10	0.27082	T	0.32	-15.2613	20.0953	0.97838	0.0:0.0:1.0:0.0	.	181;145	E7EM71;Q00341	.;VIGLN_HUMAN	V	145;145;145;181;145;145;145;145	ENSP00000375836:A145V;ENSP00000375837:A145V;ENSP00000312042:A145V;ENSP00000399139:A181V;ENSP00000403807:A145V;ENSP00000405109:A145V;ENSP00000387782:A145V;ENSP00000416559:A145V	ENSP00000312042:A145V	A	-	2	0	HDLBP	241850815	1.000000	0.71417	0.195000	0.23364	0.988000	0.76386	9.787000	0.99055	2.767000	0.95098	0.655000	0.94253	GCT		0.547	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		13	69	0	0	0	1	0	13	69				
CCDC180	100499483	broad.mit.edu	37	9	100080853	100080853	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100080853C>T	ENST00000357054.1	+	24	2552	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	CCDC180_ENST00000375202.2_Silent_p.L400L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Silent_p.L400L|CCDC180_ENST00000411667.2_Silent_p.L397L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Intron			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	539						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGAAGCATCTCTGCACCATCT	0.612																																						ENST00000375202.2																			0											c.(1198-1200)ctC>ctT		coiled-coil domain containing 180							69.0	57.0	61.0					9																	100080853		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100080853C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1617C>T	9.37:g.100080853C>T						CCDC180_ENST00000411667.2_Silent_p.L397L|CCDC180_ENST00000529487.1_Silent_p.L400L|CCDC180_ENST00000357054.1_Silent_p.L539L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Intron	p.L400L							24	2552	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.1200C>T																																																																																					0.612	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		15	62	0	0	0	1	0	15	62				
TTN	7273	broad.mit.edu	37	2	179587394	179587394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179587394C>T	ENST00000591111.1	-	74	21505	c.21281G>A	c.(21280-21282)aGa>aAa	p.R7094K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R7411K|TTN_ENST00000342992.6_Missense_Mutation_p.R6167K			Q8WZ42	TITIN_HUMAN	titin	12672					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)			ACCTTGAATTCTGAACACAGT	0.323																																						ENST00000589042.1																			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.(22231-22233)aGa>aAa		titin							37.0	37.0	37.0					2																	179587394		1836	4083	5919	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587394C>T	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.21281G>A	2.37:g.179587394C>T	ENSP00000465570:p.Arg7094Lys					TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7094K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6167K	p.R7411K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		76	22456	-			7094			Ig-like 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.22232G>A		.	.	.	.	.	.	.	.	.	.	C	8.969	0.972373	0.18736	.	.	ENSG00000155657	ENST00000342992	T	0.39406	1.08	5.95	5.07	0.68467	Ribonuclease H-like (1);	.	.	.	.	T	0.26304	0.0642	N	0.04805	-0.155	0.80722	D	1	B	0.26775	0.159	B	0.24848	0.056	T	0.11941	-1.0567	9	0.87932	D	0	.	15.6365	0.76958	0.0:0.587:0.413:0.0	.	7094	Q8WZ42	TITIN_HUMAN	K	6167	ENSP00000343764:R6167K	ENSP00000343764:R6167K	R	-	2	0	TTN	179295639	0.996000	0.38824	1.000000	0.80357	0.863000	0.49368	0.972000	0.29409	1.521000	0.48983	-0.156000	0.13503	AGA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	28	0	0	0	1	0	4	28				
ZNF565	147929	broad.mit.edu	37	19	36673657	36673657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673657G>C	ENST00000355114.5	-	5	2057	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.S404*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.S404*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AATGAGGTATGAGCTACGACT	0.463																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1330-1332)tCa>tGa		zinc finger protein 565							120.0	99.0	106.0					19																	36673657		2203	4300	6503	SO:0001587	stop_gained	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673657G>C	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1331C>G	19.37:g.36673657G>C	ENSP00000347234:p.Ser444*					ZNF565_ENST00000304116.5_Nonsense_Mutation_p.S404*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.S404*	p.S444*			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2057	-	Esophageal squamous(110;0.162)		404					B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	37	c.1331C>G		.	.	.	.	.	.	.	.	.	.	g	11.49	1.654305	0.29425	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.81	3.75	0.43078	.	0.000000	0.33382	N	0.004978	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.2797	0.31894	0.0:0.1723:0.6493:0.1784	.	.	.	.	X	404;404;444	.	ENSP00000306869:S404X	S	-	2	0	ZNF565	41365497	0.000000	0.05858	0.345000	0.25642	0.001000	0.01503	0.563000	0.23547	1.379000	0.46325	-0.181000	0.13052	TCA		0.463	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		12	73	0	0	0	1	0	12	73				
PPRC1	23082	broad.mit.edu	37	10	103908277	103908277	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103908277C>T	ENST00000278070.2	+	10	4588	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Splice_Site_p.R1253W|PPRC1_ENST00000370012.1_Splice_Site_p.R484W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1517	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGGAGGCGGCGGTGAGCATG	0.557																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.e10+1		peroxisome proliferator-activated receptor gamma, coactivator-related 1							114.0	109.0	111.0					10																	103908277		2203	4300	6503	SO:0001630	splice_region_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908277C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4550+1C>T	10.37:g.103908277C>T						PPRC1_ENST00000413464.2_Splice_Site_p.R1253_splice|PPRC1_ENST00000370012.1_Splice_Site_p.R484_splice|PPRC1_ENST00000489648.1_3'UTR	p.R1517_splice	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4588	+		Colorectal(252;0.122)	1517			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Splice_Site	SNP	ENST00000278070.2	37	c.4550_splice	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.510311	0.44660	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.48522	0.81;0.81;0.81	5.43	1.98	0.26296	Nucleotide-binding, alpha-beta plait (1);	3.137970	0.00906	N	0.002405	T	0.59473	0.2196	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.52518	-0.8565	10	0.31617	T	0.26	.	13.2285	0.59929	0.6849:0.3151:0.0:0.0	.	1253;1517	E7EVG6;Q5VV67	.;PPRC1_HUMAN	W	1517;1253;484	ENSP00000278070:R1517W;ENSP00000399743:R1253W;ENSP00000359029:R484W	ENSP00000278070:R1517W	R	+	1	2	PPRC1	103898267	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	0.584000	0.23864	0.719000	0.32188	-0.425000	0.05940	CGG		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	Missense_Mutation	38	120	0	0	0	1	0	38	120				
MGA	23269	broad.mit.edu	37	15	41961828	41961828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:41961828C>T	ENST00000570161.1	+	1	736	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	MGA_ENST00000389936.4_Nonsense_Mutation_p.Q246*|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000219905.7_Nonsense_Mutation_p.Q246*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q246*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q246E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGATTACTCAGCTGAAAAT	0.418																																						ENST00000219905.7																			1	Substitution - Missense(1)	p.Q246E(1)	urinary_tract(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(736-738)Cag>Tag		MGA, MAX dimerization protein							73.0	67.0	69.0					15																	41961828		1856	4114	5970	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961828C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.736C>T	15.37:g.41961828C>T	ENSP00000457035:p.Gln246*					MGA_ENST00000389936.4_Nonsense_Mutation_p.Q246*|MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q246*	p.Q246*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	917	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	246					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.736C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	39	7.453772	0.98292	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.93	5.93	0.95920	.	0.048778	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	.	.	.	X	246	.	ENSP00000219905:Q246X	Q	+	1	0	MGA	39749120	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.776000	0.85560	2.814000	0.96858	0.563000	0.77884	CAG		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	25	0	0	0	1	0	5	25				
TRPC3	7222	broad.mit.edu	37	4	122854052	122854052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122854052C>A	ENST00000379645.3	-	2	434	c.361G>T	c.(361-363)Gag>Tag	p.E121*	TRPC3_ENST00000513531.1_Nonsense_Mutation_p.E48*|TRPC3_ENST00000264811.5_Nonsense_Mutation_p.E48*	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	36					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCCGTACTCGGCGGCGTCG	0.662																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(142-144)Gag>Tag		transient receptor potential cation channel, subfamily C, member 3							53.0	51.0	52.0					4																	122854052		2203	4300	6503	SO:0001587	stop_gained	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122854052C>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.361G>T	4.37:g.122854052C>A	ENSP00000368966:p.Glu121*					TRPC3_ENST00000379645.3_Nonsense_Mutation_p.E121*|TRPC3_ENST00000513531.1_Nonsense_Mutation_p.E48*	p.E48*	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	560	-			36					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Nonsense_Mutation	SNP	ENST00000379645.3	37	c.142G>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	41	8.591063	0.98877	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.893	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	48;121;48;48	.	ENSP00000264811:E48X	E	-	1	0	TRPC3	123073502	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	GAG		0.662	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		12	63	1	0	2.80697e-09	1	2.92263e-09	12	63				
SNTB2	6645	broad.mit.edu	37	16	69333548	69333548	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:69333548C>T	ENST00000336278.4	+	6	1439	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	RP11-343C2.11_ENST00000570054.2_5'Flank	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	467						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AAAATGGGTTCACCATCTCAA	0.423																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	ENST00000336278.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(1399-1401)ttC>ttT		syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)							112.0	102.0	105.0					16																	69333548		2198	4300	6498	SO:0001819	synonymous_variant	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69333548C>T	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1401C>T	16.37:g.69333548C>T							p.F467F	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	6	1439	+		Ovarian(137;0.101)	467					Q9BY09	Silent	SNP	ENST00000336278.4	37	c.1401C>T	CCDS10873.1																																																																																				0.423	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			12	54	0	0	0	1	0	12	54				
BACH1	571	broad.mit.edu	37	21	30699037	30699037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30699037C>T	ENST00000399921.1	+	3	1135	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.Q298*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCCTGCTTCTCAGTGCCCAAC	0.423																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(892-894)Cag>Tag		BTB and CNC homology 1, basic leucine zipper transcription factor 1							96.0	99.0	98.0					21																	30699037		2203	4299	6502	SO:0001587	stop_gained	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699037C>T	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.892C>T	21.37:g.30699037C>T	ENSP00000382805:p.Gln298*					BACH1_ENST00000286800.3_Nonsense_Mutation_p.Q298*	p.Q298*	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1135	+			298					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000399921.1	37	c.892C>T	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481851	0.63849	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.65	3.85	0.44370	.	0.659654	0.15681	N	0.249927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.1156	10.9333	0.47230	0.0:0.6624:0.2691:0.0685	.	.	.	.	X	298	.	ENSP00000286800:Q298X	Q	+	1	0	BACH1	29620908	0.989000	0.36119	0.998000	0.56505	0.155000	0.21991	1.608000	0.36847	0.935000	0.37341	0.655000	0.94253	CAG		0.423	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		22	120	0	0	0	1	0	22	120				
TMEM64	169200	broad.mit.edu	37	8	91643929	91643929	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643929C>T	ENST00000458549.2	-	2	979	c.802G>A	c.(802-804)Gat>Aat	p.D268N	TMEM64_ENST00000519519.1_Missense_Mutation_p.D7N|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	268					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AATGAGAGATCAGTAATCTAG	0.373																																						ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(802-804)Gat>Aat		transmembrane protein 64							106.0	99.0	101.0					8																	91643929		2203	4300	6503	SO:0001583	missense	169200					integral to membrane		g.chr8:91643929C>T	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.802G>A	8.37:g.91643929C>T	ENSP00000414786:p.Asp268Asn					TMEM64_ENST00000519519.1_Missense_Mutation_p.D7N|TMEM64_ENST00000418210.2_Intron	p.D268N	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		2	979	-			268					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	c.802G>A	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185127	0.57909	.	.	ENSG00000180694	ENST00000458549;ENST00000519519;ENST00000521852	.	.	.	5.85	4.97	0.65823	.	0.098618	0.64402	D	0.000002	T	0.35711	0.0941	N	0.17312	0.475	0.80722	D	1	B;B	0.34103	0.001;0.437	B;B	0.33799	0.003;0.17	T	0.14117	-1.0484	9	0.19147	T	0.46	.	14.3873	0.66953	0.0:0.9296:0.0:0.0704	.	7;268	Q6YI46-2;Q6YI46	.;TMM64_HUMAN	N	268;7;7	.	ENSP00000414786:D268N	D	-	1	0	TMEM64	91713105	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	4.776000	0.62354	2.773000	0.95371	0.585000	0.79938	GAT		0.373	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		9	52	0	0	0	1	0	9	52				
RELN	5649	broad.mit.edu	37	7	103243902	103243902	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:103243902G>T	ENST00000428762.1	-	24	3341	c.3182C>A	c.(3181-3183)cCa>cAa	p.P1061Q	RELN_ENST00000343529.5_Missense_Mutation_p.P1061Q|RELN_ENST00000424685.2_Missense_Mutation_p.P1061Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1061					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCAGCTTCTGGGTGGCATTC	0.522																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3181-3183)cCa>cAa		reelin							88.0	85.0	86.0					7																	103243902		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243902G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3182C>A	7.37:g.103243902G>T	ENSP00000392423:p.Pro1061Gln					RELN_ENST00000424685.2_Missense_Mutation_p.P1061Q|RELN_ENST00000343529.5_Missense_Mutation_p.P1061Q	p.P1061Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3341	-			1061					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3182C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580778	0.86748	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25579	1.79;1.92;1.88	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.80764	0.83;0.994	T	0.49051	-0.8979	10	0.87932	D	0	.	18.8672	0.92298	0.0:0.0:1.0:0.0	.	1061;1061	P78509-2;P78509	.;RELN_HUMAN	Q	1061	ENSP00000392423:P1061Q;ENSP00000345694:P1061Q;ENSP00000388446:P1061Q	ENSP00000345694:P1061Q	P	-	2	0	RELN	103031138	1.000000	0.71417	0.897000	0.35233	0.960000	0.62799	9.199000	0.95003	2.444000	0.82710	0.655000	0.94253	CCA		0.522	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	58	1	0	4.35082e-09	1	4.52504e-09	20	58				
FAM127C	441518	broad.mit.edu	37	X	134156231	134156231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:134156231C>G	ENST00000391440.1	-	1	328	c.259G>C	c.(259-261)Gag>Cag	p.E87Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	87										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGGGGCTCTCCTTCTTGATG	0.627																																						ENST00000391440.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(259-261)Gag>Cag		family with sequence similarity 127, member C							47.0	51.0	50.0					X																	134156231		2152	4238	6390	SO:0001583	missense	441518							g.chrX:134156231C>G	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.259G>C	X.37:g.134156231C>G	ENSP00000375268:p.Glu87Gln						p.E87Q	NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN			1	328	-	Acute lymphoblastic leukemia(192;0.000127)		87						Missense_Mutation	SNP	ENST00000391440.1	37	c.259G>C	CCDS43996.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.323946	0.00232	.	.	ENSG00000212747	ENST00000391440	T	0.30448	1.53	2.35	-4.69	0.03299	.	2.113360	0.02959	N	0.142909	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.18618	-1.0331	10	0.06891	T	0.86	.	1.4814	0.02437	0.1454:0.2112:0.1584:0.4851	.	87	Q17RB0	F127C_HUMAN	Q	87	ENSP00000375268:E87Q	ENSP00000375268:E87Q	E	-	1	0	FAM127C	133983897	0.786000	0.28738	0.015000	0.15790	0.055000	0.15305	-0.011000	0.12721	-2.065000	0.00887	-1.493000	0.00968	GAG		0.627	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		24	32	0	0	0	1	0	24	32				
TNNT2	7139	broad.mit.edu	37	1	201337314	201337314	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201337314C>G	ENST00000509001.1	-	5	395	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	TNNT2_ENST00000458432.2_Missense_Mutation_p.E49Q|TNNT2_ENST00000367317.4_Missense_Mutation_p.E37Q|TNNT2_ENST00000367318.5_Missense_Mutation_p.E37Q|TNNT2_ENST00000367320.2_Missense_Mutation_p.E47Q|TNNT2_ENST00000236918.7_Missense_Mutation_p.E42Q|TNNT2_ENST00000367315.2_Missense_Mutation_p.E37Q|TNNT2_ENST00000367322.1_Missense_Mutation_p.E37Q|TNNT2_ENST00000421663.2_Missense_Mutation_p.E39Q|TNNT2_ENST00000360372.4_Missense_Mutation_p.E32Q	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCGGTCTCAGCCTCTGCT	0.592																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(109-111)Gag>Cag		troponin T type 2 (cardiac)							101.0	74.0	83.0					1																	201337314		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201337314C>G	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.109G>C	1.37:g.201337314C>G	ENSP00000422031:p.Glu37Gln					TNNT2_ENST00000367322.1_Missense_Mutation_p.E37Q|TNNT2_ENST00000458432.2_Missense_Mutation_p.E49Q|TNNT2_ENST00000236918.7_Missense_Mutation_p.E42Q|TNNT2_ENST00000367317.4_Missense_Mutation_p.E37Q|TNNT2_ENST00000367320.2_Missense_Mutation_p.E47Q|TNNT2_ENST00000360372.4_Missense_Mutation_p.E32Q|TNNT2_ENST00000367315.2_Missense_Mutation_p.E37Q|TNNT2_ENST00000367318.5_Missense_Mutation_p.E37Q|TNNT2_ENST00000421663.2_Missense_Mutation_p.E39Q	p.E37Q	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			5	395	-			47					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.109G>C	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276485	0.40294	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33	4.45	4.45	0.53987	.	0.000000	0.50627	U	0.000104	D	0.98601	0.9532	N	0.08118	0	0.45087	D	0.998102	D;P;P;P	0.67145	0.996;0.849;0.849;0.906	P;P;P;P	0.59487	0.858;0.478;0.478;0.677	D	0.99007	1.0813	10	0.51188	T	0.08	-14.7898	16.1679	0.81785	0.0:1.0:0.0:0.0	.	47;47;37;47	P45379-3;P45379;Q9BUF6;P45379-10	.;TNNT2_HUMAN;.;.	Q	37;37;49;39;42;37;37;32;34;47;37;32;47;42;37	ENSP00000356291:E37Q;ENSP00000356287:E37Q;ENSP00000387874:E49Q;ENSP00000404134:E39Q;ENSP00000236918:E42Q;ENSP00000356286:E37Q;ENSP00000356284:E37Q;ENSP00000353535:E32Q;ENSP00000356289:E47Q;ENSP00000422031:E37Q;ENSP00000414036:E32Q;ENSP00000402238:E47Q;ENSP00000395163:E42Q;ENSP00000408731:E37Q	ENSP00000236918:E42Q	E	-	1	0	TNNT2	199603937	0.885000	0.30320	0.711000	0.30485	0.366000	0.29705	3.811000	0.55620	2.436000	0.82500	0.561000	0.74099	GAG		0.592	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		29	97	0	0	0	1	0	29	97				
MYL7	58498	broad.mit.edu	37	7	44178534	44178534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:44178534C>T	ENST00000223364.3	-	7	540	c.514G>A	c.(514-516)Gag>Aag	p.E172K	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.E145K	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	172	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCTCTTTCTCGTCTCCATGG	0.557																																						ENST00000458240.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						c.(433-435)Gag>Aag		myosin, light chain 7, regulatory							138.0	97.0	111.0					7																	44178534		2203	4300	6503	SO:0001583	missense	58498				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	g.chr7:44178534C>T	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.514G>A	7.37:g.44178534C>T	ENSP00000223364:p.Glu172Lys					MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.E172K	p.E145K			Q01449	MLRA_HUMAN			6	721	-			172			EF-hand 3.		B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	c.433G>A	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213131	0.79352	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314	D;T;T;T	0.83250	-1.7;-0.94;-0.93;-1.28	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	L	0.52905	1.665	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.81799	-0.0767	10	0.06099	T	0.92	.	17.7204	0.88349	0.0:1.0:0.0:0.0	.	172	Q01449	MLRA_HUMAN	K	132;172;145;194	ENSP00000416010:E132K;ENSP00000223364:E172K;ENSP00000403360:E145K;ENSP00000389202:E194K	ENSP00000223364:E172K	E	-	1	0	MYL7	44145059	1.000000	0.71417	0.959000	0.39883	0.863000	0.49368	6.969000	0.76092	2.473000	0.83533	0.655000	0.94253	GAG		0.557	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		12	63	0	0	0	1	0	12	63				
ZNF479	90827	broad.mit.edu	37	7	57188601	57188601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:57188601C>G	ENST00000331162.4	-	5	791	c.521G>C	c.(520-522)aGa>aCa	p.R174T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTTTTATCTCTATTGGAATT	0.284																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(520-522)aGa>aCa		zinc finger protein 479							46.0	44.0	45.0					7																	57188601		1866	4115	5981	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188601C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.521G>C	7.37:g.57188601C>G	ENSP00000333776:p.Arg174Thr						p.R174T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	791	-			174						Missense_Mutation	SNP	ENST00000331162.4	37	c.521G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	6.556	0.470781	0.12461	.	.	ENSG00000185177	ENST00000331162	T	0.35789	1.29	0.324	-0.647	0.11468	.	.	.	.	.	T	0.43144	0.1234	L	0.39898	1.24	0.09310	N	1	D	0.65815	0.995	D	0.73380	0.98	T	0.28586	-1.0039	8	0.51188	T	0.08	.	.	.	.	.	174	Q96JC4	ZN479_HUMAN	T	174	ENSP00000333776:R174T	ENSP00000333776:R174T	R	-	2	0	ZNF479	57192543	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.712000	0.01885	-0.503000	0.06586	-0.498000	0.04607	AGA		0.284	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	30	0	0	0	1	0	5	30				
HPN	3249	broad.mit.edu	37	19	35556472	35556472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556472C>G	ENST00000262626.2	+	11	1762	c.937C>G	c.(937-939)Cga>Gga	p.R313G	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R313G|HPN_ENST00000597419.1_Missense_Mutation_p.R155G	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAGGAGGCTCGAGTCCCCAT	0.612																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(937-939)Cga>Gga		hepsin	Coagulation factor VIIa(DB00036)						46.0	45.0	45.0					19																	35556472		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556472C>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.937C>G	19.37:g.35556472C>G	ENSP00000262626:p.Arg313Gly					HPN_ENST00000597419.1_Missense_Mutation_p.R155G|HPN_ENST00000392226.1_Missense_Mutation_p.R313G|HPN-AS1_ENST00000392227.2_RNA	p.R313G	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		11	1762	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		313			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.937C>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533849	0.27387	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.88896	-2.44;-2.44	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.321288	0.30593	N	0.009295	T	0.75598	0.3871	N	0.13235	0.315	0.80722	D	1	P;P;P	0.38020	0.615;0.615;0.532	B;B;B	0.32289	0.143;0.143;0.12	T	0.74231	-0.3732	10	0.21540	T	0.41	.	9.6146	0.39683	0.0:0.9044:0.0:0.0955	.	285;313;313	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	G	313;313;285	ENSP00000262626:R313G;ENSP00000376060:R313G	ENSP00000262626:R313G	R	+	1	2	HPN	40248312	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.000000	0.12993	2.379000	0.81126	0.561000	0.74099	CGA		0.612	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		5	50	0	0	0	1	0	5	50				
ATP5G1	516	broad.mit.edu	37	17	46973029	46973029	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:46973029C>G	ENST00000393366.2	+	5	412	c.309C>G	c.(307-309)ctC>ctG	p.L103L	ATP5G1_ENST00000506855.1_Silent_p.L77L|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000355938.5_Silent_p.L103L|ATP5G1_ENST00000503641.1_Silent_p.L94L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	103					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						ACCCGTCTCTCAAGCAGCAGC	0.572																																						ENST00000393366.2																			0				liver(1)|lung(1)	2						c.(307-309)ctC>ctG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)							204.0	181.0	189.0					17																	46973029		2203	4300	6503	SO:0001819	synonymous_variant	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46973029C>G	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.309C>G	17.37:g.46973029C>G						ATP5G1_ENST00000506855.1_Silent_p.L77L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000503641.1_Silent_p.L94L|ATP5G1_ENST00000355938.5_Silent_p.L103L	p.L103L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN			5	412	+			103						Silent	SNP	ENST00000393366.2	37	c.309C>G	CCDS11539.1																																																																																				0.572	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		59	206	0	0	0	1	0	59	206				
AMBRA1	55626	broad.mit.edu	37	11	46565585	46565585	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46565585C>T	ENST00000458649.2	-	6	976	c.558G>A	c.(556-558)gtG>gtA	p.V186V	AMBRA1_ENST00000534300.1_Silent_p.V186V|AMBRA1_ENST00000533727.1_Silent_p.V186V|AMBRA1_ENST00000426438.1_Silent_p.V186V|AMBRA1_ENST00000528950.1_Silent_p.V186V|AMBRA1_ENST00000298834.3_Silent_p.V186V|AMBRA1_ENST00000314845.3_Silent_p.V186V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	186					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCAAATCTCACCAGACTAA	0.373																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(556-558)gtG>gtA		autophagy/beclin-1 regulator 1							124.0	120.0	122.0					11																	46565585		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46565585C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.558G>A	11.37:g.46565585C>T						AMBRA1_ENST00000426438.1_Silent_p.V186V|AMBRA1_ENST00000534300.1_Silent_p.V186V|AMBRA1_ENST00000533727.1_Silent_p.V186V|AMBRA1_ENST00000314845.3_Silent_p.V186V|AMBRA1_ENST00000528950.1_Silent_p.V186V|AMBRA1_ENST00000298834.3_Silent_p.V186V	p.V186V			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	6	976	-			186					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.558G>A																																																																																					0.373	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		15	57	0	0	0	1	0	15	57				
ERC2	26059	broad.mit.edu	37	3	56468906	56468906	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56468906G>C	ENST00000288221.6	-	2	385	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	44						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCATAGACAGAGTCTTGCCT	0.527																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(130-132)Ctg>Gtg		ELKS/RAB6-interacting/CAST family member 2							134.0	131.0	132.0					3																	56468906		2006	4174	6180	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468906G>C	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.130C>G	3.37:g.56468906G>C	ENSP00000288221:p.Leu44Val						p.L44V	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	385	-			44					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.130C>G	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403170	0.62288	.	.	ENSG00000187672	ENST00000288221	T	0.58210	0.35	5.62	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.43322	0.1242	L	0.54323	1.7	0.37700	D	0.924197	B	0.32302	0.363	B	0.28916	0.096	T	0.54636	-0.8264	10	0.87932	D	0	-14.8238	6.5002	0.22164	0.2558:0.0:0.7442:0.0	.	44	O15083	ERC2_HUMAN	V	44	ENSP00000288221:L44V	ENSP00000288221:L44V	L	-	1	2	ERC2	56443946	0.944000	0.32072	0.999000	0.59377	0.970000	0.65996	1.695000	0.37763	2.644000	0.89710	0.561000	0.74099	CTG		0.527	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		18	68	0	0	0	1	0	18	68				
ADRBK2	157	broad.mit.edu	37	22	26114340	26114340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:26114340G>A	ENST00000324198.6	+	19	1975	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	595	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGGAGAGGGAGAGTCCCGGGT	0.468																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1783-1785)Gag>Aag		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						106.0	105.0	105.0					22																	26114340		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26114340G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1783G>A	22.37:g.26114340G>A	ENSP00000317578:p.Glu595Lys						p.E595K	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			19	1975	+			595			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1783G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827466	0.50845	.	.	ENSG00000100077	ENST00000324198	T	0.73575	-0.76	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	N	0.16368	0.405	0.80722	D	1	B	0.21688	0.059	B	0.27170	0.077	T	0.56577	-0.7956	10	0.17369	T	0.5	-37.5755	18.3039	0.90174	0.0:0.0:1.0:0.0	.	595	P35626	ARBK2_HUMAN	K	595	ENSP00000317578:E595K	ENSP00000317578:E595K	E	+	1	0	ADRBK2	24444340	1.000000	0.71417	0.940000	0.37924	0.739000	0.42172	8.820000	0.92003	2.635000	0.89317	0.655000	0.94253	GAG		0.468	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		26	112	0	0	0	1	0	26	112				
IRF5	3663	broad.mit.edu	37	7	128588064	128588064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:128588064C>T	ENST00000402030.2	+	7	1093	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	IRF5_ENST00000473745.1_Nonsense_Mutation_p.Q341*|IRF5_ENST00000477535.1_Nonsense_Mutation_p.Q255*|IRF5_ENST00000249375.4_Nonsense_Mutation_p.Q341*|IRF5_ENST00000357234.5_Nonsense_Mutation_p.Q357*	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	341					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCGCCTGTGTCAGTGCAAGGT	0.602																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1021-1023)Cag>Tag		interferon regulatory factor 5							92.0	94.0	94.0					7																	128588064		2203	4300	6503	SO:0001587	stop_gained	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588064C>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1021C>T	7.37:g.128588064C>T	ENSP00000385352:p.Gln341*					IRF5_ENST00000473745.1_Nonsense_Mutation_p.Q341*|IRF5_ENST00000357234.5_Nonsense_Mutation_p.Q357*|IRF5_ENST00000477535.1_Nonsense_Mutation_p.Q255*|IRF5_ENST00000249375.4_Nonsense_Mutation_p.Q341*	p.Q341*	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			7	1093	+			341					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Nonsense_Mutation	SNP	ENST00000402030.2	37	c.1021C>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231585	0.95207	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	.	.	.	5.05	5.05	0.67936	.	0.334930	0.25900	N	0.027562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.1152	16.2564	0.82519	0.0:1.0:0.0:0.0	.	.	.	.	X	357;255;341;341;341;331	.	ENSP00000249375:Q341X	Q	+	1	0	IRF5	128375300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.485000	0.81204	2.513000	0.84729	0.491000	0.48974	CAG		0.602	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		25	145	0	0	0	1	0	25	145				
SIX4	51804	broad.mit.edu	37	14	61187080	61187080	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:61187080G>C	ENST00000216513.4	-	2	1006	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	316					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GATGCCATCAGATGAACTGGA	0.458																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(946-948)tCt>tGt		SIX homeobox 4							141.0	135.0	137.0					14																	61187080		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61187080G>C	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.947C>G	14.37:g.61187080G>C	ENSP00000216513:p.Ser316Cys						p.S316C	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1006	-			316					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.947C>G	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732187	0.69189	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.91945	-2.94	5.62	5.62	0.85841	.	0.229124	0.37178	N	0.002213	D	0.93983	0.8073	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.73380	0.98;0.894	D	0.94507	0.7715	10	0.72032	D	0.01	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	308;316	G3V2N2;Q9UIU6	.;SIX4_HUMAN	C	316;308	ENSP00000216513:S316C	ENSP00000216513:S316C	S	-	2	0	SIX4	60256833	1.000000	0.71417	0.928000	0.36995	0.930000	0.56654	9.411000	0.97342	2.660000	0.90430	0.655000	0.94253	TCT		0.458	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			25	86	0	0	0	1	0	25	86				
RASGRP1	10125	broad.mit.edu	37	15	38786683	38786683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:38786683C>T	ENST00000310803.5	-	16	2336	c.2159G>A	c.(2158-2160)aGa>aAa	p.R720K	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R771K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R672K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R685K|RASGRP1_ENST00000559830.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	720	PT region; mediates the BCR-dependent translocation to plasma membrane. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCCCGCTTTCTGACCAAGAC	0.512																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(2158-2160)aGa>aAa		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							60.0	59.0	59.0					15																	38786683		1849	4083	5932	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38786683C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2159G>A	15.37:g.38786683C>T	ENSP00000310244:p.Arg720Lys					RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R672K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R771K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R685K	p.R720K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	16	2336	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	720			PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.2159G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916202	0.73098	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;D;T	0.83419	-1.32;-1.72;-1.39	5.23	5.23	0.72850	.	0.304644	0.34291	N	0.004083	T	0.81626	0.4862	L	0.29908	0.895	0.41401	D	0.98767	P;D	0.56746	0.924;0.977	B;P	0.53224	0.387;0.721	T	0.76756	-0.2842	10	0.13108	T	0.6	-20.6658	18.9924	0.92798	0.0:1.0:0.0:0.0	.	720;685	O95267;O95267-2	GRP1_HUMAN;.	K	720;685;672	ENSP00000310244:R720K;ENSP00000388540:R685K;ENSP00000444762:R672K	ENSP00000310244:R720K	R	-	2	0	RASGRP1	36573975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.842000	0.69417	2.736000	0.93811	0.655000	0.94253	AGA		0.512	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		4	8	0	0	0	1	0	4	8				
TRIP11	9321	broad.mit.edu	37	14	92470853	92470853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:92470853C>T	ENST00000267622.4	-	11	3840	c.3467G>A	c.(3466-3468)aGa>aAa	p.R1156K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1156					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATAGTTTCTCTAAACATATC	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3466-3468)aGa>aAa		thyroid hormone receptor interactor 11							60.0	54.0	56.0					14																	92470853		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470853C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3467G>A	14.37:g.92470853C>T	ENSP00000267622:p.Arg1156Lys						p.R1156K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3840	-			1156					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3467G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.295976	0.01375	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03004	4.08	5.26	-2.99	0.05497	.	0.445265	0.27084	N	0.021005	T	0.01940	0.0061	N	0.12746	0.255	0.26833	N	0.968533	B;B	0.15473	0.003;0.013	B;B	0.17722	0.004;0.019	T	0.46582	-0.9181	10	0.11794	T	0.64	.	12.1315	0.53946	0.0:0.5022:0.0:0.4978	.	892;1156	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1156;892	ENSP00000267622:R1156K	ENSP00000267622:R1156K	R	-	2	0	TRIP11	91540606	1.000000	0.71417	0.102000	0.21198	0.038000	0.13279	1.687000	0.37680	-0.527000	0.06374	0.557000	0.71058	AGA		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	17	0	0	0	1	0	9	17				
OR8J1	219477	broad.mit.edu	37	11	56128565	56128565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56128565G>T	ENST00000303039.3	+	1	875	c.843G>T	c.(841-843)ttG>ttT	p.L281F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	281						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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTACACGTTGGTAATTCCTA	0.393																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(841-843)ttG>ttT		olfactory receptor, family 8, subfamily J, member 1							112.0	97.0	102.0					11																	56128565		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128565G>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.843G>T	11.37:g.56128565G>T	ENSP00000304060:p.Leu281Phe						p.L281F	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	875	+	Esophageal squamous(21;0.00448)		281					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.843G>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401895	0.25291	.	.	ENSG00000172487	ENST00000303039	T	0.00188	8.59	3.91	0.752	0.18398	GPCR, rhodopsin-like superfamily (1);	0.264070	0.27113	N	0.020880	T	0.00328	0.0010	L	0.60904	1.88	0.09310	N	1	D	0.69078	0.997	D	0.75484	0.986	T	0.52230	-0.8603	10	0.33141	T	0.24	.	3.8547	0.08970	0.0941:0.2968:0.4575:0.1515	.	281	Q8NGP2	OR8J1_HUMAN	F	281	ENSP00000304060:L281F	ENSP00000304060:L281F	L	+	3	2	OR8J1	55885141	0.000000	0.05858	0.867000	0.34043	0.329000	0.28539	-1.591000	0.02100	0.365000	0.24400	0.549000	0.68633	TTG		0.393	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		12	54	1	0	0.00136819	1	0.00138598	12	54				
SCARA5	286133	broad.mit.edu	37	8	27779710	27779710	+	Silent	SNP	C	C	T	rs146865223		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27779710C>T	ENST00000354914.3	-	4	779	c.294G>A	c.(292-294)gtG>gtA	p.V98V	SCARA5_ENST00000518030.1_Silent_p.V55V|SCARA5_ENST00000524352.1_Silent_p.V98V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.V55V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	98					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCAGCCGGTTCACATTGCGAG	0.662																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(292-294)gtG>gtA		scavenger receptor class A, member 5 (putative)							20.0	22.0	22.0					8																	27779710		2202	4300	6502	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779710C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.294G>A	8.37:g.27779710C>T						SCARA5_ENST00000301906.4_Silent_p.V55V|SCARA5_ENST00000518030.1_Silent_p.V55V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Silent_p.V98V	p.V98V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	779	-		Ovarian(32;0.0218)	98					Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.294G>A	CCDS6064.1																																																																																				0.662	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		3	29	0	0	0	1	0	3	29				
PARK7	11315	broad.mit.edu	37	1	8025464	8025464	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:8025464C>T	ENST00000493678.1	+	3	238	c.171C>T	c.(169-171)agC>agT	p.S57S	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Silent_p.S57S|PARK7_ENST00000338639.5_Silent_p.S57S|PARK7_ENST00000377493.5_Silent_p.S57S|PARK7_ENST00000377491.1_Silent_p.S57S			Q99497	PARK7_HUMAN	parkinson protein 7	57					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGCCAGCCTTGAAGATG	0.418																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(169-171)agC>agT		parkinson protein 7							142.0	140.0	141.0					1																	8025464		2203	4300	6503	SO:0001819	synonymous_variant	11315				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8025464C>T	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.171C>T	1.37:g.8025464C>T						PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000338639.5_Silent_p.S57S|PARK7_ENST00000377491.1_Silent_p.S57S|PARK7_ENST00000377488.1_Silent_p.S57S|PARK7_ENST00000377493.5_Silent_p.S57S	p.S57S			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	3	238	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	57					B2R4Z1|O14805|Q6DR95|Q7LFU2	Silent	SNP	ENST00000493678.1	37	c.171C>T	CCDS93.1																																																																																				0.418	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		6	50	0	0	0	1	0	6	50				
CHD3	1107	broad.mit.edu	37	17	7800404	7800404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7800404G>C	ENST00000330494.7	+	11	1861	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	CHD3_ENST00000380358.4_Missense_Mutation_p.E630Q|CHD3_ENST00000358181.4_Missense_Mutation_p.E571Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	571	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGCTAGCTGGAAATCTTCCA	0.532																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1888-1890)Gaa>Caa		chromodomain helicase DNA binding protein 3							57.0	51.0	53.0					17																	7800404		2203	4300	6503	SO:0001583	missense	1107				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|protein binding|zinc ion binding	g.chr17:7800404G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1711G>C	17.37:g.7800404G>C	ENSP00000332628:p.Glu571Gln					CHD3_ENST00000358181.4_Missense_Mutation_p.E571Q|CHD3_ENST00000330494.7_Missense_Mutation_p.E571Q	p.E630Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			11	1889	+		Prostate(122;0.202)	571					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1888G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.774769|3.774769	0.70107|0.70107	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Chromo domain-like (1);Chromo domain/shadow (2);|.	0.000000|.	0.45867|.	D|.	0.000333|.	T|T	0.75488|0.75488	0.3856|0.3856	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.72481|0.72481	-0.4280|-0.4280	10|5	0.62326|.	D|.	0.03|.	-21.6832|-21.6832	19.9412|19.9412	0.97163|0.97163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	571;571;630|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	Q|A	630;571;571|441	ENSP00000369716:E630Q;ENSP00000350907:E571Q;ENSP00000332628:E571Q|.	ENSP00000332628:E571Q|.	E|G	+|+	1|2	0|0	CHD3|CHD3	7741129|7741129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	9.780000|9.780000	0.99024|0.99024	2.728000|2.728000	0.93425|0.93425	0.549000|0.549000	0.68633|0.68633	GAA|GGA		0.532	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		9	36	0	0	0	1	0	9	36				
MPP6	51678	broad.mit.edu	37	7	24705289	24705289	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705289G>C	ENST00000222644.5	+	7	1116	c.866G>C	c.(865-867)aGa>aCa	p.R289T	MPP6_ENST00000396475.2_Missense_Mutation_p.R289T|MPP6_ENST00000409761.1_Missense_Mutation_p.R177T			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTTGTTAGAAGAGACTGGGAC	0.418																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(865-867)aGa>aCa		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							104.0	100.0	101.0					7																	24705289		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24705289G>C	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.866G>C	7.37:g.24705289G>C	ENSP00000222644:p.Arg289Thr					MPP6_ENST00000409761.1_Missense_Mutation_p.R177T|MPP6_ENST00000222644.4_Missense_Mutation_p.R289T	p.R289T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			8	1165	+			289					B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.866G>C	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816480	0.70912	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.16	5.16	0.70880	Src homology-3 domain (1);	0.000000	0.64402	D	0.000017	T	0.78233	0.4251	L	0.50919	1.6	0.80722	D	1	P	0.41420	0.749	B	0.38264	0.269	T	0.76094	-0.3085	10	0.09590	T	0.72	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	289	Q9NZW5	MPP6_HUMAN	T	289;177;289;289	ENSP00000222644:R289T;ENSP00000386262:R177T;ENSP00000379737:R289T;ENSP00000391020:R289T	ENSP00000222644:R289T	R	+	2	0	MPP6	24671814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.392000	0.81423	0.591000	0.81541	AGA		0.418	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			21	26	0	0	0	1	0	21	26				
NCKIPSD	51517	broad.mit.edu	37	3	48719787	48719787	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:48719787G>A	ENST00000294129.2	-	3	599	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NCKIPSD_ENST00000416649.2_Silent_p.L160L|NCKIPSD_ENST00000341520.4_Silent_p.L160L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	160					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACCTGGTAGAGGCCTCCAT	0.617																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(478-480)ctC>ctT		NCK interacting protein with SH3 domain							109.0	116.0	114.0					3																	48719787		2203	4300	6503	SO:0001819	synonymous_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719787G>A	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.480C>T	3.37:g.48719787G>A						NCKIPSD_ENST00000341520.4_Silent_p.L160L|NCKIPSD_ENST00000416649.2_Silent_p.L160L	p.L160L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	599	-			160					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	c.480C>T	CCDS2776.1																																																																																				0.617	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		51	188	0	0	0	1	0	51	188				
STRIP2	57464	broad.mit.edu	37	7	129110548	129110548	+	Missense_Mutation	SNP	G	G	A	rs370580251		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:129110548G>A	ENST00000249344.2	+	18	1976	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	STRIP2_ENST00000435494.2_Missense_Mutation_p.E646K	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	646					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GCTTACTACTGAAAGTCTGGT	0.458																																						ENST00000249344.2																			0											c.(1936-1938)Gaa>Aaa		striatin interacting protein 2		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	134.0	114.0	121.0		1936,1936	5.7	0.9	7		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM40B	NM_001134336.1,NM_020704.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	646/759,646/835	129110548	1,13005	2203	4300	6503	SO:0001583	missense	57464							g.chr7:129110548G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1936G>A	7.37:g.129110548G>A	ENSP00000249344:p.Glu646Lys					STRIP2_ENST00000435494.2_Missense_Mutation_p.E646K	p.E646K	NM_020704.2	NP_065755.1					18	1976	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1936G>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271225	0.95429	0.0	1.16E-4	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47869	0.83;0.84	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.76002	2.32	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.966	T	0.61277	-0.7095	10	0.15499	T	0.54	-25.4315	18.9208	0.92525	0.0:0.0:1.0:0.0	.	646;646	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	K	646	ENSP00000249344:E646K;ENSP00000392393:E646K	ENSP00000249344:E646K	E	+	1	0	FAM40B	128897784	1.000000	0.71417	0.922000	0.36590	0.718000	0.41266	9.013000	0.93629	2.720000	0.93068	0.650000	0.86243	GAA		0.458	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	32	0	0	0	1	0	4	32				
LTA	4049	broad.mit.edu	37	6	31541366	31541366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31541366G>A	ENST00000454783.1	+	4	772	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	LTA_ENST00000418386.2_Missense_Mutation_p.A172T|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	172					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACGGGGCTGCGTTCCAGCT	0.597																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(514-516)Gcg>Acg		lymphotoxin alpha	Etanercept(DB00005)						177.0	171.0	173.0					6																	31541366		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541366G>A	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.514G>A	6.37:g.31541366G>A	ENSP00000403495:p.Ala172Thr					LTA_ENST00000418386.2_Missense_Mutation_p.A172T	p.A172T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			4	772	+			172					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.514G>A	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727207	0.48833	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	D;D	0.94497	-3.44;-3.44	5.16	5.16	0.70880	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.140610	0.47852	D	0.000216	T	0.80793	0.4691	N	0.12182	0.205	0.32397	N	0.552417	P	0.38617	0.64	B	0.28232	0.087	D	0.83429	0.0037	10	0.52906	T	0.07	-19.2519	14.0181	0.64536	0.0:0.0:1.0:0.0	.	172	P01374	TNFB_HUMAN	T	172	ENSP00000403495:A172T;ENSP00000413450:A172T	ENSP00000413450:A172T	A	+	1	0	LTA	31649345	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	5.524000	0.67105	2.676000	0.91093	0.655000	0.94253	GCG		0.597	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			60	211	0	0	0	1	0	60	211				
AKR1E2	83592	broad.mit.edu	37	10	4889384	4889384	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4889384C>T	ENST00000298375.7	+	9	953	c.882C>T	c.(880-882)ctC>ctT	p.L294L	AKR1E2_ENST00000334019.4_Silent_p.L237L|AKR1E2_ENST00000345253.5_Silent_p.L196L|AKR1E2_ENST00000532248.1_Silent_p.L237L	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	294						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATAACATCCTCAGCCTAAACA	0.368																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(880-882)ctC>ctT		aldo-keto reductase family 1, member E2							151.0	142.0	145.0					10																	4889384		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4889384C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.882C>T	10.37:g.4889384C>T						AKR1E2_ENST00000334019.4_Silent_p.L237L|AKR1E2_ENST00000345253.5_Silent_p.L196L|AKR1E2_ENST00000532248.1_Silent_p.L237L	p.L294L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			9	953	+			294					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.882C>T	CCDS31134.1																																																																																				0.368	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		20	87	0	0	0	1	0	20	87				
GCN1L1	10985	broad.mit.edu	37	12	120597714	120597714	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:120597714C>T	ENST00000300648.6	-	24	2676	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	888					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGACTTCAGCAAGGGCA	0.572																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2662-2664)ctG>ctA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							71.0	82.0	79.0					12																	120597714		2019	4178	6197	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120597714C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2664G>A	12.37:g.120597714C>T							p.L888L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			24	2676	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		888					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2664G>A	CCDS41847.1																																																																																				0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			15	86	0	0	0	1	0	15	86				
ZNF702P	79986	broad.mit.edu	37	19	53473868	53473868	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:53473868C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TCATATCAGTCTGTATTACCT	0.383																																						ENST00000600068.1																			0																																																			79986							g.chr19:53473868C>T																													19.37:g.53473868C>T						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.383	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			21	122	0	0	0	1	0	21	122				
SH3GL2	6456	broad.mit.edu	37	9	17793364	17793364	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:17793364G>A	ENST00000380607.4	+	8	848		c.e8-1		SH3GL2_ENST00000537391.1_Splice_Site	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTTTACTGCAGAATAAGACAG	0.418																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.e8-1		SH3-domain GRB2-like 2							83.0	78.0	80.0					9																	17793364		2203	4300	6503	SO:0001630	splice_region_variant	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17793364G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.729-1G>A	9.37:g.17793364G>A						SH3GL2_ENST00000537391.1_Splice_Site		NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	8	848	+								B2R618|Q9NQK5	Splice_Site	SNP	ENST00000380607.4	37		CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017451	0.75161	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3GL2	17783364	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.037000	0.93765	2.708000	0.92522	0.561000	0.74099	.		0.418	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	Intron	9	27	0	0	0	1	0	9	27				
OPA1	4976	broad.mit.edu	37	3	193384985	193384985	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:193384985G>C	ENST00000392438.3	+	27	2968	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	OPA1_ENST00000361150.2_Missense_Mutation_p.E913Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E967Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E931Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E949Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E930Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	912					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAATGTTAAAGAGGTATTGGA	0.333																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2899-2901)Gag>Cag		optic atrophy 1 (autosomal dominant)							123.0	119.0	120.0					3																	193384985		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193384985G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2734G>C	3.37:g.193384985G>C	ENSP00000376233:p.Glu912Gln					OPA1_ENST00000361150.2_Missense_Mutation_p.E913Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E912Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E931Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E930Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E949Q	p.E967Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	29	3133	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		912					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2899G>C	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929595|4.929595	0.92389|0.92389	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863|ENST00000429164	D;D;D;D;D;D;D|D	0.92752|0.93133	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1|-3.17	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93919|0.93919	0.8054|0.8054	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;P;B|.	0.38677|.	0.151;0.307;0.151;0.151;0.361;0.264;0.642;0.402|.	B;B;B;B;B;B;B;B|.	0.35114|.	0.099;0.083;0.099;0.099;0.112;0.17;0.196;0.17|.	D|D	0.94180|0.94180	0.7431|0.7431	10|7	0.44086|0.87932	T|D	0.13|0	-21.5737|-21.5737	19.2499|19.2499	0.93919|0.93919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	876;912;894;913;930;949;931;967|.	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5|.	.;OPA1_HUMAN;.;.;.;.;.;.|.	Q|N	949;912;967;931;930;913;104|7	ENSP00000354681:E949Q;ENSP00000376233:E912Q;ENSP00000355324:E967Q;ENSP00000355311:E931Q;ENSP00000354429:E930Q;ENSP00000354781:E913Q;ENSP00000398358:E104Q|ENSP00000411699:K7N	ENSP00000354781:E913Q|ENSP00000411699:K7N	E|K	+|+	1|3	0|2	OPA1|OPA1	194867679|194867679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.827000|9.827000	0.99397|0.99397	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.333	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		17	83	0	0	0	1	0	17	83				
VRK3	51231	broad.mit.edu	37	19	50496183	50496183	+	Missense_Mutation	SNP	C	C	G	rs56089748	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50496183C>G	ENST00000599538.1	-	10	1561	c.897G>C	c.(895-897)gaG>gaC	p.E299D	VRK3_ENST00000377011.2_Missense_Mutation_p.E249D|VRK3_ENST00000594092.1_Missense_Mutation_p.E299D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.E299D|VRK3_ENST00000443401.2_Missense_Mutation_p.E68D|VRK3_ENST00000594948.1_Missense_Mutation_p.E299D|VRK3_ENST00000593919.1_Missense_Mutation_p.E299D|VRK3_ENST00000601341.1_Missense_Mutation_p.E249D|VRK3_ENST00000601912.1_Missense_Mutation_p.E249D			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CATACTCATTCTCATGGAGGA	0.507																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(895-897)gaG>gaC		vaccinia related kinase 3							143.0	132.0	136.0					19																	50496183		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50496183C>G	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.897G>C	19.37:g.50496183C>G	ENSP00000469880:p.Glu299Asp					VRK3_ENST00000594092.1_Missense_Mutation_p.E299D|VRK3_ENST00000377011.2_Missense_Mutation_p.E249D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.E299D|VRK3_ENST00000601912.1_Missense_Mutation_p.E249D|VRK3_ENST00000601341.1_Missense_Mutation_p.E249D|VRK3_ENST00000443401.2_Missense_Mutation_p.E68D|VRK3_ENST00000594948.1_Missense_Mutation_p.E299D|VRK3_ENST00000593919.1_Missense_Mutation_p.E299D	p.E299D			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	10	1561	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	299			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.897G>C	CCDS12791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.410717|2.410717	0.42817|0.42817	.|.	.|.	ENSG00000105053|ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401|ENST00000424804	T;T;T|.	0.20069|.	2.1;2.1;2.1|.	5.05|5.05	2.26|2.26	0.28386|0.28386	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.294129|.	0.36200|.	N|.	0.002726|.	T|T	0.33265|0.33265	0.0857|0.0857	L|L	0.54323|0.54323	1.7|1.7	0.20764|0.20764	N|N	0.999856|0.999856	B;B;B;B|P	0.16603|0.43750	0.0;0.014;0.018;0.018|0.816	B;B;B;B|B	0.20184|0.42282	0.004;0.017;0.028;0.028|0.382	T|T	0.19877|0.19877	-1.0292|-1.0292	10|8	0.41790|0.87932	T|D	0.15|0	-38.4433|-38.4433	6.126|6.126	0.20180|0.20180	0.0:0.4857:0.0:0.5143|0.0:0.4857:0.0:0.5143	.|.	68;299;249;299|277	B4DGW1;Q8IV63-2;A6NEG5;Q8IV63|E7EMG6	.;.;.;VRK3_HUMAN|.	D|T	299;249;68|277	ENSP00000324636:E299D;ENSP00000366210:E249D;ENSP00000414907:E68D|.	ENSP00000324636:E299D|ENSP00000402958:R277T	E|R	-|-	3|2	2|0	VRK3|VRK3	55187995|55187995	0.049000|0.049000	0.20398|0.20398	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	-1.238000|-1.238000	0.02919|0.02919	0.624000|0.624000	0.30286|0.30286	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.507	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		44	111	0	0	0	1	0	44	111				
IQCB1	9657	broad.mit.edu	37	3	121547447	121547447	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:121547447C>G	ENST00000310864.6	-	4	347	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E45Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	45					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTCTTCAACTCTGAGCTTCCT	0.318																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(133-135)Gag>Cag		IQ motif containing B1							56.0	52.0	53.0					3																	121547447		2203	4299	6502	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121547447C>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.133G>C	3.37:g.121547447C>G	ENSP00000311505:p.Glu45Gln					IQCB1_ENST00000349820.6_Missense_Mutation_p.E45Q	p.E45Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	4	347	-			45					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.133G>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957741	0.73902	.	.	ENSG00000173226	ENST00000310864;ENST00000349820;ENST00000462442	T;T;T	0.10860	2.83;2.83;2.83	5.35	5.35	0.76521	.	0.057901	0.64402	D	0.000002	T	0.21062	0.0507	L	0.27053	0.805	0.25984	N	0.98234	D;D	0.76494	0.981;0.999	D;D	0.83275	0.954;0.996	T	0.02676	-1.1125	10	0.56958	D	0.05	-15.0295	14.4364	0.67284	0.0:1.0:0.0:0.0	.	45;45	Q15051;Q15051-2	IQCB1_HUMAN;.	Q	45	ENSP00000311505:E45Q;ENSP00000323756:E45Q;ENSP00000419376:E45Q	ENSP00000311505:E45Q	E	-	1	0	IQCB1	123030137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.114000	0.50383	2.789000	0.95967	0.655000	0.94253	GAG		0.318	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		6	35	0	0	0	1	0	6	35				
MMP21	118856	broad.mit.edu	37	10	127455440	127455440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:127455440G>A	ENST00000368808.3	-	7	1500	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	501					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CTGAAAGGATGATTTTGTGGT	0.348																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1501-1503)Cat>Tat		matrix metallopeptidase 21							102.0	104.0	103.0					10																	127455440		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127455440G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1501C>T	10.37:g.127455440G>A	ENSP00000357798:p.His501Tyr						p.H501Y	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			7	1500	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	501					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.1501C>T	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493682	0.64186	.	.	ENSG00000154485	ENST00000368808	T	0.18960	2.18	5.95	5.95	0.96441	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.74258	2.255	0.54753	D	0.999982	D	0.89917	1.0	D	0.74348	0.983	T	0.12889	-1.0530	10	0.25106	T	0.35	-0.8619	17.8792	0.88835	0.0:0.0:1.0:0.0	.	501	Q8N119	MMP21_HUMAN	Y	501	ENSP00000357798:H501Y	ENSP00000357798:H501Y	H	-	1	0	MMP21	127445430	1.000000	0.71417	0.686000	0.30086	0.143000	0.21401	6.487000	0.73633	2.825000	0.97269	0.655000	0.94253	CAT		0.348	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			21	41	0	0	0	1	0	21	41				
KIF6	221458	broad.mit.edu	37	6	39554039	39554039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:39554039C>T	ENST00000287152.7	-	8	1082	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIF6_ENST00000373213.4_Missense_Mutation_p.D169N|KIF6_ENST00000373215.3_Missense_Mutation_p.D330N|KIF6_ENST00000373216.3_Missense_Mutation_p.D330N|KIF6_ENST00000538893.1_Missense_Mutation_p.D330N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	330	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D330Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCACATACATCAAGATTCCTT	0.438																																						ENST00000287152.7																			2	Substitution - Missense(2)	p.D330Y(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(988-990)Gat>Aat		kinesin family member 6							170.0	158.0	162.0					6																	39554039		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39554039C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.988G>A	6.37:g.39554039C>T	ENSP00000287152:p.Asp330Asn					KIF6_ENST00000373213.4_Missense_Mutation_p.D169N|KIF6_ENST00000373216.3_Missense_Mutation_p.D330N|KIF6_ENST00000373215.3_Missense_Mutation_p.D330N|KIF6_ENST00000538893.1_Missense_Mutation_p.D330N	p.D330N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			8	1082	-			330					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.988G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132312	0.77662	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.86	5.86	0.93980	Kinesin, motor domain (3);	.	.	.	.	T	0.78886	0.4354	L	0.55017	1.72	0.80722	D	1	D;B;B;D	0.63880	0.985;0.046;0.2;0.993	P;B;B;P	0.60286	0.798;0.098;0.139;0.872	T	0.79017	-0.1975	9	0.56958	D	0.05	.	17.9595	0.89081	0.0:1.0:0.0:0.0	.	330;330;330;330	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	N	330;330;169;330;330;117;121	ENSP00000287152:D330N;ENSP00000362312:D330N;ENSP00000362309:D169N;ENSP00000362311:D330N;ENSP00000441435:D330N;ENSP00000404856:D117N	ENSP00000287152:D330N	D	-	1	0	KIF6	39662017	0.999000	0.42202	0.042000	0.18584	0.191000	0.23601	4.670000	0.61583	2.781000	0.95711	0.650000	0.86243	GAT		0.438	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		16	87	0	0	0	1	0	16	87				
CASP8	841	broad.mit.edu	37	2	202151261	202151261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202151261C>T	ENST00000432109.2	+	10	1573	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q479*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q378*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q521*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q447*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	462					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATGGGGAAACAGATGCCTCA	0.358										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1561-1563)Cag>Tag		caspase 8, apoptosis-related cysteine peptidase							204.0	182.0	190.0					2																	202151261		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202151261C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1384C>T	2.37:g.202151261C>T	ENSP00000412523:p.Gln462*	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q447*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q378*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q479*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q462*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR	p.Q521*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			9	1757	+			462					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1561C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517457	0.64634	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.72	5.72	0.89469	.	0.055094	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8816	0.96901	0.0:1.0:0.0:0.0	.	.	.	.	X	447;378;462;479;521;447;241	.	ENSP00000264274:Q378X	Q	+	1	0	CASP8	201859506	1.000000	0.71417	0.983000	0.44433	0.052000	0.14988	7.818000	0.86416	2.690000	0.91761	0.555000	0.69702	CAG		0.358	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		10	62	0	0	0	1	0	10	62				
MEIS3	56917	broad.mit.edu	37	19	47910191	47910191	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:47910191G>A	ENST00000558555.1	-	11	1219	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	MEIS3_ENST00000331559.5_Silent_p.I373I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000441740.2_Silent_p.I327I			Q99687	MEIS3_HUMAN	Meis homeobox 3	344					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706																																						ENST00000331559.5																			1	Substitution - coding silent(1)	p.I390I(1)	large_intestine(1)	breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(1117-1119)atC>atT		Meis homeobox 3							39.0	21.0	27.0					19																	47910191		2192	4289	6481	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47910191G>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.1032C>T	19.37:g.47910191G>A						MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000558555.1_Silent_p.I344I|MEIS3_ENST00000441740.2_Silent_p.I327I	p.I373I	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	11	1560	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	344					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.1119C>T																																																																																					0.706	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		4	14	0	0	0	1	0	4	14				
MED12L	116931	broad.mit.edu	37	3	150873977	150873977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:150873977C>T	ENST00000474524.1	+	5	624	c.586C>T	c.(586-588)Cga>Tga	p.R196*	MED12L_ENST00000422248.2_Nonsense_Mutation_p.R196*|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R196*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.R196*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	196						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATATCTTCGAGAGCAGTT	0.458																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(586-588)Cga>Tga		mediator complex subunit 12-like							90.0	87.0	88.0					3																	150873977		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150873977C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.586C>T	3.37:g.150873977C>T	ENSP00000417235:p.Arg196*					MED12L_ENST00000422248.2_Nonsense_Mutation_p.R196*|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R196*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.R196*	p.R196*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	624	+			196					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.586C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481083	0.96307	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	.	.	.	4.78	3.88	0.44766	.	0.081367	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8211	7.599	0.28065	0.1711:0.744:0.0:0.0849	.	.	.	.	X	196	.	ENSP00000273432:R196X	R	+	1	2	MED12L	152356667	0.955000	0.32602	0.984000	0.44739	0.947000	0.59692	1.698000	0.37794	1.060000	0.40578	0.557000	0.71058	CGA		0.458	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		18	70	0	0	0	1	0	18	70				
ZNF565	147929	broad.mit.edu	37	19	36673808	36673808	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673808G>C	ENST00000355114.5	-	5	1906	c.1180C>G	c.(1180-1182)Caa>Gaa	p.Q394E	ZNF565_ENST00000392173.2_Missense_Mutation_p.Q354E|ZNF565_ENST00000304116.5_Missense_Mutation_p.Q354E			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGAATTCTTTGATGTCGAGTA	0.488																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1180-1182)Caa>Gaa		zinc finger protein 565							97.0	86.0	90.0					19																	36673808		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673808G>C	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1180C>G	19.37:g.36673808G>C	ENSP00000347234:p.Gln394Glu					ZNF565_ENST00000304116.5_Missense_Mutation_p.Q354E|ZNF565_ENST00000392173.2_Missense_Mutation_p.Q354E	p.Q394E			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1906	-	Esophageal squamous(110;0.162)		354					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1180C>G		.	.	.	.	.	.	.	.	.	.	g	7.078	0.569705	0.13560	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.17854	2.25;2.25;2.25	4.7	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35436	N	0.003219	T	0.06050	0.0157	N	0.01679	-0.765	0.22050	N	0.999391	P	0.37276	0.589	B	0.31686	0.134	T	0.21895	-1.0232	10	0.66056	D	0.02	.	12.2477	0.54581	0.0:0.0:0.8284:0.1716	.	354	Q8N9K5	ZN565_HUMAN	E	354;354;394	ENSP00000376013:Q354E;ENSP00000306869:Q354E;ENSP00000347234:Q394E	ENSP00000306869:Q354E	Q	-	1	0	ZNF565	41365648	0.155000	0.22806	1.000000	0.80357	0.030000	0.12068	1.426000	0.34870	1.317000	0.45149	-0.187000	0.12897	CAA		0.488	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		17	77	0	0	0	1	0	17	77				
TRIM67	440730	broad.mit.edu	37	1	231351159	231351159	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231351159G>A	ENST00000366653.5	+	10	2325	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	TRIM67_ENST00000444294.3_Silent_p.L773L|TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000449018.3_Silent_p.L713L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	775	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGACTAACCTGGGGCGGCCAA	0.592																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2317-2319)ctG>ctA		tripartite motif containing 67							39.0	44.0	42.0					1																	231351159		2081	4225	6306	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231351159G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2325G>A	1.37:g.231351159G>A						TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000449018.3_Silent_p.L713L|TRIM67_ENST00000366653.5_Silent_p.L775L	p.L773L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			10	3177	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	775			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.2319G>A	CCDS44333.1																																																																																				0.592	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		7	18	0	0	0	1	0	7	18				
SLC9A3	6550	broad.mit.edu	37	5	476783	476783	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:476783C>G	ENST00000264938.3	-	12	1774	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580Q|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	589					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.E589K(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACATTTTCTCTCCTGCGT	0.667																																						ENST00000264938.3																			1	Substitution - Missense(1)	p.E589K(1)	lung(1)	NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1765-1767)Gaa>Caa		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							50.0	43.0	46.0					5																	476783		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476783C>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1765G>C	5.37:g.476783C>G	ENSP00000264938:p.Glu589Gln					CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580Q	p.E589Q	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		12	1774	-			589					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1765G>C	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379219	0.61735	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.78364	-1.17;-1.17	4.56	4.56	0.56223	.	1.705140	0.03474	N	0.214143	D	0.83510	0.5270	M	0.77103	2.36	0.41892	D	0.990371	P;P	0.48640	0.913;0.791	B;B	0.43575	0.424;0.419	T	0.75665	-0.3239	10	0.42905	T	0.14	.	16.9225	0.86167	0.0:1.0:0.0:0.0	.	580;589	E9PF67;P48764	.;SL9A3_HUMAN	Q	589;580	ENSP00000264938:E589Q;ENSP00000422983:E580Q	ENSP00000264938:E589Q	E	-	1	0	SLC9A3	529783	1.000000	0.71417	0.996000	0.52242	0.032000	0.12392	5.075000	0.64407	2.099000	0.63709	0.561000	0.74099	GAA		0.667	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	40	0	0	0	1	0	9	40				
ZNF292	23036	broad.mit.edu	37	6	87966217	87966217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:87966217C>G	ENST00000369577.3	+	8	2913	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S952*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	957						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAGAAAACTCAACTGTGGAA	0.438																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(2869-2871)tCa>tGa		zinc finger protein 292							83.0	80.0	81.0					6																	87966217		1921	4121	6042	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966217C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2870C>G	6.37:g.87966217C>G	ENSP00000358590:p.Ser957*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S952*	p.S957*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2913	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	957					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.2870C>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681755	0.47991	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.47	3.27	0.37495	.	0.445973	0.21525	N	0.073155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.3396	0.21314	0.0:0.6567:0.0:0.3433	.	.	.	.	X	957;952	.	ENSP00000342847:S952X	S	+	2	0	ZNF292	88022936	0.090000	0.21635	0.145000	0.22337	0.005000	0.04900	1.828000	0.39111	1.416000	0.47057	0.591000	0.81541	TCA		0.438	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	76	0	0	0	1	0	4	76				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398																																						ENST00000328299.3																			2	Nonstop extension(2)	p.*306S(2)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(916-918)tGa>tCa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							156.0	160.0	159.0					1																	77094490		2203	4300	6503	SO:0001578	stop_lost	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094490G>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.917G>C	1.37:g.77094490G>C	ENSP00000329214:p.*306Serext*1						p.*306S	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			5	1065	+			0					Q6PCE0|Q6UX29|Q8N259	Nonstop_Mutation	SNP	ENST00000328299.3	37	c.917G>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.180898	0.38511	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6397	0.95753	0.0:0.0:1.0:0.0	.	.	.	.	S	306;305;204	.	.	X	+	2	2	ST6GALNAC3	76867078	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.952000	0.93031	2.704000	0.92352	0.645000	0.84053	TGA		0.398	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		18	88	0	0	0	1	0	18	88				
THUMPD3	25917	broad.mit.edu	37	3	9426271	9426271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426271C>T	ENST00000345094.3	+	10	1757	c.1423C>T	c.(1423-1425)Ctt>Ttt	p.L475F	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L475F|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L475F|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	475						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CGTTGGTGGTCTTCGTGCTGC	0.438																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1423-1425)Ctt>Ttt		THUMP domain containing 3							448.0	377.0	401.0					3																	9426271		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426271C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1423C>T	3.37:g.9426271C>T	ENSP00000339532:p.Leu475Phe					THUMPD3_ENST00000515662.2_Missense_Mutation_p.L475F|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L475F|SETD5-AS1_ENST00000468186.1_RNA	p.L475F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1757	+	Medulloblastoma(99;0.227)		475					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.1423C>T	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.166257|5.166257	0.94768|0.94768	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000416603	T;T;T|.	0.34072|.	1.38;1.38;1.38|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Putative RNA methylase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81805|0.81805	0.4900|0.4900	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.81820|0.81820	-0.0757|-0.0757	10|5	0.87932|.	D|.	0|.	-47.4225|-47.4225	19.3706|19.3706	0.94481|0.94481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	475|.	Q9BV44|.	THUM3_HUMAN|.	F|F	475|245	ENSP00000395893:L475F;ENSP00000339532:L475F;ENSP00000424064:L475F|.	ENSP00000339532:L475F|.	L|S	+|+	1|2	0|0	THUMPD3|THUMPD3	9401271|9401271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	4.999000|4.999000	0.63934|0.63934	2.694000|2.694000	0.91930|0.91930	0.555000|0.555000	0.69702|0.69702	CTT|TCT		0.438	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		30	163	0	0	0	1	0	30	163				
ZGRF1	55345	broad.mit.edu	37	4	113483555	113483555	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:113483555G>A	ENST00000505019.1	-	18	4794	c.4669C>T	c.(4669-4671)Cta>Tta	p.L1557L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1557						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTAGAGGTAGAGTAGCTGGA	0.343																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4669-4671)Cta>Tta		chromosome 4 open reading frame 21							106.0	89.0	94.0					4																	113483555		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113483555G>A																												ENST00000505019.1:c.4669C>T	4.37:g.113483555G>A							p.L1557L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	18	4794	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.4669C>T																																																																																					0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	8	0	0	0	1	0	6	8				
IPO7	10527	broad.mit.edu	37	11	9462019	9462019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462019G>A	ENST00000379719.3	+	23	2855	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	905	Asp-rich.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGGGAGTGATGAAGATGATAT	0.373																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2713-2715)Gaa>Aaa		importin 7							96.0	90.0	92.0					11																	9462019		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9462019G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2713G>A	11.37:g.9462019G>A	ENSP00000369042:p.Glu905Lys						p.E905K	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	23	2855	+			905			Asp-rich.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2713G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492571	0.96339	.	.	ENSG00000205339	ENST00000379719	T	0.08546	3.08	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01045	-1.1470	10	0.54805	T	0.06	.	20.039	0.97573	0.0:0.0:1.0:0.0	.	905	O95373	IPO7_HUMAN	K	905	ENSP00000369042:E905K	ENSP00000369042:E905K	E	+	1	0	IPO7	9418595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.701000	0.98710	2.808000	0.96608	0.552000	0.68991	GAA		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		13	55	0	0	0	1	0	13	55				
EIF4E1B	253314	broad.mit.edu	37	5	176070095	176070095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176070095G>A	ENST00000318682.6	+	4	612	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.E10K	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	10					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGAAGCTGAGGGTGGAAT	0.597																																						ENST00000318682.6																			0				breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(28-30)Gag>Aag		eukaryotic translation initiation factor 4E family member 1B							24.0	29.0	27.0					5																	176070095		2102	4233	6335	SO:0001583	missense	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176070095G>A		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.28G>A	5.37:g.176070095G>A	ENSP00000323714:p.Glu10Lys					EIF4E1B_ENST00000504597.1_Missense_Mutation_p.E10K	p.E10K	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	612	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	10						Missense_Mutation	SNP	ENST00000318682.6	37	c.28G>A	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785073	0.31593	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.49432	0.78;0.78	4.39	0.386	0.16254	.	.	.	.	.	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28776	-1.0033	9	0.02654	T	1	.	5.5334	0.16997	0.2828:0.1491:0.5681:0.0	.	10	A6NMX2	I4E1B_HUMAN	K	10	ENSP00000323714:E10K;ENSP00000427633:E10K	ENSP00000323714:E10K	E	+	1	0	EIF4E1B	176002701	0.109000	0.22037	0.000000	0.03702	0.119000	0.20118	1.451000	0.35145	-0.048000	0.13401	-1.134000	0.01955	GAG		0.597	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		7	17	0	0	0	1	0	7	17				
BMS1P20	96610	broad.mit.edu	37	22	22664137	22664137	+	RNA	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:22664137G>C	ENST00000426066.1	+	0	660					NR_027293.1				BMS1 pseudogene 20																		GGCCAAATTTGAAGGTGCTGT	0.438																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664137G>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664137G>C								NR_027293.1						0	660	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.438	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			18	93	0	0	0	1	0	18	93				
MED11	400569	broad.mit.edu	37	17	4638390	4638390	+	IGR	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638390G>A	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Missense_Mutation_p.P258S|CXCL16_ENST00000293778.6_Missense_Mutation_p.P258S|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						AGTTTACCTGGAGAGGACTGC	0.607																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(772-774)Cca>Tca		chemokine (C-X-C motif) ligand 16							47.0	45.0	46.0					17																	4638390		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638390G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638390G>A						CXCL16_ENST00000574412.1_Missense_Mutation_p.P258S|CXCL16_ENST00000576153.1_5'UTR	p.P258S	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	1194	-			239					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.772C>T	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019989	0.75275	.	.	ENSG00000161921	ENST00000293778	T	0.33216	1.42	5.42	-1.68	0.08212	.	0.496584	0.18620	N	0.135890	T	0.16896	0.0406	L	0.40543	1.245	0.09310	N	1	P	0.46142	0.873	B	0.40101	0.319	T	0.12682	-1.0538	10	0.34782	T	0.22	.	1.7593	0.02989	0.3065:0.1302:0.4304:0.1329	.	239	Q9H2A7	CXL16_HUMAN	S	258	ENSP00000293778:P258S	ENSP00000293778:P258S	P	-	1	0	CXCL16	4585139	0.187000	0.23238	0.093000	0.20910	0.811000	0.45836	0.168000	0.16622	-0.078000	0.12730	0.561000	0.74099	CCA		0.607	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		11	50	0	0	0	1	0	11	50				
CSMD1	64478	broad.mit.edu	37	8	3266975	3266975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:3266975G>A	ENST00000520002.1	-	14	2272	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q573*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	573	Sushi 3. {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)		CCAGACCACTGATTGTTCTGC	0.532																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1717-1719)Cag>Tag		CUB and Sushi multiple domains 1							51.0	51.0	51.0					8																	3266975		1971	4162	6133	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3266975G>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.1717C>T	8.37:g.3266975G>A	ENSP00000430733:p.Gln573*					CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q573*	p.Q573*			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)	14	2272	-		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)	573			Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.1717C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.638969|11.638969	0.99585|0.99585	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.74928	.|0.3781	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73943	.|-0.3823	.|3	0.35671|.	T|.	0.21|.	.|.	18.8659|18.8659	0.92292|0.92292	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	573;573;435;572;572;572|52	.|.	ENSP00000320445:Q435X|.	Q|S	-|-	1|2	0|0	CSMD1|CSMD1	3254382|3254382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.549000|9.549000	0.98106|0.98106	2.443000|2.443000	0.82685|0.82685	0.573000|0.573000	0.79308|0.79308	CAG|TCA		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	17	0	0	0	1	0	6	17				
GRIK1	2897	broad.mit.edu	37	21	30934044	30934044	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30934044C>G	ENST00000399907.1	-	15	2668	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	GRIK1_ENST00000389124.2_Missense_Mutation_p.E753Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E753Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E755Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E738Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E738Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E738Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E755Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	753					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTGGTGGACTCCATCAGCAGC	0.547																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2212-2214)Gag>Cag		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						158.0	127.0	138.0					21																	30934044		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30934044C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2257G>C	21.37:g.30934044C>G	ENSP00000382791:p.Glu753Gln					GRIK1_ENST00000399913.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E738Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E755Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E753Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E753Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E738Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E755Q	p.E738Q			P39086	GRIK1_HUMAN			14	2733	-			753					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2212G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040814	0.93685	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	H	0.95982	3.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.69146	-0.5222	10	0.87932	D	0	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	738;753;753;738	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	753;738;753;738;755;614;753;753;738;755	ENSP00000327687:E753Q;ENSP00000373777:E738Q;ENSP00000382797:E753Q;ENSP00000382798:E738Q;ENSP00000446326:E755Q;ENSP00000373776:E753Q;ENSP00000382791:E753Q;ENSP00000382793:E738Q;ENSP00000311646:E755Q	ENSP00000311646:E755Q	E	-	1	0	GRIK1	29855915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.733000	0.93635	0.655000	0.94253	GAG		0.547	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			13	46	0	0	0	1	0	13	46				
PHLDA3	23612	broad.mit.edu	37	1	201437834	201437834	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201437834C>G	ENST00000367311.3	-	1	478	c.81G>C	c.(79-81)aaG>aaC	p.K27N	PHLDA3_ENST00000367309.1_Missense_Mutation_p.K27N|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	27	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						AGCGCTTCCGCTTCCACAGCT	0.726																																						ENST00000367311.3																			0				lung(1)|prostate(1)	2						c.(79-81)aaG>aaC		pleckstrin homology-like domain, family A, member 3							9.0	11.0	11.0					1																	201437834		2170	4254	6424	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437834C>G	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.81G>C	1.37:g.201437834C>G	ENSP00000356280:p.Lys27Asn					PHLDA3_ENST00000367309.1_Missense_Mutation_p.K27N	p.K27N	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN			1	478	-			27			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.81G>C	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352100	0.82132	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.37915	1.17;1.17	3.75	-0.552	0.11818	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.48484	0.1502	L	0.55213	1.73	0.48511	D	0.999669	D	0.89917	1.0	D	0.87578	0.998	T	0.43556	-0.9384	10	0.87932	D	0	-6.9712	9.091	0.36610	0.0:0.6623:0.0:0.3377	.	27	Q9Y5J5	PHLA3_HUMAN	N	27	ENSP00000356280:K27N;ENSP00000356278:K27N	ENSP00000356278:K27N	K	-	3	2	PHLDA3	199704457	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	2.330000	0.43885	-0.069000	0.12931	0.491000	0.48974	AAG		0.726	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2	NM_012396		4	16	0	0	0	1	0	4	16				
TPD52L2	7165	broad.mit.edu	37	20	62505042	62505042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:62505042C>G	ENST00000346249.4	+	3	263	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	TPD52L2_ENST00000358548.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L40V|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L63V|TPD52L2_ENST00000352482.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000351424.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000217121.5_Missense_Mutation_p.L63V	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	63					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AATTGTCACTCTGCGCCAGGT	0.557																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(187-189)Ctg>Gtg		tumor protein D52-like 2							63.0	61.0	62.0					20																	62505042		2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62505042C>G	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.187C>G	20.37:g.62505042C>G	ENSP00000343547:p.Leu63Val					TPD52L2_ENST00000346249.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L40V|TPD52L2_ENST00000351424.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000358548.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000352482.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L63V	p.L63V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			3	259	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		63					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.187C>G	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078915	0.55753	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.75	4.72	0.59763	.	0.000000	0.64402	D	0.000004	T	0.69043	0.3067	M	0.91663	3.23	0.47949	D	0.999557	D;D;D;D;P;D;D;D	0.76494	0.998;0.993;0.998;0.998;0.702;0.999;0.972;0.994	D;D;D;D;B;D;P;P	0.81914	0.951;0.951;0.951;0.951;0.421;0.995;0.823;0.889	T	0.75099	-0.3437	10	0.87932	D	0	-12.8729	11.6605	0.51343	0.0:0.8833:0.0:0.1167	.	40;14;63;63;63;63;63;63	B4DPJ6;B4DDV4;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;TPD54_HUMAN;.;.;.;.	V	40;63;63;63;63;63;63	ENSP00000358943:L40V;ENSP00000343547:L63V;ENSP00000343554:L63V;ENSP00000344647:L63V;ENSP00000340006:L63V;ENSP00000217121:L63V;ENSP00000351350:L63V	ENSP00000217121:L63V	L	+	1	2	TPD52L2	61975486	0.064000	0.20934	0.983000	0.44433	0.656000	0.38851	0.525000	0.22956	2.734000	0.93682	0.585000	0.79938	CTG		0.557	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			9	33	0	0	0	1	0	9	33				
RBP3	5949	broad.mit.edu	37	10	48385882	48385882	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:48385882C>T	ENST00000224600.4	-	2	3323	c.3210G>A	c.(3208-3210)aaG>aaA	p.K1070K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1070	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTGCATGATCTTCTTCCAGA	0.562																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3208-3210)aaG>aaA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						121.0	103.0	109.0					10																	48385882		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48385882C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3210G>A	10.37:g.48385882C>T							p.K1070K	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			2	3323	-			1070			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.3210G>A	CCDS7218.1																																																																																				0.562	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		17	81	0	0	0	1	0	17	81				
OR10K2	391107	broad.mit.edu	37	1	158390306	158390306	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:158390306G>A	ENST00000314902.2	-	1	350	c.351C>T	c.(349-351)gtC>gtT	p.V117V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CATAACCCATGACTGCCAGCA	0.517																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(349-351)gtC>gtT		olfactory receptor, family 10, subfamily K, member 2							176.0	171.0	173.0					1																	158390306		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390306G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.351C>T	1.37:g.158390306G>A							p.V117V	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	350	-	all_hematologic(112;0.0378)		117						Silent	SNP	ENST00000314902.2	37	c.351C>T	CCDS30896.1																																																																																				0.517	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		28	83	0	0	0	1	0	28	83				
ST5	6764	broad.mit.edu	37	11	8737201	8737201	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737201G>C	ENST00000534127.1	-	9	2179	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	ST5_ENST00000357665.1_Silent_p.L598L|ST5_ENST00000313726.6_Silent_p.L598L|ST5_ENST00000526757.1_Silent_p.L178L|ST5_ENST00000530991.1_Silent_p.L70L|ST5_ENST00000530438.1_Silent_p.L178L|ST5_ENST00000526099.1_Silent_p.L111L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	598					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGTGGTGCTGAGGCTGTCTT	0.672																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1792-1794)ctC>ctG		suppression of tumorigenicity 5							56.0	55.0	55.0					11																	8737201		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737201G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1794C>G	11.37:g.8737201G>C						ST5_ENST00000526757.1_Silent_p.L178L|ST5_ENST00000313726.6_Silent_p.L598L|ST5_ENST00000526099.1_Silent_p.L111L|ST5_ENST00000530991.1_Silent_p.L70L|ST5_ENST00000357665.1_Silent_p.L598L|ST5_ENST00000530438.1_Silent_p.L178L	p.L598L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2179	-			598					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1794C>G	CCDS7791.1																																																																																				0.672	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		13	59	0	0	0	1	0	13	59				
KIAA1549L	25758	broad.mit.edu	37	11	33682490	33682490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:33682490C>G	ENST00000321505.4	+	19	5378	c.5198C>G	c.(5197-5199)tCa>tGa	p.S1733*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.S1739*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1733						integral component of membrane (GO:0016021)											ACGCCTCCCTCATCCTATAGG	0.557																																						ENST00000321505.4																			0											c.(5197-5199)tCa>tGa		KIAA1549-like							44.0	47.0	46.0					11																	33682490		1989	4161	6150	SO:0001587	stop_gained	25758							g.chr11:33682490C>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5198C>G	11.37:g.33682490C>G	ENSP00000315295:p.Ser1733*					KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.S1739*	p.S1733*							19	5378	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.5198C>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	46	12.831204	0.99699	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	4.86	4.86	0.63082	.	0.386788	0.19923	N	0.103056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4105	16.1908	0.81987	0.0:1.0:0.0:0.0	.	.	.	.	X	1733;1739;1572	.	ENSP00000315295:S1733X	S	+	2	0	C11orf41	33639066	1.000000	0.71417	0.990000	0.47175	0.945000	0.59286	7.294000	0.78760	2.250000	0.74265	0.491000	0.48974	TCA		0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		6	18	0	0	0	1	0	6	18				
TTN	7273	broad.mit.edu	37	2	179612932	179612932	+	Intron	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179612932G>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.S4732*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TAGGGCACATGATTCACTATA	0.353																																						ENST00000360870.5																			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.(14194-14196)tCa>tAa		titin							60.0	62.0	61.0					2																	179612932		2202	4295	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612932G>T	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.10360+4918C>A	2.37:g.179612932G>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	p.S4732*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14417	-			843			Ig-like 27.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.14195C>A		.	.	.	.	.	.	.	.	.	.	G	55	23.584459	0.99956	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	.	.	.	6.05	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.21290	N	0.999732	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6944	0.45890	0.1504:0.0:0.8496:0.0	.	.	.	.	X	4732;46	.	ENSP00000304714:S46X	S	-	2	0	TTN	179321177	.	.	0.003000	0.11579	0.043000	0.13939	.	.	1.578000	0.49821	0.650000	0.86243	TCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	40	1	0	8.12818e-05	1	8.29678e-05	6	40				
PCLO	27445	broad.mit.edu	37	7	82545234	82545234	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:82545234C>A	ENST00000333891.9	-	7	12405	c.12068G>T	c.(12067-12069)aGc>aTc	p.S4023I	PCLO_ENST00000437081.1_Missense_Mutation_p.S743I|PCLO_ENST00000423517.2_Missense_Mutation_p.S4023I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGGACTGCTTGCCATGCT	0.393																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12067-12069)aGc>aTc		piccolo presynaptic cytomatrix protein							208.0	195.0	199.0					7																	82545234		1938	4141	6079	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545234C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12068G>T	7.37:g.82545234C>A	ENSP00000334319:p.Ser4023Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.S4023I|PCLO_ENST00000437081.1_Missense_Mutation_p.S743I	p.S4023I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12405	-			3954						Missense_Mutation	SNP	ENST00000333891.9	37	c.12068G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750291	0.30955	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18338	2.22;2.22	5.85	5.85	0.93711	.	.	.	.	.	T	0.39860	0.1094	L	0.55481	1.735	0.40466	D	0.980298	P;D;D	0.76494	0.771;0.999;0.999	B;D;D	0.66979	0.424;0.948;0.948	T	0.07829	-1.0752	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3954;4023;4023	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	4023;4023;743	ENSP00000334319:S4023I;ENSP00000388393:S4023I	ENSP00000334319:S4023I	S	-	2	0	PCLO	82383170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.247000	0.51422	2.767000	0.95098	0.563000	0.77884	AGC		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	130	1	0	0.00116845	1	0.00118492	6	130				
ZNF77	58492	broad.mit.edu	37	19	2933611	2933611	+	Missense_Mutation	SNP	G	G	A	rs112261253		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:2933611G>A	ENST00000314531.4	-	4	1606	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAAGGGACGAGGAACAACT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		23571	0.0		0.001	False		,,,				2504	0.0					ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1513-1515)tCg>tTg		zinc finger protein 77		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	213.0	179.0	191.0		1514	-1.6	0.0	19	dbSNP_132	191	0,8600		0,0,4300	no	missense	ZNF77	NM_021217.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	505/546	2933611	1,13005	2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933611G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1514C>T	19.37:g.2933611G>A	ENSP00000319053:p.Ser505Leu						p.S505L	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1606	-			505					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1514C>T	CCDS12099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.73	1.432903	0.25813	2.27E-4	0.0	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.07444	3.19	2.56	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	M	0.75884	2.315	0.09310	N	1	B	0.29612	0.251	B	0.17098	0.017	T	0.23332	-1.0191	9	0.54805	T	0.06	.	4.1462	0.10217	0.2716:0.1894:0.539:0.0	.	505	Q15935	ZNF77_HUMAN	L	299;505	ENSP00000319053:S505L	ENSP00000319053:S505L	S	-	2	0	ZNF77	2884611	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.031000	0.12287	-0.404000	0.07610	0.491000	0.48974	TCG		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		17	58	0	0	0	1	0	17	58				
HSD17B8	7923	broad.mit.edu	37	6	33174212	33174212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33174212C>T	ENST00000374662.3	+	8	782	c.755C>T	c.(754-756)tCa>tTa	p.S252L	HSD17B8_ENST00000469186.1_3'UTR|RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	252					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						ACAGGGACCTCAGTGGAAGTC	0.517																																						ENST00000374662.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						c.(754-756)tCa>tTa		hydroxysteroid (17-beta) dehydrogenase 8	NADH(DB00157)						121.0	122.0	122.0					6																	33174212		1511	2709	4220	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33174212C>T	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.755C>T	6.37:g.33174212C>T	ENSP00000363794:p.Ser252Leu					HSD17B8_ENST00000469186.1_3'UTR	p.S252L	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN			8	782	+			252					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.755C>T	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211920	0.39102	.	.	ENSG00000204228	ENST00000374662	D	0.87491	-2.26	4.27	4.27	0.50696	NAD(P)-binding domain (1);	0.181621	0.43260	D	0.000599	T	0.63908	0.2551	N	0.03294	-0.36	0.48185	D	0.999605	P	0.49307	0.922	B	0.43623	0.425	T	0.75714	-0.3221	10	0.72032	D	0.01	.	10.1478	0.42774	0.0:0.7965:0.2035:0.0	.	252	Q92506	DHB8_HUMAN	L	252	ENSP00000363794:S252L	ENSP00000363794:S252L	S	+	2	0	HSD17B8	33282190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.248000	0.43160	2.204000	0.70986	0.643000	0.83706	TCA		0.517	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		21	67	0	0	0	1	0	21	67				
TRIM25	7706	broad.mit.edu	37	17	54990842	54990842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54990842C>T	ENST00000316881.4	-	1	557	c.508G>A	c.(508-510)Gag>Aag	p.E170K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E170K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	170					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCGCTGTGCTCGGGGCAGAAA	0.657																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(508-510)Gag>Aag		tripartite motif containing 25							34.0	36.0	36.0					17																	54990842		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54990842C>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.508G>A	17.37:g.54990842C>T	ENSP00000323889:p.Glu170Lys					TRIM25_ENST00000537230.1_Missense_Mutation_p.E170K	p.E170K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			1	557	-	Breast(9;6.15e-08)		170						Missense_Mutation	SNP	ENST00000316881.4	37	c.508G>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108410	0.37242	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.57752	0.38;0.38	5.56	-2.25	0.06888	.	0.718258	0.13387	N	0.391716	T	0.38188	0.1031	L	0.56280	1.765	0.21325	N	0.999727	B	0.32918	0.39	B	0.20955	0.032	T	0.22661	-1.0210	10	0.21014	T	0.42	.	11.034	0.47789	0.0:0.347:0.4802:0.1728	.	170	Q14258	TRI25_HUMAN	K	170	ENSP00000323889:E170K;ENSP00000445961:E170K	ENSP00000323889:E170K	E	-	1	0	TRIM25	52345841	0.000000	0.05858	0.021000	0.16686	0.221000	0.24807	0.132000	0.15891	0.007000	0.14760	0.561000	0.74099	GAG		0.657	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		15	49	0	0	0	1	0	15	49				
CCDC57	284001	broad.mit.edu	37	17	80121215	80121215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80121215C>T	ENST00000389641.4	-	13	1937	c.1901G>A	c.(1900-1902)gGt>gAt	p.G634D	CCDC57_ENST00000327026.3_5'UTR|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392347.1_Missense_Mutation_p.G634D|CCDC57_ENST00000392343.3_Missense_Mutation_p.G634D			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	634										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCGGCTTGACCAGCTTGGGC	0.562																																						ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1900-1902)gGt>gAt		coiled-coil domain containing 57							64.0	68.0	67.0					17																	80121215		1953	4157	6110	SO:0001583	missense	284001							g.chr17:80121215C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1901G>A	17.37:g.80121215C>T	ENSP00000374292:p.Gly634Asp					CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.G634D|CCDC57_ENST00000392347.1_Missense_Mutation_p.G634D	p.G634D			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	1937	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		634					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1901G>A		.	.	.	.	.	.	.	.	.	.	C	0.886	-0.727205	0.03158	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.25250	2.99;2.99;1.81	.	.	.	.	.	.	.	.	T	0.12135	0.0295	N	0.22421	0.69	0.09310	N	1	B;B	0.28324	0.006;0.207	B;B	0.21151	0.009;0.033	T	0.34179	-0.9839	7	0.12103	T	0.63	.	.	.	.	.	634;634	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	D	634;634;142;634	ENSP00000374292:G634D;ENSP00000376158:G634D;ENSP00000376154:G634D	ENSP00000315967:G142D	G	-	2	0	CCDC57	77714504	0.002000	0.14202	0.028000	0.17463	0.163000	0.22366	-1.071000	0.03437	0.000000	0.14550	0.000000	0.15137	GGT		0.562	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		11	69	0	0	0	1	0	11	69				
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:19378043C>T	ENST00000550708.1	+	1	522	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(448-450)atC>atT		olfactory receptor, family 11, subfamily H, member 12							86.0	89.0	88.0					14																	19378043		2201	4295	6496	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378043C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.450C>T	14.37:g.19378043C>T							p.I150I	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	522	+	all_cancers(95;0.00108)		150						Silent	SNP	ENST00000550708.1	37	c.450C>T	CCDS32017.1																																																																																				0.458	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		34	208	0	0	0	1	0	34	208				
JADE3	9767	broad.mit.edu	37	X	46884229	46884229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:46884229G>A	ENST00000218343.4	+	5	686	c.388G>A	c.(388-390)Gag>Aag	p.E130K	PHF16_ENST00000397189.1_Missense_Mutation_p.E130K	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAACATCATGGAGTTGGCAGC	0.473																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(388-390)Gag>Aag									137.0	106.0	116.0					X																	46884229		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884229G>A																												ENST00000218343.4:c.388G>A	X.37:g.46884229G>A	ENSP00000218343:p.Glu130Lys					PHF16_ENST00000397189.1_Missense_Mutation_p.E130K	p.E130K	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			5	686	+			130						Missense_Mutation	SNP	ENST00000218343.4	37	c.388G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421049	0.25639	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T	0.52295	0.67;0.67	5.99	5.11	0.69529	Enhancer of polycomb-like, N-terminal (1);	0.200938	0.49916	D	0.000121	T	0.60143	0.2246	M	0.62723	1.935	0.51012	D	0.999906	D	0.55385	0.971	P	0.59357	0.856	T	0.56896	-0.7903	10	0.13108	T	0.6	.	16.1699	0.81801	0.0:0.1299:0.8701:0.0	.	130	Q92613	JADE3_HUMAN	K	130	ENSP00000380373:E130K;ENSP00000218343:E130K	ENSP00000218343:E130K	E	+	1	0	PHF16	46769173	1.000000	0.71417	0.021000	0.16686	0.068000	0.16541	4.448000	0.60027	1.252000	0.44001	0.600000	0.82982	GAG		0.473	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			5	41	0	0	0	1	0	5	41				
SMTNL1	219537	broad.mit.edu	37	11	57310641	57310641	+	Nonsense_Mutation	SNP	C	C	T	rs369744196		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57310641C>T	ENST00000399154.2	+	1	526	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	SMTNL1_ENST00000457912.1_Nonsense_Mutation_p.Q194*|SMTNL1_ENST00000527972.1_Nonsense_Mutation_p.Q176*			A8MU46	SMTL1_HUMAN	smoothelin-like 1	176	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GACAGCCTCTCAGGAGGAGAC	0.547																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(580-582)Cag>Tag		smoothelin-like 1		C	stop/GLN	1,4163		0,1,2081	45.0	49.0	47.0		526	1.0	0.0	11		47	0,8432		0,0,4216	no	stop-gained	SMTNL1	NM_001105565.2		0,1,6297	TT,TC,CC		0.0,0.024,0.0079		176/495	57310641	1,12595	2082	4216	6298	SO:0001587	stop_gained	219537							g.chr11:57310641C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.526C>T	11.37:g.57310641C>T	ENSP00000382108:p.Gln176*					SMTNL1_ENST00000527972.1_Nonsense_Mutation_p.Q176*|SMTNL1_ENST00000399154.2_Nonsense_Mutation_p.Q176*	p.Q194*			E9PPJ3	E9PPJ3_HUMAN			2	580	+			176						Nonsense_Mutation	SNP	ENST00000399154.2	37	c.580C>T		.	.	.	.	.	.	.	.	.	.	C	14.01	2.408398	0.42715	2.4E-4	0.0	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	.	.	.	3.56	1.03	0.20045	.	2.349450	0.03592	U	0.232064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.9499	5.5471	0.17069	0.4644:0.3647:0.1709:0.0	.	.	.	.	X	194;176;176	.	ENSP00000382108:Q176X	Q	+	1	0	SMTNL1	57067217	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.072000	0.11486	0.611000	0.30052	0.655000	0.94253	CAG		0.547	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		6	31	0	0	0	1	0	6	31				
VEZF1	7716	broad.mit.edu	37	17	56058054	56058054	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56058054G>A	ENST00000581208.1	-	4	926	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	VEZF1_ENST00000584396.1_Silent_p.L287L	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	296					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTGCACTCAGGAGCTTCCCA	0.488																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(859-861)Ctg>Ttg		vascular endothelial zinc finger 1							159.0	125.0	136.0					17																	56058054		2203	4300	6503	SO:0001819	synonymous_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56058054G>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.886C>T	17.37:g.56058054G>A						VEZF1_ENST00000581208.1_Silent_p.L296L	p.L287L			Q14119	VEZF1_HUMAN			4	947	-			296						Silent	SNP	ENST00000581208.1	37	c.859C>T	CCDS32687.1																																																																																				0.488	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			15	62	0	0	0	1	0	15	62				
TRIM42	287015	broad.mit.edu	37	3	140401612	140401612	+	Missense_Mutation	SNP	G	G	C	rs374472845		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:140401612G>C	ENST00000286349.3	+	2	841	c.650G>C	c.(649-651)cGc>cCc	p.R217P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	217						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						CTCACCAAGCGCTACATGCAG	0.617																																						ENST00000286349.3																			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.(649-651)cGc>cCc		tripartite motif containing 42							77.0	75.0	76.0					3																	140401612		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401612G>C	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.650G>C	3.37:g.140401612G>C	ENSP00000286349:p.Arg217Pro						p.R217P	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	841	+			217					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.650G>C	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962074	0.74016	.	.	ENSG00000155890	ENST00000286349	T	0.41400	1.0	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.121315	0.36591	N	0.002507	T	0.45558	0.1348	L	0.55990	1.75	0.36335	D	0.859101	D	0.67145	0.996	P	0.51453	0.67	T	0.57757	-0.7756	10	0.87932	D	0	-21.371	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	217	Q8IWZ5	TRI42_HUMAN	P	217	ENSP00000286349:R217P	ENSP00000286349:R217P	R	+	2	0	TRIM42	141884302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.458000	0.45014	2.435000	0.82474	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		31	128	0	0	0	1	0	31	128				
GPR12	2835	broad.mit.edu	37	13	27333650	27333650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:27333650G>C	ENST00000381436.2	-	1	777	c.315C>G	c.(313-315)taC>taG	p.Y105*	GPR12_ENST00000405846.3_Nonsense_Mutation_p.Y105*			P47775	GPR12_HUMAN	G protein-coupled receptor 12	105					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ACTGAAGCAGGTAGGCAAAAA	0.557																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(313-315)taC>taG		G protein-coupled receptor 12							101.0	99.0	99.0					13																	27333650		2203	4300	6503	SO:0001587	stop_gained	2835					integral to plasma membrane		g.chr13:27333650G>C	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.315C>G	13.37:g.27333650G>C	ENSP00000370844:p.Tyr105*					GPR12_ENST00000381436.2_Nonsense_Mutation_p.Y105*	p.Y105*	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	536	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	105					Q5T8P3	Nonsense_Mutation	SNP	ENST00000381436.2	37	c.315C>G	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	37	6.495516	0.97612	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	.	.	.	5.36	5.36	0.76844	.	0.120882	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7263	0.40333	0.1533:0.0:0.8467:0.0	.	.	.	.	X	105	.	ENSP00000370844:Y105X	Y	-	3	2	GPR12	26231650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.313000	0.59160	2.532000	0.85374	0.561000	0.74099	TAC		0.557	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			17	89	0	0	0	1	0	17	89				
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	268					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(802-804)Gag>Cag		eyes absent homolog 2 (Drosophila)							44.0	47.0	46.0					20																	45718018		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45718018G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.802G>C	20.37:g.45718018G>C	ENSP00000333640:p.Glu268Gln					EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			8	1176	+		Myeloproliferative disorder(115;0.0241)	268					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.802G>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854810	0.51376	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	6.03	6.03	0.97812	EYA (1);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.998;0.995;0.995	D	0.93864	0.7156	10	0.87932	D	0	-4.1043	20.5568	0.99304	0.0:0.0:1.0:0.0	.	268;268;268;268	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	Q	268;268;268;268;139	ENSP00000333640:E268Q;ENSP00000349986:E268Q;ENSP00000321590:E268Q;ENSP00000395427:E139Q	ENSP00000321590:E268Q	E	+	1	0	EYA2	45151425	1.000000	0.71417	0.995000	0.50966	0.771000	0.43674	9.007000	0.93597	2.861000	0.98227	0.655000	0.94253	GAG		0.587	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		4	61	0	0	0	1	0	4	61				
FMNL3	91010	broad.mit.edu	37	12	50059692	50059692	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:50059692C>G	ENST00000293590.5	-	4	525		c.e4-1		FMNL3_ENST00000335154.5_Splice_Site|FMNL3_ENST00000550488.1_Splice_Site|FMNL3_ENST00000352151.5_Splice_Site			Q8IVF7	FMNL3_HUMAN	formin-like 3						actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCTGAACTTCTGTAAAAAGG	0.512																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.e4-1		formin-like 3							95.0	95.0	95.0					12																	50059692		1931	4157	6088	SO:0001630	splice_region_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50059692C>G	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.292-1G>C	12.37:g.50059692C>G						FMNL3_ENST00000550488.1_Splice_Site|FMNL3_ENST00000293590.5_Splice_Site|FMNL3_ENST00000352151.5_Splice_Site		NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			4	525	-								B0JZA7|Q6ZRJ1	Splice_Site	SNP	ENST00000293590.5	37			.	.	.	.	.	.	.	.	.	.	C	22.5	4.294466	0.81025	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1193	0.89566	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMNL3	48345959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.490000	0.81461	2.658000	0.90341	0.561000	0.74099	.		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	Intron	33	116	0	0	0	1	0	33	116				
SYNE1	23345	broad.mit.edu	37	6	152647475	152647475	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152647475C>T	ENST00000367255.5	-	79	15850	c.15249G>A	c.(15247-15249)caG>caA	p.Q5083Q	SYNE1_ENST00000265368.4_Silent_p.Q5083Q|SYNE1_ENST00000341594.5_Silent_p.Q4830Q|SYNE1_ENST00000423061.1_Silent_p.Q5012Q|SYNE1_ENST00000448038.1_Silent_p.Q5012Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5083					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCATCCTCTGGCTCCTGA	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15247-15249)caG>caA		spectrin repeat containing, nuclear envelope 1							79.0	82.0	81.0					6																	152647475		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647475C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15249G>A	6.37:g.152647475C>T		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.Q5012Q|SYNE1_ENST00000341594.5_Silent_p.Q4830Q|SYNE1_ENST00000265368.4_Silent_p.Q5083Q|SYNE1_ENST00000448038.1_Silent_p.Q5012Q	p.Q5083Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15850	-		Ovarian(120;0.0955)	5083					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15249G>A	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	60	0	0	0	1	0	12	60				
DNAH5	1767	broad.mit.edu	37	5	13776601	13776601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:13776601G>A	ENST00000265104.4	-	55	9424	c.9320C>T	c.(9319-9321)tCa>tTa	p.S3107L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3107	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCATCCTGAAATTAGGGC	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9319-9321)tCa>tTa		dynein, axonemal, heavy chain 5							112.0	108.0	109.0					5																	13776601		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776601G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9320C>T	5.37:g.13776601G>A	ENSP00000265104:p.Ser3107Leu						p.S3107L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			55	9424	-	Lung NSC(4;0.00476)		3107			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9320C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976511	0.92982	.	.	ENSG00000039139	ENST00000265104	T	0.46819	0.86	5.85	5.85	0.93711	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81422	0.4819	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.87329	0.2323	10	0.87932	D	0	.	20.1653	0.98150	0.0:0.0:1.0:0.0	.	3107	Q8TE73	DYH5_HUMAN	L	3107	ENSP00000265104:S3107L	ENSP00000265104:S3107L	S	-	2	0	DNAH5	13829601	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	9.693000	0.98684	2.768000	0.95171	0.655000	0.94253	TCA		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	125	0	0	0	1	0	8	125				
GAPVD1	26130	broad.mit.edu	37	9	128064373	128064373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064373C>G	ENST00000495955.1	+	5	587	c.297C>G	c.(295-297)ttC>ttG	p.F99L	GAPVD1_ENST00000265956.4_Missense_Mutation_p.F99L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F99L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F99L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.F99L|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000470056.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.F99L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	99					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGGAGAATTCTTGAGTCGAT	0.403																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(295-297)ttC>ttG		GTPase activating protein and VPS9 domains 1							158.0	159.0	159.0					9																	128064373		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128064373C>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.297C>G	9.37:g.128064373C>G	ENSP00000419063:p.Phe99Leu					GAPVD1_ENST00000394105.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.F99L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F99L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F99L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.F99L	p.F99L			Q14C86	GAPD1_HUMAN			3	457	+			99					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.297C>G		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305367	0.60305	.	.	ENSG00000165219	ENST00000461379;ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.73	5.73	0.89815	Rho GTPase activation protein (1);	0.045499	0.85682	D	0.000000	T	0.57373	0.2049	L	0.31664	0.95	0.58432	D	0.999999	B;B;B;B;B;B	0.19817	0.023;0.039;0.039;0.039;0.004;0.005	B;B;B;B;B;B	0.16722	0.007;0.016;0.016;0.016;0.006;0.006	T	0.51926	-0.8643	10	0.22109	T	0.4	.	12.2445	0.54561	0.0:0.9231:0.0:0.0769	.	99;99;99;99;99;99	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	GAPD1_HUMAN;.;.;.;.;.	L	99	ENSP00000377646:F99L;ENSP00000419767:F99L;ENSP00000377665:F99L;ENSP00000377664:F99L;ENSP00000265956:F99L;ENSP00000377645:F99L;ENSP00000419063:F99L;ENSP00000418747:F99L;ENSP00000297933:F99L;ENSP00000309582:F99L	ENSP00000265956:F99L	F	+	3	2	GAPVD1	127104194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.957000	0.49137	2.704000	0.92352	0.655000	0.94253	TTC		0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			15	105	0	0	0	1	0	15	105				
FBRS	64319	broad.mit.edu	37	16	30676372	30676372	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30676372G>A	ENST00000287468.5	+	3	283	c.20G>A	c.(19-21)gGa>gAa	p.G7E	FBRS_ENST00000356166.6_Missense_Mutation_p.G527E|FBRS_ENST00000568722.1_Intron|FBRS_ENST00000395073.2_5'UTR	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	7										ovary(1)	1			Colorectal(24;0.103)			AAATATCCAGGAAAGATGGAA	0.567																																						ENST00000356166.6																			0				ovary(1)	1						c.(1579-1581)gGa>gAa		fibrosin							58.0	64.0	62.0					16																	30676372		2129	4239	6368	SO:0001583	missense	64319							g.chr16:30676372G>A	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.20G>A	16.37:g.30676372G>A	ENSP00000287468:p.Gly7Glu					FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000568722.1_Intron|FBRS_ENST00000287468.5_Missense_Mutation_p.G7E	p.G527E			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		9	2668	+			7					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.1580G>A		.	.	.	.	.	.	.	.	.	.	G	16.77	3.215693	0.58452	.	.	ENSG00000156860	ENST00000356166;ENST00000287468	T	0.49139	0.79	4.66	2.6	0.31112	.	0.000000	0.27139	U	0.020748	T	0.45094	0.1325	L	0.29908	0.895	0.80722	D	1	D	0.53619	0.961	P	0.53689	0.732	T	0.42189	-0.9466	10	0.52906	T	0.07	-1.6312	11.0233	0.47730	0.0:0.1378:0.7212:0.141	.	7	Q9HAH7	FBRS_HUMAN	E	527;7	ENSP00000348489:G527E	ENSP00000287468:G7E	G	+	2	0	FBRS	30583873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.067000	0.71193	2.417000	0.82017	0.591000	0.81541	GGA		0.567	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		10	34	0	0	0	1	0	10	34				
PDE4DIP	9659	broad.mit.edu	37	1	144922249	144922249	+	Nonsense_Mutation	SNP	G	G	A	rs368056556		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144922249G>A	ENST00000369354.3	-	8	1108	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.Q470*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q470*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q94*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q373*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	307					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTCATTTTGACCTTCAATT	0.398			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1408-1410)Caa>Taa		phosphodiesterase 4D interacting protein		G	stop/GLN,stop/GLN,stop/GLN,stop/GLN,stop/GLN	0,4406		0,0,2203	161.0	139.0	146.0		1408,919,1117,919,919	5.9	1.0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	PDE4DIP	NM_001002811.1,NM_001002812.1,NM_001198832.1,NM_001198834.2,NM_014644.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	470/1133,307/970,373/2241,307/2363,307/2347	144922249	1,13005	2203	4300	6503	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144922249G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.919C>T	1.37:g.144922249G>A	ENSP00000358360:p.Gln307*					PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q373*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q470*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q94*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q444*	p.Q470*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	1847	-			307					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.1408C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	39	7.612396	0.98390	0.0	1.16E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	.	.	.	X	373;307;307;470;444;444;307;307;470;470;94	.	ENSP00000327209:Q373X	Q	-	1	0	PDE4DIP	143633606	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.897000	0.92532	2.801000	0.96364	0.650000	0.86243	CAA		0.398	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	28	0	0	0	1	0	3	28				
NUFIP1	26747	broad.mit.edu	37	13	45563316	45563316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:45563316G>A	ENST00000379161.4	-	1	302	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	GPALPP1_ENST00000361121.2_5'Flank|GPALPP1_ENST00000379151.4_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	86	Pro-rich.				box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCCCCGGGAAGAATCTGGGCG	0.657																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(256-258)Ctt>Ttt		nuclear fragile X mental retardation protein interacting protein 1							16.0	19.0	18.0					13																	45563316		2194	4294	6488	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45563316G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.256C>T	13.37:g.45563316G>A	ENSP00000368459:p.Leu86Phe					RP11-321C24.1_ENST00000437748.2_lincRNA	p.L86F	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	1	302	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	86			Pro-rich.		Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.256C>T	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219065	0.39201	.	.	ENSG00000083635	ENST00000379161	T	0.46819	0.86	4.5	4.5	0.54988	.	0.000000	0.40385	N	0.001110	T	0.57095	0.2030	L	0.36672	1.1	0.28541	N	0.912087	D	0.89917	1.0	D	0.83275	0.996	T	0.51687	-0.8674	10	0.51188	T	0.08	-20.2562	12.8986	0.58113	0.0:0.0:1.0:0.0	.	86	Q9UHK0	NUFP1_HUMAN	F	86	ENSP00000368459:L86F	ENSP00000368459:L86F	L	-	1	0	NUFIP1	44461316	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	2.744000	0.47450	2.497000	0.84241	0.563000	0.77884	CTT		0.657	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		8	24	0	0	0	1	0	8	24				
COL4A1	1282	broad.mit.edu	37	13	110815841	110815841	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:110815841C>T	ENST00000375820.4	-	47	4339	c.4218G>A	c.(4216-4218)caG>caA	p.Q1406Q	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1406	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCTCCTTTCTGGCCAGGGG	0.512																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4216-4218)caG>caA		collagen, type IV, alpha 1							58.0	50.0	52.0					13																	110815841		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110815841C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4218G>A	13.37:g.110815841C>T							p.Q1406Q	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		47	4339	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1406			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.4218G>A	CCDS9511.1																																																																																				0.512	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	27	0	0	0	1	0	6	27				
SLC3A2	6520	broad.mit.edu	37	11	62620850	62620850	+	5'Flank	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:62620850C>G	ENST00000377890.2	+	0	0				SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000384756.1_RNA|SLC3A2_ENST00000377891.2_5'Flank|SNHG1_ENST00000384693.1_RNA|SLC3A2_ENST00000377892.1_5'Flank|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000383926.1_RNA|SLC3A2_ENST00000535296.1_5'Flank|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000363981.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCGGTATTCAACTCATCAC	0.448																																						ENST00000364799.1																			0																				120.0	108.0	112.0					11																	62620850		874	1990	2864	SO:0001631	upstream_gene_variant	23642							g.chr11:62620850C>G		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62620850C>G	Exception_encountered							NR_002560.1						0	17	-								Q13543	RNA	SNP	ENST00000377890.2	37		CCDS8039.2																																																																																				0.448	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		5	48	0	0	0	1	0	5	48				
LAMA3	3909	broad.mit.edu	37	18	21355845	21355845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21355845G>A	ENST00000313654.9	+	10	1604	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E455K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	455	Domain V.|Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGACAACTGTGAGAAGTGTGC	0.493																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1363-1365)Gag>Aag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	79.0	80.0					18																	21355845		1963	4158	6121	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355845G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1363G>A	18.37:g.21355845G>A	ENSP00000324532:p.Glu455Lys					LAMA3_ENST00000399516.3_Missense_Mutation_p.E455K	p.E455K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			10	1604	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		455			Domain V.|Laminin EGF-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1363G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324320	0.81580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.65178	-0.14;-0.14	4.92	4.92	0.64577	EGF-like, laminin (4);	.	.	.	.	T	0.81143	0.4761	M	0.85373	2.75	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	P;D;D	0.74674	0.858;0.978;0.984	D	0.84319	0.0515	9	0.72032	D	0.01	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	455;455;455	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	K	455;455;453;455	ENSP00000324532:E455K;ENSP00000382432:E455K	ENSP00000324532:E455K	E	+	1	0	LAMA3	19609843	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.233000	0.72320	2.563000	0.86464	0.591000	0.81541	GAG		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		15	61	0	0	0	1	0	15	61				
NMT1	4836	broad.mit.edu	37	17	43159031	43159031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43159031G>A	ENST00000592782.1	+	3	282	c.151G>A	c.(151-153)Gac>Aac	p.D51N	NMT1_ENST00000258960.2_Missense_Mutation_p.D51N|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	51					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCCAGCCAATGACACTGGAGC	0.398																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(151-153)Gac>Aac		N-myristoyltransferase 1							49.0	52.0	51.0					17																	43159031		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43159031G>A		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.151G>A	17.37:g.43159031G>A	ENSP00000468424:p.Asp51Asn					NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.D51N	p.D51N			P30419	NMT1_HUMAN			3	282	+		Prostate(33;0.155)	51					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.151G>A	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794245	0.70452	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.49139	0.79;1.04	5.38	5.38	0.77491	.	0.164616	0.56097	D	0.000033	T	0.38585	0.1046	L	0.36672	1.1	0.46774	D	0.999191	P	0.36616	0.561	B	0.29942	0.109	T	0.36261	-0.9755	10	0.56958	D	0.05	-14.1445	17.0895	0.86618	0.0:0.0:1.0:0.0	.	51	P30419	NMT1_HUMAN	N	51	ENSP00000258960:D51N;ENSP00000439263:D51N	ENSP00000258960:D51N	D	+	1	0	NMT1	40514557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.766000	0.68843	2.802000	0.96397	0.655000	0.94253	GAC		0.398	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		5	31	0	0	0	1	0	5	31				
DOCK1	1793	broad.mit.edu	37	10	128796359	128796359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:128796359C>G	ENST00000280333.6	+	8	722	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	205					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)		TACACAGTCTCAAAAGCAGAA	0.388																																						ENST00000280333.6																			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.(613-615)Caa>Gaa		dedicator of cytokinesis 1							94.0	89.0	90.0					10																	128796359		1912	4119	6031	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.chr10:128796359C>G	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.613C>G	10.37:g.128796359C>G	ENSP00000280333:p.Gln205Glu						p.Q205E	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	8	722	+		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)	205					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.613C>G		.	.	.	.	.	.	.	.	.	.	C	10.23	1.293686	0.23564	.	.	ENSG00000150760	ENST00000280333	T	0.61274	0.12	5.12	5.12	0.69794	.	0.131051	0.52532	D	0.000069	T	0.57784	0.2077	M	0.62723	1.935	0.53688	D	0.999977	B;B	0.25312	0.123;0.123	B;B	0.22753	0.041;0.041	T	0.56226	-0.8014	10	0.41790	T	0.15	.	18.762	0.91855	0.0:1.0:0.0:0.0	.	205;205	B2RUU3;Q14185	.;DOCK1_HUMAN	E	205	ENSP00000280333:Q205E	ENSP00000280333:Q205E	Q	+	1	0	DOCK1	128686349	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.415000	0.80131	2.646000	0.89796	0.655000	0.94253	CAA		0.388	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		8	36	0	0	0	1	0	8	36				
DMRTA2	63950	broad.mit.edu	37	1	50885279	50885279	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:50885279C>T	ENST00000404795.3	-	3	1079	c.687G>A	c.(685-687)tcG>tcA	p.S229S	DMRTA2_ENST00000418121.1_Silent_p.S229S	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	229	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CCTCTGGGGACGACGTCCCGG	0.706																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(685-687)tcG>tcA		DMRT-like family A2							6.0	7.0	7.0					1																	50885279		1817	4006	5823	SO:0001819	synonymous_variant	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885279C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.687G>A	1.37:g.50885279C>T						DMRTA2_ENST00000418121.1_Silent_p.S229S	p.S229S	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1079	-			229			Gly-rich.		Q5TFQ3	Silent	SNP	ENST00000404795.3	37	c.687G>A	CCDS44141.1																																																																																				0.706	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		5	8	0	0	0	1	0	5	8				
B3GALT2	8707	broad.mit.edu	37	1	193150182	193150182	+	Missense_Mutation	SNP	G	G	A	rs377199898		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:193150182G>A	ENST00000367434.4	-	2	1266	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	171					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAGTTTGCCGAATAGCTCTT	0.368																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(511-513)Cgg>Tgg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							130.0	128.0	129.0					1																	193150182		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150182G>A	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.511C>T	1.37:g.193150182G>A	ENSP00000356404:p.Arg171Trp					CDC73_ENST00000367435.3_Intron	p.R171W	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1266	-			171					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.511C>T	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309330	0.60414	.	.	ENSG00000162630	ENST00000367434	T	0.66815	-0.23	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.92174	0.5746	10	0.87932	D	0	.	14.3762	0.66879	0.0:0.0:0.8521:0.1479	.	171	O43825	B3GT2_HUMAN	W	171	ENSP00000356404:R171W	ENSP00000356404:R171W	R	-	1	2	B3GALT2	191416805	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.849000	0.62882	2.683000	0.91414	0.655000	0.94253	CGG		0.368	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		14	78	0	0	0	1	0	14	78				
BICC1	80114	broad.mit.edu	37	10	60559988	60559988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:60559988C>T	ENST00000373886.3	+	13	1764	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	BICC1_ENST00000263103.1_Missense_Mutation_p.S213L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	587					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATATCCACTTCATCACTTGGA	0.388																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1759-1761)tCa>tTa		bicaudal C homolog 1 (Drosophila)							42.0	40.0	40.0					10																	60559988		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60559988C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1760C>T	10.37:g.60559988C>T	ENSP00000362993:p.Ser587Leu					BICC1_ENST00000263103.1_Missense_Mutation_p.S213L	p.S587L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			13	1764	+			587						Missense_Mutation	SNP	ENST00000373886.3	37	c.1760C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942316	0.73672	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.52526	1.52;0.66	6.02	6.02	0.97574	.	0.242212	0.42964	D	0.000623	T	0.48429	0.1499	L	0.50333	1.59	0.36163	D	0.84823	B;B	0.27853	0.191;0.044	B;B	0.26770	0.073;0.024	T	0.53408	-0.8443	10	0.62326	D	0.03	-6.5682	20.5407	0.99260	0.0:1.0:0.0:0.0	.	507;587	E7EU62;Q9H694	.;BICC1_HUMAN	L	587;213	ENSP00000362993:S587L;ENSP00000263103:S213L	ENSP00000263103:S213L	S	+	2	0	BICC1	60229994	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.335000	0.65929	2.865000	0.98341	0.655000	0.94253	TCA		0.388	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		8	18	0	0	0	1	0	8	18				
ZNF217	7764	broad.mit.edu	37	20	52199198	52199198	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:52199198G>A	ENST00000371471.2	-	2	593	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ZNF217_ENST00000302342.3_Silent_p.V56V|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	56					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGATTTGGATGACATTTTTTT	0.468																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(166-168)gtC>gtT		zinc finger protein 217							123.0	115.0	118.0					20																	52199198		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199198G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.168C>T	20.37:g.52199198G>A						ZNF217_ENST00000302342.3_Silent_p.V56V	p.V56V			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	593	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		56					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.168C>T	CCDS13443.1																																																																																				0.468	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		8	89	0	0	0	1	0	8	89				
ITGA2	3673	broad.mit.edu	37	5	52366052	52366052	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52366052C>G	ENST00000296585.5	+	17	2340	c.2197C>G	c.(2197-2199)Caa>Gaa	p.Q733E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	733					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTAGTAAATCAAGCACAGAG	0.408																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2197-2199)Caa>Gaa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							72.0	71.0	71.0					5																	52366052		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52366052C>G		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2197C>G	5.37:g.52366052C>G	ENSP00000296585:p.Gln733Glu						p.Q733E	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			17	2340	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	733					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2197C>G	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	0.932	-0.712271	0.03206	.	.	ENSG00000164171	ENST00000296585	T	0.57907	0.37	5.86	-0.899	0.10547	Integrin alpha-2 (1);	0.846050	0.10915	N	0.620160	T	0.36744	0.0978	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.34502	-0.9826	10	0.02654	T	1	.	21.5465	0.99956	0.0:0.3566:0.6433:0.0	.	733;733	E7ESP4;P17301	.;ITA2_HUMAN	E	733	ENSP00000296585:Q733E	ENSP00000296585:Q733E	Q	+	1	0	ITGA2	52401809	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.160000	0.16462	-0.152000	0.11156	-0.127000	0.14921	CAA		0.408	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		12	53	0	0	0	1	0	12	53				
ISG20L2	81875	broad.mit.edu	37	1	156693940	156693940	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156693940C>T	ENST00000313146.6	-	2	1730	c.948G>A	c.(946-948)caG>caA	p.Q316Q	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Splice_Site_p.Q316Q	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	316	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGATGCTACCTGGATATCCC	0.572																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.e2+1		interferon stimulated exonuclease gene 20kDa-like 2							104.0	106.0	105.0					1																	156693940		2203	4300	6503	SO:0001630	splice_region_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156693940C>T	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.948+1G>A	1.37:g.156693940C>T						ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Splice_Site_p.Q316_splice	p.Q316_splice	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1730	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		316			Exonuclease.		D3DVC6|Q64KA2	Splice_Site	SNP	ENST00000313146.6	37	c.948_splice	CCDS1153.1																																																																																				0.572	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980	Silent	22	105	0	0	0	1	0	22	105				
ALX1	8092	broad.mit.edu	37	12	85677393	85677393	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:85677393C>G	ENST00000316824.3	+	2	425	c.270C>G	c.(268-270)acC>acG	p.T90T		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	90					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTTCACACCGAACTGAATA	0.453																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(268-270)acC>acG		ALX homeobox 1							102.0	95.0	97.0					12																	85677393		2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677393C>G	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.270C>G	12.37:g.85677393C>G							p.T90T	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	425	+			90					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.270C>G	CCDS9028.1																																																																																				0.453	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		15	58	0	0	0	1	0	15	58				
ITGAM	3684	broad.mit.edu	37	16	31336820	31336820	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31336820G>C	ENST00000287497.8	+	21	2580		c.e21-1		ITGAM_ENST00000544665.3_Splice_Site			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCCTTCCAGAACCAGCGCT	0.607																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.e21-1		integrin, alpha M (complement component 3 receptor 3 subunit)							63.0	67.0	66.0					16																	31336820		2091	4215	6306	SO:0001630	splice_region_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336820G>C	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2506-1G>C	16.37:g.31336820G>C						ITGAM_ENST00000287497.8_Splice_Site		NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			21	2579	+								Q4VAK0|Q4VAK1|Q4VAK2	Splice_Site	SNP	ENST00000287497.8	37		CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928424	0.34002	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	4.87	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.37508	D	0.917023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9626	0.47393	0.0:0.1888:0.8112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAM	31244321	0.944000	0.32072	0.131000	0.22000	0.249000	0.25844	1.760000	0.38430	1.240000	0.43803	0.558000	0.71614	.		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	Intron	20	63	0	0	0	1	0	20	63				
OTX2	5015	broad.mit.edu	37	14	57268852	57268852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:57268852G>C	ENST00000555006.1	-	4	879	c.471C>G	c.(469-471)atC>atG	p.I157M	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.I157M|OTX2_ENST00000339475.5_Missense_Mutation_p.I165M			P32243	OTX2_HUMAN	orthodenticle homeobox 2	157					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACAGTGGGGAGATGGAAGCTG	0.542																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(493-495)atC>atG		orthodenticle homeobox 2							122.0	110.0	114.0					14																	57268852		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268852G>C	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.471C>G	14.37:g.57268852G>C	ENSP00000452336:p.Ile157Met					OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.I157M|OTX2_ENST00000555006.1_Missense_Mutation_p.I157M	p.I165M	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	771	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		157					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.495C>G	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404436	0.62288	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.91631	-2.35;-2.35;-2.35;-2.35;-2.88	6.06	6.06	0.98353	Transcription factor Otx, C-terminal (1);	0.000000	0.46442	D	0.000285	D	0.96272	0.8784	M	0.83483	2.645	0.80722	D	1	P;D	0.60160	0.848;0.987	P;D	0.69142	0.73;0.962	D	0.95438	0.8523	10	0.48119	T	0.1	.	19.1989	0.93701	0.0:0.0:1.0:0.0	.	165;157	F1T0D1;P32243	.;OTX2_HUMAN	M	165;157;157;165;157	ENSP00000343819:I165M;ENSP00000386185:I157M;ENSP00000452336:I157M;ENSP00000451357:I165M;ENSP00000451272:I157M	ENSP00000343819:I165M	I	-	3	3	OTX2	56338605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.719000	0.61937	2.882000	0.98803	0.655000	0.94253	ATC		0.542	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		13	37	0	0	0	1	0	13	37				
EIF4ENIF1	56478	broad.mit.edu	37	22	31837896	31837896	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31837896G>C	ENST00000397525.1	-	17	2638	c.2415C>G	c.(2413-2415)ctC>ctG	p.L805L	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000330125.5_Silent_p.L805L|EIF4ENIF1_ENST00000397523.1_Silent_p.L781L|EIF4ENIF1_ENST00000382180.2_Silent_p.L460L|EIF4ENIF1_ENST00000344710.5_Silent_p.L631L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	805						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACAGGGCGGAGAAAAGGTG	0.552																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2413-2415)ctC>ctG		eukaryotic translation initiation factor 4E nuclear import factor 1							272.0	243.0	253.0					22																	31837896		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31837896G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2415C>G	22.37:g.31837896G>C						EIF4ENIF1_ENST00000382180.2_Silent_p.L460L|EIF4ENIF1_ENST00000344710.5_Silent_p.L631L|EIF4ENIF1_ENST00000330125.5_Silent_p.L805L|EIF4ENIF1_ENST00000397523.1_Silent_p.L781L	p.L805L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			17	2638	-			805					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.2415C>G	CCDS13898.1																																																																																				0.552	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		10	94	0	0	0	1	0	10	94				
SAMD9	54809	broad.mit.edu	37	7	92732104	92732104	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:92732104G>A	ENST00000379958.2	-	3	3576	c.3307C>T	c.(3307-3309)Cta>Tta	p.L1103L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1103						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCCAGTTTAGAGCATTGCCA	0.368																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3307-3309)Cta>Tta		sterile alpha motif domain containing 9							85.0	82.0	83.0					7																	92732104		2203	4299	6502	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92732104G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3307C>T	7.37:g.92732104G>A							p.L1103L	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3576	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1103					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.3307C>T	CCDS34680.1																																																																																				0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		13	59	0	0	0	1	0	13	59				
AHNAK2	113146	broad.mit.edu	37	14	105406785	105406785	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105406785G>A	ENST00000333244.5	-	7	15122	c.15003C>T	c.(15001-15003)atC>atT	p.I5001I	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5001						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATCCATGTGGATGGCAGACT	0.532																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15001-15003)atC>atT		AHNAK nucleoprotein 2							64.0	65.0	65.0					14																	105406785		2014	4180	6194	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406785G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15003C>T	14.37:g.105406785G>A						AHNAK2_ENST00000557457.1_5'UTR	p.I5001I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15122	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5001					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15003C>T	CCDS45177.1																																																																																				0.532	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	71	0	0	0	1	0	13	71				
PRUNE	58497	broad.mit.edu	37	1	151006632	151006632	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151006632C>G	ENST00000271620.3	+	8	1440	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	PRUNE_ENST00000271619.8_Silent_p.L216L|BNIPL_ENST00000368931.3_5'Flank|PRUNE_ENST00000368934.1_Silent_p.L193L|BNIPL_ENST00000295294.7_5'Flank|PRUNE_ENST00000368936.1_Silent_p.L246L|PRUNE_ENST00000368935.1_Silent_p.L143L|PRUNE_ENST00000368937.1_Silent_p.L193L	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	428						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCCTAAACTCTCTGCTGAGG	0.572																																						ENST00000271620.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1282-1284)ctC>ctG		prune exopolyphosphatase							144.0	129.0	134.0					1																	151006632		2203	4300	6503	SO:0001819	synonymous_variant	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:151006632C>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.1284C>G	1.37:g.151006632C>G						PRUNE_ENST00000368935.1_Silent_p.L143L|PRUNE_ENST00000271619.8_Silent_p.L216L|PRUNE_ENST00000368936.1_Silent_p.L246L|PRUNE_ENST00000368934.1_Silent_p.L193L|PRUNE_ENST00000368937.1_Silent_p.L193L	p.L428L	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1440	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		428					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	ENST00000271620.3	37	c.1284C>G	CCDS977.1																																																																																				0.572	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		41	167	0	0	0	1	0	41	167				
CDX2	1045	broad.mit.edu	37	13	28539078	28539078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28539078G>A	ENST00000381020.7	-	2	2748	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	206					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CGACTGTAGTGAAACTCCTTC	0.602			T	ETV6	AML																																	ENST00000381020.7				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(616-618)Cac>Tac		caudal type homeobox 2							80.0	68.0	72.0					13																	28539078		2203	4300	6503	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28539078G>A	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.616C>T	13.37:g.28539078G>A	ENSP00000370408:p.His206Tyr					CDX2_ENST00000548877.1_5'UTR	p.H206Y	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	2	2748	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	206					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.616C>T	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787604	0.96945	.	.	ENSG00000165556	ENST00000381020	D	0.96041	-3.89	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.95576	0.8562	L	0.39245	1.2	0.80722	D	1	B	0.32893	0.389	P	0.46208	0.507	D	0.94967	0.8113	10	0.87932	D	0	-46.7372	19.798	0.96494	0.0:0.0:1.0:0.0	.	206	Q99626	CDX2_HUMAN	Y	206	ENSP00000370408:H206Y	ENSP00000370408:H206Y	H	-	1	0	CDX2	27437078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.795000	0.99099	2.677000	0.91161	0.563000	0.77884	CAC		0.602	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			8	28	0	0	0	1	0	8	28				
MCOLN3	55283	broad.mit.edu	37	1	85491874	85491874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:85491874C>G	ENST00000370589.2	-	8	978	c.926G>C	c.(925-927)aGa>aCa	p.R309T	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R253T|MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000370587.1_Missense_Mutation_p.R309T	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	309					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTGAAGTCCTCTAATCACAGA	0.413																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(925-927)aGa>aCa		mucolipin 3							124.0	113.0	117.0					1																	85491874		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491874C>G	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.926G>C	1.37:g.85491874C>G	ENSP00000359621:p.Arg309Thr					MCOLN3_ENST00000341115.4_Missense_Mutation_p.R253T|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.R309T	p.R309T			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1302	-			309					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.926G>C	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421377	0.25639	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.75477	-0.94;-0.94;-0.94	6.16	-2.67	0.06059	.	0.477030	0.25987	N	0.027030	T	0.29882	0.0747	N	0.17838	0.53	0.21579	N	0.999637	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.0;0.0	T	0.30794	-0.9966	10	0.30078	T	0.28	1.1167	6.4437	0.21865	0.0:0.2965:0.2245:0.479	.	309;309;253;309	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	T	309;309;253;253;309	ENSP00000359621:R309T;ENSP00000342698:R253T;ENSP00000359619:R309T	ENSP00000304843:R309T	R	-	2	0	MCOLN3	85264462	0.163000	0.22920	0.117000	0.21633	0.890000	0.51754	-0.012000	0.12699	-0.300000	0.08895	0.650000	0.86243	AGA		0.413	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		4	55	0	0	0	1	0	4	55				
OR2W1	26692	broad.mit.edu	37	6	29012229	29012229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29012229C>T	ENST00000377175.1	-	1	788	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATGAGATCCACAGGTATTC	0.438																																						ENST00000377175.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						c.(724-726)Gga>Aga		olfactory receptor, family 2, subfamily W, member 1							164.0	154.0	158.0					6																	29012229		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012229C>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.724G>A	6.37:g.29012229C>T	ENSP00000366380:p.Gly242Arg						p.G242R	NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN			1	788	-			242					B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.724G>A	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968522	0.53614	.	.	ENSG00000204704	ENST00000377175	T	0.37584	1.19	4.79	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.51075	0.1653	M	0.86805	2.84	0.32287	N	0.566842	D	0.89917	1.0	D	0.76575	0.988	T	0.56842	-0.7912	10	0.87932	D	0	.	8.7875	0.34830	0.0:0.7615:0.1508:0.0877	.	242	Q9Y3N9	OR2W1_HUMAN	R	242	ENSP00000366380:G242R	ENSP00000366380:G242R	G	-	1	0	OR2W1	29120208	0.000000	0.05858	1.000000	0.80357	0.902000	0.53008	-2.260000	0.01177	2.175000	0.68902	0.591000	0.81541	GGA		0.438	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			18	92	0	0	0	1	0	18	92				
ESCO2	157570	broad.mit.edu	37	8	27634270	27634270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27634270C>T	ENST00000305188.8	+	3	683	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	149					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGCTAAGTATCAACCAAAGTA	0.353									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(445-447)Caa>Taa		establishment of sister chromatid cohesion N-acetyltransferase 2							52.0	49.0	50.0					8																	27634270		2203	4300	6503	SO:0001587	stop_gained	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634270C>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.445C>T	8.37:g.27634270C>T	ENSP00000306999:p.Gln149*					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.Q149*	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	683	+		Ovarian(32;0.000953)	149					B3KW59|Q49AP4	Nonsense_Mutation	SNP	ENST00000305188.8	37	c.445C>T	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985131	0.74474	.	.	ENSG00000171320	ENST00000523566;ENST00000305188	.	.	.	5.93	5.03	0.67393	.	0.509967	0.22280	N	0.062138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-9.2135	13.2915	0.60274	0.0:0.8427:0.1573:0.0	.	.	.	.	X	149	.	ENSP00000306999:Q149X	Q	+	1	0	ESCO2	27690189	0.951000	0.32395	0.983000	0.44433	0.739000	0.42172	3.686000	0.54685	2.818000	0.97014	0.591000	0.81541	CAA		0.353	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		14	39	0	0	0	1	0	14	39				
CBX8	57332	broad.mit.edu	37	17	77769917	77769917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77769917C>G	ENST00000269385.4	-	4	302	c.185G>C	c.(184-186)aGa>aCa	p.R62T	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	62	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCATCTCTCTTTCCCTGGA	0.488																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(184-186)aGa>aCa		chromobox homolog 8							152.0	156.0	155.0					17																	77769917		2203	4300	6503	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769917C>G	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.185G>C	17.37:g.77769917C>G	ENSP00000269385:p.Arg62Thr					CBX8_ENST00000485449.1_5'UTR	p.R62T	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	302	-			62			Chromo.		Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.185G>C	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638327	0.47153	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.56103	0.48;0.48;0.48	4.25	4.25	0.50352	Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000006	T	0.64394	0.2594	L	0.55990	1.75	0.52099	D	0.999943	D	0.69078	0.997	P	0.60789	0.879	T	0.68142	-0.5487	10	0.59425	D	0.04	-6.6847	15.218	0.73285	0.0:1.0:0.0:0.0	.	62	Q9HC52	CBX8_HUMAN	T	62;37;52	ENSP00000269385:R62T;ENSP00000408753:R37T;ENSP00000405058:R52T	ENSP00000269385:R62T	R	-	2	0	CBX8	75384512	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.405000	0.66351	2.094000	0.63399	0.555000	0.69702	AGA		0.488	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		4	245	0	0	0	1	0	4	245				
RAB11A	8766	broad.mit.edu	37	15	66180057	66180057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:66180057C>T	ENST00000261890.2	+	5	658	c.530C>T	c.(529-531)tCt>tTt	p.S177F	RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000569896.1_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.S159F|RAB11A_ENST00000564910.1_Missense_Mutation_p.S107F	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	177					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCATTGTTTCTCAGAAGCAA	0.378																																						ENST00000261890.2																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(529-531)tCt>tTt		RAB11A, member RAS oncogene family							95.0	85.0	89.0					15																	66180057		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66180057C>T	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.530C>T	15.37:g.66180057C>T	ENSP00000261890:p.Ser177Phe					RAB11A_ENST00000569896.1_Intron|RAB11A_ENST00000564910.1_Missense_Mutation_p.S107F|RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.S159F	p.S177F	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN			5	658	+			177					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.530C>T	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204505	0.58234	.	.	ENSG00000103769	ENST00000261890	T	0.79940	-1.32	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	N	0.08118	0	0.80722	D	1	B	0.33000	0.393	B	0.42245	0.381	T	0.77236	-0.2662	10	0.87932	D	0	.	19.3	0.94140	0.0:1.0:0.0:0.0	.	177	P62491	RB11A_HUMAN	F	177	ENSP00000261890:S177F	ENSP00000261890:S177F	S	+	2	0	RAB11A	63967111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	TCT		0.378	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			13	26	0	0	0	1	0	13	26				
MTHFD1	4522	broad.mit.edu	37	14	64882110	64882110	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64882110C>G	ENST00000545908.1	+	5	672	c.443C>G	c.(442-444)tCt>tGt	p.S148C	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S92C			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(274-276)tCt>tGt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						165.0	156.0	159.0					14																	64882110		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64882110C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.443C>G	14.37:g.64882110C>G	ENSP00000438588:p.Ser148Cys					MTHFD1_ENST00000555252.1_Missense_Mutation_p.S72C|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S148C|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S148C	p.S92C	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	5	662	+			92			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.275C>G		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840088	0.32513	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.24350	2.66;2.67;2.67;1.86	4.96	-0.502	0.12004	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.950864	0.08897	N	0.877831	T	0.27697	0.0681	M	0.78456	2.415	0.09310	N	1	P;B;B	0.42556	0.783;0.329;0.176	B;B;B	0.37387	0.243;0.248;0.161	T	0.21211	-1.0252	10	0.87932	D	0	1.2584	7.0357	0.24993	0.1229:0.6555:0.0:0.2217	.	148;92;92	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	C	148;92;148;72	ENSP00000438588:S148C;ENSP00000450560:S92C;ENSP00000216605:S148C;ENSP00000451309:S72C	ENSP00000216605:S92C	S	+	2	0	MTHFD1	63951863	0.200000	0.23398	0.002000	0.10522	0.664000	0.39144	1.109000	0.31135	-0.336000	0.08438	0.455000	0.32223	TCT		0.353	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			26	94	0	0	0	1	0	26	94				
PIGU	128869	broad.mit.edu	37	20	33173312	33173312	+	Silent	SNP	G	G	A	rs367848167		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33173312G>A	ENST00000374820.2	-	8	815	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Silent_p.F285F			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	285					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGAAGAGGCTGAAGTGCTCAA	0.428																																						ENST00000374820.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(793-795)ttC>ttT		phosphatidylinositol glycan anchor biosynthesis, class U		G		0,4406		0,0,2203	163.0	154.0	157.0		855	5.4	1.0	20		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIGU	NM_080476.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		285/436	33173312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33173312G>A	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.795C>T	20.37:g.33173312G>A						PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Silent_p.F285F	p.F265F			Q9H490	PIGU_HUMAN			8	815	-			285					Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37	c.795C>T																																																																																					0.428	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		31	126	0	0	0	1	0	31	126				
PTPRS	5802	broad.mit.edu	37	19	5207951	5207951	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:5207951C>T	ENST00000587303.1	-	36	5859	c.5760G>A	c.(5758-5760)ccG>ccA	p.P1920P	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000262963.6_Silent_p.P1900P|PTPRS_ENST00000372412.4_Silent_p.P1921P|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000353284.2_Silent_p.P1473P|PTPRS_ENST00000592099.1_Silent_p.P1473P|PTPRS_ENST00000357368.4_Silent_p.P1920P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1920	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCACCATGGCCGGCCGCTGGG	0.607																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5761-5763)ccG>ccA		protein tyrosine phosphatase, receptor type, S							127.0	110.0	115.0					19																	5207951		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5207951C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5760G>A	19.37:g.5207951C>T						PTPRS_ENST00000262963.6_Silent_p.P1900P|PTPRS_ENST00000592099.1_Silent_p.P1473P|PTPRS_ENST00000357368.4_Silent_p.P1920P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000587303.1_Silent_p.P1920P|PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000353284.2_Silent_p.P1473P	p.P1921P			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	37	5996	-			1920			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.5763G>A	CCDS45930.1																																																																																				0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			23	116	0	0	0	1	0	23	116				
SCRIB	23513	broad.mit.edu	37	8	144895848	144895848	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144895848C>T	ENST00000320476.3	-	4	411	c.405G>A	c.(403-405)ctG>ctA	p.L135L	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.L54L|SCRIB_ENST00000356994.2_Silent_p.L135L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	135	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACATCATTCAGGGCCAGGT	0.652																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(403-405)ctG>ctA		scribbled planar cell polarity protein							56.0	55.0	55.0					8																	144895848		2203	4300	6503	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895848C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.405G>A	8.37:g.144895848C>T						SCRIB_ENST00000377533.3_Silent_p.L54L|SCRIB_ENST00000320476.3_Silent_p.L135L	p.L135L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		4	411	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		135			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.405G>A	CCDS6411.1																																																																																				0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		13	64	0	0	0	1	0	13	64				
ACAD10	80724	broad.mit.edu	37	12	112159481	112159481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112159481G>A	ENST00000313698.4	+	8	1154	c.999G>A	c.(997-999)atG>atA	p.M333I	ACAD10_ENST00000455480.2_Missense_Mutation_p.M364I|ACAD10_ENST00000549590.1_Missense_Mutation_p.M333I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	333						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCAGGATTATGAAAGCCCTTG	0.348																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1090-1092)atG>atA		acyl-CoA dehydrogenase family, member 10							115.0	108.0	110.0					12																	112159481		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112159481G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.999G>A	12.37:g.112159481G>A	ENSP00000325137:p.Met333Ile					ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.M333I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.M333I	p.M364I	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			9	1269	+			333					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1092G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679224	0.29783	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.29655	1.56;1.56;1.56	5.44	4.36	0.52297	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.252075	0.44902	D	0.000418	T	0.26702	0.0653	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.22683	0.065;0.073;0.026;0.01	B;B;B;B	0.26770	0.073;0.057;0.038;0.011	T	0.08046	-1.0741	10	0.52906	T	0.07	.	14.7847	0.69793	0.0836:0.0:0.9164:0.0	.	364;71;333;333	G3XAJ0;F8W0Q4;Q6JQN1;Q6JQN1-2	.;.;ACD10_HUMAN;.	I	333;333;364;333;71;71	ENSP00000446959:M333I;ENSP00000389813:M364I;ENSP00000325137:M333I	ENSP00000325137:M333I	M	+	3	0	ACAD10	110643864	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.605000	0.61119	2.551000	0.86045	0.591000	0.81541	ATG		0.348	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		11	39	0	0	0	1	0	11	39				
HYDIN	54768	broad.mit.edu	37	16	70926406	70926406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:70926406G>A	ENST00000393567.2	-	56	9425	c.9275C>T	c.(9274-9276)tCa>tTa	p.S3092L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3092					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTAGGTGTTGAAATCCCTAC	0.428																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9274-9276)tCa>tTa		HYDIN, axonemal central pair apparatus protein							58.0	58.0	58.0					16																	70926406		1817	4081	5898	SO:0001583	missense	54768							g.chr16:70926406G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9275C>T	16.37:g.70926406G>A	ENSP00000377197:p.Ser3092Leu						p.S3092L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			56	9425	-		Ovarian(137;0.0654)	3092					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9275C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503605	0.26949	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00892	5.57	4.97	-0.509	0.11977	.	2.818450	0.02593	N	0.100191	T	0.00637	0.0021	N	0.11560	0.145	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47573	-0.9107	10	0.22109	T	0.4	.	0.6865	0.00884	0.4249:0.126:0.2134:0.2357	.	3091	F8WD23	.	L	3092;3091	ENSP00000377197:S3092L	ENSP00000313052:S3091L	S	-	2	0	HYDIN	69483907	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	0.141000	0.16076	0.019000	0.15079	0.436000	0.28706	TCA		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	40	0	0	0	1	0	7	40				
CD200R1	131450	broad.mit.edu	37	3	112648154	112648154	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112648154C>G	ENST00000471858.1	-	3	566	c.334G>C	c.(334-336)Gat>Cat	p.D112H	CD200R1_ENST00000308611.3_Missense_Mutation_p.D135H|CD200R1_ENST00000440122.2_Missense_Mutation_p.D135H|CD200R1_ENST00000295863.4_Missense_Mutation_p.D90H|CD200R1_ENST00000490004.1_Missense_Mutation_p.D112H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	112	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GAATTCTGATCAGGTCTGGAG	0.463																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(334-336)Gat>Cat		CD200 receptor 1							183.0	177.0	179.0					3																	112648154		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648154C>G	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.334G>C	3.37:g.112648154C>G	ENSP00000418928:p.Asp112His					CD200R1_ENST00000440122.2_Missense_Mutation_p.D135H|CD200R1_ENST00000490004.1_Missense_Mutation_p.D112H|CD200R1_ENST00000295863.4_Missense_Mutation_p.D90H|CD200R1_ENST00000308611.3_Missense_Mutation_p.D135H	p.D112H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			3	566	-			112			Ig-like V-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.334G>C	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285046	0.23392	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.47	2.63	0.31362	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.427571	0.23876	N	0.043682	T	0.44746	0.1308	M	0.69358	2.11	0.28169	N	0.928638	D;D;D;D;D	0.89917	1.0;0.997;0.999;0.995;0.999	D;D;D;P;D	0.73708	0.981;0.919;0.952;0.831;0.952	T	0.31779	-0.9931	10	0.22706	T	0.39	.	6.1756	0.20441	0.1487:0.6913:0.0:0.16	.	90;112;135;112;135	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	H	112;135;90;135;112	ENSP00000418928:D112H;ENSP00000311035:D135H;ENSP00000295863:D90H;ENSP00000405733:D135H;ENSP00000418801:D112H	ENSP00000295863:D90H	D	-	1	0	CD200R1	114130844	0.253000	0.23982	0.030000	0.17652	0.025000	0.11179	1.418000	0.34782	0.247000	0.21414	-0.262000	0.10625	GAT		0.463	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		5	64	0	0	0	1	0	5	64				
CD3E	916	broad.mit.edu	37	11	118184489	118184489	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:118184489C>T	ENST00000361763.4	+	7	711	c.420C>T	c.(418-420)atC>atT	p.I140I	CD3E_ENST00000528600.1_Silent_p.I134I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	140					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	ACATCTGCATCACTGGGGGCT	0.572																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(418-420)atC>atT		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						94.0	83.0	86.0					11																	118184489		2200	4296	6496	SO:0001819	synonymous_variant	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118184489C>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.420C>T	11.37:g.118184489C>T						CD3E_ENST00000528600.1_Silent_p.I134I	p.I140I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	7	711	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	140					A8K997	Silent	SNP	ENST00000361763.4	37	c.420C>T	CCDS31685.1																																																																																				0.572	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		19	83	0	0	0	1	0	19	83				
ANXA11	311	broad.mit.edu	37	10	81925936	81925936	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:81925936C>G	ENST00000438331.1	-	9	1244	c.762G>C	c.(760-762)ctG>ctC	p.L254L	ANXA11_ENST00000537102.1_Silent_p.L221L|ANXA11_ENST00000360615.4_Silent_p.L254L|ANXA11_ENST00000535999.1_Silent_p.L254L|ANXA11_ENST00000372231.3_Silent_p.L254L|ANXA11_ENST00000422982.3_Silent_p.L254L|ANXA11_ENST00000265447.4_Silent_p.L254L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	254					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTTCAGATTTCAGATCTTTGA	0.358																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(760-762)ctG>ctC		annexin A11							90.0	88.0	89.0					10																	81925936		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81925936C>G	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.762G>C	10.37:g.81925936C>G						ANXA11_ENST00000537102.1_Silent_p.L221L|ANXA11_ENST00000372231.3_Silent_p.L254L|ANXA11_ENST00000265447.4_Silent_p.L254L|ANXA11_ENST00000535999.1_Silent_p.L254L|ANXA11_ENST00000422982.3_Silent_p.L254L|ANXA11_ENST00000360615.4_Silent_p.L254L	p.L254L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		9	1244	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		254					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.762G>C	CCDS7364.1																																																																																				0.358	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		11	31	0	0	0	1	0	11	31				
MYO18A	399687	broad.mit.edu	37	17	27419947	27419947	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:27419947C>G	ENST00000527372.1	-	33	5179	c.4999G>C	c.(4999-5001)Gat>Cat	p.D1667H	MYO18A_ENST00000529578.1_5'Flank|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1667H|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1630H|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000354329.4_Missense_Mutation_p.D1667H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1667					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCTGGGCATCTGCCAGCAGG	0.602																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4999-5001)Gat>Cat		myosin XVIIIA							107.0	121.0	116.0					17																	27419947		2158	4248	6406	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27419947C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4999G>C	17.37:g.27419947C>G	ENSP00000437073:p.Asp1667His					MYO18A_ENST00000354329.4_Missense_Mutation_p.D1667H|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1667H|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1630H	p.D1667H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		33	5179	-			1667					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4999G>C	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	c	24.5	4.536892	0.85812	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.90444	-1.4;-2.67;-1.4;-1.4	4.57	4.57	0.56435	Myosin tail (1);	0.092170	0.64402	D	0.000001	D	0.95500	0.8538	M	0.83774	2.66	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.964;0.988;0.977;0.995	D	0.96226	0.9164	10	0.87932	D	0	.	17.5458	0.87861	0.0:1.0:0.0:0.0	.	1270;1630;1667;1667	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	H	1667;1630;1630;1667;1667;563;563;1270	ENSP00000346291:D1667H;ENSP00000435932:D1630H;ENSP00000434228:D1667H;ENSP00000437073:D1667H	ENSP00000346291:D1667H	D	-	1	0	MYO18A	24444073	1.000000	0.71417	0.973000	0.42090	0.853000	0.48598	7.314000	0.78988	2.362000	0.80069	0.461000	0.40582	GAT		0.602	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		19	84	0	0	0	1	0	19	84				
SMARCA4	6597	broad.mit.edu	37	19	11098481	11098481	+	Silent	SNP	C	C	T	rs538345417		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11098481C>T	ENST00000429416.3	+	7	1280	c.999C>T	c.(997-999)ccC>ccT	p.P333P	SMARCA4_ENST00000590574.1_Silent_p.P333P|SMARCA4_ENST00000541122.2_Silent_p.P333P|SMARCA4_ENST00000344626.4_Silent_p.P333P|SMARCA4_ENST00000589677.1_Silent_p.P333P|SMARCA4_ENST00000358026.2_Silent_p.P333P|SMARCA4_ENST00000450717.3_Silent_p.P333P|SMARCA4_ENST00000444061.3_Silent_p.P333P|SMARCA4_ENST00000413806.3_Silent_p.P333P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	333					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGTCCCCCGGGCAGCCGG	0.741			"""F, N, Mis"""		NSCLC								C|||	1	0.000199681	0.0008	0.0	5008	,	,		10561	0.0		0.0	False		,,,				2504	0.0					ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(997-999)ccC>ccT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11098481C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.999C>T	19.37:g.11098481C>T						SMARCA4_ENST00000444061.3_Silent_p.P333P|SMARCA4_ENST00000590574.1_Silent_p.P333P|SMARCA4_ENST00000344626.4_Silent_p.P333P|SMARCA4_ENST00000413806.3_Silent_p.P333P|SMARCA4_ENST00000450717.3_Silent_p.P333P|SMARCA4_ENST00000541122.2_Silent_p.P333P|SMARCA4_ENST00000429416.3_Silent_p.P333P|SMARCA4_ENST00000589677.1_Silent_p.P333P	p.P333P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			6	1283	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	333					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.999C>T	CCDS12253.1																																																																																				0.741	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	18	0	0	0	1	0	3	18				
SCN4A	6329	broad.mit.edu	37	17	62034549	62034549	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62034549G>A	ENST00000435607.1	-	13	2425	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L	SCN4A_ENST00000578147.1_Silent_p.L783L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	783					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATGACCATGAGGAAGACGG	0.587																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2347-2349)ctC>ctT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						51.0	50.0	50.0					17																	62034549		2202	4300	6502	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034549G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2349C>T	17.37:g.62034549G>A						SCN4A_ENST00000578147.1_Silent_p.L783L	p.L783L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			13	2425	-			783					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2349C>T	CCDS45761.1																																																																																				0.587	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		17	58	0	0	0	1	0	17	58				
VSIG4	11326	broad.mit.edu	37	X	65253533	65253533	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:65253533G>A	ENST00000374737.4	-	2	303	c.195C>T	c.(193-195)gtC>gtT	p.V65V	VSIG4_ENST00000412866.2_Silent_p.V65V|VSIG4_ENST00000455586.2_Silent_p.V65V	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	65	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAAGATGGTGACAGGGTCTG	0.547																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(193-195)gtC>gtT		V-set and immunoglobulin domain containing 4							120.0	86.0	98.0					X																	65253533		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253533G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.195C>T	X.37:g.65253533G>A						VSIG4_ENST00000374737.4_Silent_p.V65V|VSIG4_ENST00000412866.2_Silent_p.V65V	p.V65V	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	321	-			65			Ig-like 1.		Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.195C>T	CCDS14383.1																																																																																				0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		28	39	0	0	0	1	0	28	39				
SYNE2	23224	broad.mit.edu	37	14	64608224	64608224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64608224C>G	ENST00000344113.4	+	81	15354	c.15142C>G	c.(15142-15144)Caa>Gaa	p.Q5048E	SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1433E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q1433E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1682E|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5048E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4965E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5048					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCAGATATTCAAGAAAAACT	0.353																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4297-4299)Caa>Gaa		spectrin repeat containing, nuclear envelope 2							76.0	78.0	77.0					14																	64608224		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64608224C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15142C>G	14.37:g.64608224C>G	ENSP00000341781:p.Gln5048Glu					SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5048E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1433E|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q5048E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4965E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1682E	p.Q1433E			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	82	15441	+			5048					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4297C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055531	0.75960	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000085	T	0.58793	0.2147	L	0.59436	1.845	0.80722	D	1	B;D;D;D	0.71674	0.268;0.998;0.985;0.998	B;D;D;P	0.80764	0.302;0.994;0.945;0.889	T	0.49113	-0.8973	10	0.35671	T	0.21	.	20.3422	0.98769	0.0:1.0:0.0:0.0	.	1433;4965;5048;5048	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	E	5048;1433;5048;4965;4971;1682;1433	ENSP00000350719:Q5048E;ENSP00000349969:Q1433E;ENSP00000341781:Q5048E;ENSP00000452570:Q4965E;ENSP00000450831:Q1682E;ENSP00000378249:Q1433E	ENSP00000261678:Q4971E	Q	+	1	0	SYNE2	63677977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.315000	0.78998	2.810000	0.96702	0.655000	0.94253	CAA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		10	60	0	0	0	1	0	10	60				
PFKL	5211	broad.mit.edu	37	21	45744491	45744491	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:45744491G>A	ENST00000349048.4	+	17	1823	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	PFKL_ENST00000403390.1_Missense_Mutation_p.D637N	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	590	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTGGGGGCCGACGCCGCCTA	0.647																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1909-1911)Gac>Aac		phosphofructokinase, liver							76.0	70.0	72.0					21																	45744491		2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45744491G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1768G>A	21.37:g.45744491G>A	ENSP00000269848:p.Asp590Asn					PFKL_ENST00000349048.4_Missense_Mutation_p.D590N	p.D637N			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	18	1909	+			590					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1909G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507005	0.85282	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80824	-1.42;-1.42	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91742	0.5405	10	0.87932	D	0	-50.4488	15.126	0.72483	0.0:0.0:1.0:0.0	.	590;637	P17858;P17858-2	K6PL_HUMAN;.	N	590;383;637	ENSP00000269848:D590N;ENSP00000384038:D637N	ENSP00000269848:D590N	D	+	1	0	PFKL	44568919	1.000000	0.71417	0.992000	0.48379	0.457000	0.32468	9.323000	0.96364	1.852000	0.53769	0.467000	0.42956	GAC		0.647	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			28	105	0	0	0	1	0	28	105				
ATP8B4	79895	broad.mit.edu	37	15	50152430	50152430	+	Silent	SNP	G	G	C	rs142681978		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50152430G>C	ENST00000284509.6	-	28	3681	c.3540C>G	c.(3538-3540)acC>acG	p.T1180T	ATP8B4_ENST00000559829.1_Silent_p.T1180T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1180						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGCTGCTCACGGTGTCTGTGG	0.393																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(3538-3540)acC>acG		ATPase, class I, type 8B, member 4							175.0	175.0	175.0					15																	50152430		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152430G>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3540C>G	15.37:g.50152430G>C						ATP8B4_ENST00000559829.1_Silent_p.T1180T	p.T1180T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	28	3681	-		all_lung(180;0.00183)	1180					Q9H727	Silent	SNP	ENST00000284509.6	37	c.3540C>G	CCDS32238.1																																																																																				0.393	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		22	95	0	0	0	1	0	22	95				
PLCH1	23007	broad.mit.edu	37	3	155200226	155200226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:155200226C>T	ENST00000340059.7	-	23	3612	c.3613G>A	c.(3613-3615)Gag>Aag	p.E1205K	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1167K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1167K|PLCH1_ENST00000460012.1_Missense_Mutation_p.E1167K	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1205					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGTTGGTCTCATCAAACTGG	0.458																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3499-3501)Gag>Aag		phospholipase C, eta 1							67.0	67.0	67.0					3																	155200226		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200226C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3613G>A	3.37:g.155200226C>T	ENSP00000345988:p.Glu1205Lys					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1167K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1205K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1167K|PLCH1_ENST00000494598.1_Intron	p.E1167K			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3856	-			1205					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3499G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789011	0.31685	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.56	4.68	0.58851	.	0.999489	0.08101	N	0.997855	T	0.28499	0.0705	L	0.27053	0.805	0.19945	N	0.999946	P;P	0.38767	0.646;0.514	B;B	0.32762	0.152;0.072	T	0.03524	-1.1028	10	0.23891	T	0.37	.	10.1141	0.42581	0.0:0.8512:0.0:0.1488	.	1167;1205	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	K	1167;1205;1167;1167	ENSP00000417502:E1167K;ENSP00000345988:E1205K;ENSP00000335469:E1167K;ENSP00000412977:E1167K	ENSP00000335469:E1167K	E	-	1	0	PLCH1	156682920	0.999000	0.42202	0.282000	0.24776	0.622000	0.37654	2.313000	0.43735	2.614000	0.88457	0.585000	0.79938	GAG		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	69	0	0	0	1	0	7	69				
POLG	5428	broad.mit.edu	37	15	89867048	89867048	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:89867048G>C	ENST00000268124.5	-	12	2488	c.2155C>G	c.(2155-2157)Ctg>Gtg	p.L719V	POLG_ENST00000442287.2_Missense_Mutation_p.L719V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	719					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGCTCACCAGAGCTAGGGGT	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2155-2157)Ctg>Gtg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							107.0	103.0	105.0					15																	89867048		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89867048G>C	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2155C>G	15.37:g.89867048G>C	ENSP00000268124:p.Leu719Val					POLG_ENST00000442287.2_Missense_Mutation_p.L719V	p.L719V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		12	2488	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		719					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2155C>G	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705951	0.30232	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.98455	-4.94;-4.94;-4.05	4.2	4.2	0.49525	.	1.030320	0.07667	N	0.934864	D	0.94056	0.8095	N	0.08118	0	0.33095	D	0.538513	B	0.06786	0.001	B	0.04013	0.001	D	0.86690	0.1922	10	0.14252	T	0.57	-0.36	14.3663	0.66807	0.0:0.0:1.0:0.0	.	719	P54098	DPOG1_HUMAN	V	719;719;175	ENSP00000268124:L719V;ENSP00000399851:L719V;ENSP00000432389:L175V	ENSP00000268124:L719V	L	-	1	2	POLG	87668052	0.145000	0.22656	0.773000	0.31616	0.091000	0.18340	2.957000	0.49137	2.642000	0.89623	0.655000	0.94253	CTG		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		19	98	0	0	0	1	0	19	98				
ASXL3	80816	broad.mit.edu	37	18	31318979	31318979	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31318979A>G	ENST00000269197.5	+	11	1611	c.1611A>G	c.(1609-1611)ttA>ttG	p.L537L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCGATCAGTTAGAAGTCTGTG	0.403																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(1609-1611)ttA>ttG		additional sex combs like 3 (Drosophila)							91.0	86.0	87.0					18																	31318979		1945	4152	6097	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318979A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1611A>G	18.37:g.31318979A>G							p.L537L	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	1611	+			537					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.1611A>G	CCDS45847.1																																																																																				0.403	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	17	0	0	0	1	0	3	17				
PIGC	5279	broad.mit.edu	37	1	172410875	172410875	+	Silent	SNP	G	G	A	rs375726386		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:172410875G>A	ENST00000367728.1	-	1	2351	c.888C>T	c.(886-888)ctC>ctT	p.L296L	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Silent_p.L296L|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Silent_p.L296L			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	296					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAATTTAACTGAGGAACCTGG	0.398																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(886-888)ctC>ctT		phosphatidylinositol glycan anchor biosynthesis, class C		G	,,	3,4403	6.2+/-15.9	0,3,2200	115.0	126.0	122.0		888,,888	2.5	1.0	1		122	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	PIGC,C1orf105	NM_002642.3,NM_139240.3,NM_153747.1	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	296/298,,296/298	172410875	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172410875G>A	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.888C>T	1.37:g.172410875G>A						C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Silent_p.L296L|PIGC_ENST00000258324.1_Silent_p.L296L	p.L296L			Q92535	PIGC_HUMAN			1	2351	-			296					O14491	Silent	SNP	ENST00000367728.1	37	c.888C>T	CCDS1302.1																																																																																				0.398	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		24	137	0	0	0	1	0	24	137				
MTERF4	130916	broad.mit.edu	37	2	242039081	242039081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242039081G>T	ENST00000391980.2	-	2	308	c.250C>A	c.(250-252)Cct>Act	p.P84T	MTERFD2_ENST00000495694.1_Missense_Mutation_p.P84T|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.P84T|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		84					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGTACCACAGGAGTCCCCTGC	0.493																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(250-252)Cct>Act		MTERF domain containing 2							106.0	104.0	104.0					2																	242039081		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242039081G>T																												ENST00000391980.2:c.250C>A	2.37:g.242039081G>T	ENSP00000375840:p.Pro84Thr					MTERFD2_ENST00000495694.1_Missense_Mutation_p.P84T|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.P84T	p.P84T	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	308	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	84					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.250C>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	8.777	0.927436	0.18056	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.46451	0.87;0.95;2.73;1.52;1.54;0.97	3.89	0.0321	0.14174	.	0.565131	0.15022	N	0.284946	T	0.37293	0.0998	L	0.44542	1.39	0.09310	N	1	D;D	0.54772	0.967;0.968	P;P	0.52646	0.705;0.703	T	0.24476	-1.0159	10	0.20046	T	0.44	-1.5702	4.9066	0.13802	0.1899:0.2578:0.5524:0.0	.	84;84	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	T	84;84;84;77;84;63	ENSP00000419315:P84T;ENSP00000385183:P84T;ENSP00000375840:P84T;ENSP00000409023:P77T;ENSP00000385630:P84T;ENSP00000393063:P63T	ENSP00000241527:P84T	P	-	1	0	MTERFD2	241687754	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.386000	0.07370	-0.106000	0.12110	0.591000	0.81541	CCT		0.493	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			29	72	1	0	2.2171e-23	1	2.36373e-23	29	72				
DPH5	51611	broad.mit.edu	37	1	101456010	101456010	+	Missense_Mutation	SNP	G	G	A	rs201302775	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101456010G>A	ENST00000370109.3	-	8	924	c.812C>T	c.(811-813)tCc>tTc	p.S271F	DPH5_ENST00000427040.2_Missense_Mutation_p.S32F|DPH5_ENST00000342173.7_Missense_Mutation_p.S270F|DPH5_ENST00000370105.3_5'UTR|AC093157.1_ENST00000593496.1_Missense_Mutation_p.E2K|DPH5_ENST00000488176.1_Missense_Mutation_p.S271F	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	271					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TTCTGGTATGGAAAACAGACT	0.393													G|||	4	0.000798722	0.003	0.0	5008	,	,		22393	0.0		0.0	False		,,,				2504	0.0					ENST00000593496.1																			0											c.(4-6)Gaa>Aaa				G	PHE/SER,PHE/SER,PHE/SER	11,4001		0,11,1995	143.0	135.0	137.0		812,809,812	5.8	1.0	1		137	0,8348		0,0,4174	yes	missense,missense,missense	DPH5	NM_001077394.1,NM_001077395.1,NM_015958.2	155,155,155	0,11,6169	AA,AG,GG		0.0,0.2742,0.089	benign,benign,benign	271/286,270/285,271/286	101456010	11,12349	2006	4174	6180	SO:0001583	missense	51611							g.chr1:101456010G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.812C>T	1.37:g.101456010G>A	ENSP00000359127:p.Ser271Phe					DPH5_ENST00000342173.7_Missense_Mutation_p.S270F|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.S271F|DPH5_ENST00000370109.3_Missense_Mutation_p.S271F|DPH5_ENST00000427040.2_Missense_Mutation_p.S32F	p.E2K							1	250	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.4G>A	CCDS41358.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.54	2.269036	0.40095	0.002742	0.0	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	5.85	0.93711	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.357746	0.33272	N	0.005097	T	0.51432	0.1674	L	0.45051	1.395	0.43073	D	0.994718	B;B	0.25563	0.129;0.129	B;B	0.35182	0.197;0.14	T	0.53655	-0.8408	9	0.56958	D	0.05	-9.0	17.9364	0.89013	0.0:0.0:1.0:0.0	.	271;270	Q9H2P9;A8JZY6	DPH5_HUMAN;.	F	271;270;220;32;270;271	.	ENSP00000339630:S270F	S	-	2	0	DPH5	101228598	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.783000	0.75078	2.773000	0.95371	0.655000	0.94253	TCC		0.393	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		17	76	0	0	0	1	0	17	76				
ZNF700	90592	broad.mit.edu	37	19	12059635	12059635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059635C>G	ENST00000254321.5	+	4	939	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.Q248E	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGCTACCCTTCAAATACATGA	0.348																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(742-744)Caa>Gaa		zinc finger protein 700							46.0	45.0	46.0					19																	12059635		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059635C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.796C>G	19.37:g.12059635C>G	ENSP00000254321:p.Gln266Glu					ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q266E|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	p.Q248E			Q9H0M5	ZN700_HUMAN			3	1160	+			266					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.742C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	12.18	1.860355	0.32884	.	.	ENSG00000196757	ENST00000254321	T	0.11821	2.74	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.04387	-0.21	0.09310	N	1	P	0.37352	0.591	B	0.40741	0.339	T	0.36601	-0.9741	9	0.11485	T	0.65	.	5.3596	0.16081	0.3305:0.6694:0.0:0.0	.	266	Q9H0M5	ZN700_HUMAN	E	266	ENSP00000254321:Q266E	ENSP00000254321:Q266E	Q	+	1	0	ZNF700	11920635	0.000000	0.05858	0.053000	0.19242	0.966000	0.64601	-0.981000	0.03766	0.623000	0.30267	0.305000	0.20034	CAA		0.348	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		7	36	0	0	0	1	0	7	36				
OBSCN	84033	broad.mit.edu	37	1	228495222	228495222	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228495222C>G	ENST00000422127.1	+	46	12500	c.12456C>G	c.(12454-12456)ctC>ctG	p.L4152L	OBSCN_ENST00000284548.11_Silent_p.L4152L|OBSCN_ENST00000570156.2_Silent_p.L5109L|OBSCN_ENST00000366707.4_Silent_p.L1786L|OBSCN_ENST00000366709.4_Silent_p.L1271L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4152	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTCCCTCAGGGTCACAG	0.652																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15325-15327)ctC>ctG		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							21.0	31.0	28.0					1																	228495222		2166	4248	6414	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495222C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12456C>G	1.37:g.228495222C>G						OBSCN_ENST00000284548.11_Silent_p.L4152L|OBSCN_ENST00000366709.4_Silent_p.L1271L|OBSCN_ENST00000366707.4_Silent_p.L1786L|OBSCN_ENST00000422127.1_Silent_p.L4152L	p.L5109L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			57	15401	+		Prostate(94;0.0405)	4152					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15327C>G	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	5	0	0	0	1	0	8	5				
PDE1A	5136	broad.mit.edu	37	2	183095807	183095807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:183095807C>T	ENST00000410103.1	-	6	600	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PDE1A_ENST00000456212.1_Missense_Mutation_p.E173K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E157K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E173K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E69K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E173K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E173K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E139K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E157K|PDE1A_ENST00000482538.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	173					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGACTATGCTCTCCACTTGCT	0.338																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(517-519)Gag>Aag		phosphodiesterase 1A, calmodulin-dependent							137.0	138.0	137.0					2																	183095807		2203	4299	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183095807C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.517G>A	2.37:g.183095807C>T	ENSP00000387037:p.Glu173Lys					PDE1A_ENST00000358139.2_Missense_Mutation_p.E173K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E69K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.E173K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E173K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E157K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E173K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E139K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E157K	p.E173K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		5	717	-			173					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.517G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994987	0.93167	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.42;-0.43;-0.42;-0.43;-0.43;-0.43;-0.43;-0.43	5.93	5.93	0.95920	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.203652	0.51477	D	0.000096	T	0.65386	0.2686	L	0.51422	1.61	0.58432	D	0.999999	B;P;B;B;B	0.40553	0.071;0.721;0.014;0.321;0.117	B;B;B;B;B	0.38755	0.065;0.281;0.017;0.281;0.138	T	0.68614	-0.5362	10	0.66056	D	0.02	.	19.3377	0.94326	0.0:1.0:0.0:0.0	.	69;139;173;157;173	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	173;139;69;157;173;157;173;173;173	ENSP00000410309:E173K;ENSP00000329112:E139K;ENSP00000439938:E69K;ENSP00000386767:E157K;ENSP00000331574:E173K;ENSP00000309269:E157K;ENSP00000387037:E173K;ENSP00000350858:E173K;ENSP00000408874:E173K	ENSP00000331574:E173K	E	-	1	0	PDE1A	182804052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.814000	0.96858	0.591000	0.81541	GAG		0.338	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			24	58	0	0	0	1	0	24	58				
USP4	7375	broad.mit.edu	37	3	49321937	49321937	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49321937G>C	ENST00000265560.4	-	18	2398	c.2352C>G	c.(2350-2352)ctC>ctG	p.L784L	USP4_ENST00000351842.4_Silent_p.L737L	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	784	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGGTGGTGAAGAGCTCGATGC	0.572																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2209-2211)ctC>ctG		ubiquitin specific peptidase 4 (proto-oncogene)							141.0	121.0	128.0					3																	49321937		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321937G>C	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2352C>G	3.37:g.49321937G>C						USP4_ENST00000265560.4_Silent_p.L784L	p.L737L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2219	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	784					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.2211C>G	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	8.838	0.941436	0.18281	.	.	ENSG00000114316	ENST00000431357	T	0.03035	4.07	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00697	-1.1605	7	0.56958	D	0.05	-14.4162	13.2715	0.60164	0.0768:0.0:0.9232:0.0	.	.	.	.	V	523	ENSP00000399079:L523V	ENSP00000399079:L523V	L	-	1	0	USP4	49296941	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.039000	0.41193	1.411000	0.46957	0.655000	0.94253	CTT		0.572	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		30	81	0	0	0	1	0	30	81				
DSC2	1824	broad.mit.edu	37	18	28666558	28666558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:28666558G>A	ENST00000280904.6	-	7	1366	c.923C>T	c.(922-924)tCa>tTa	p.S308L	DSC2_ENST00000251081.6_Missense_Mutation_p.S308L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	308	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGCTGAGATGATGTTGTGGT	0.428																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(922-924)tCa>tTa		desmocollin 2							295.0	259.0	271.0					18																	28666558		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28666558G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.923C>T	18.37:g.28666558G>A	ENSP00000280904:p.Ser308Leu					DSC2_ENST00000251081.6_Missense_Mutation_p.S308L	p.S308L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		7	1366	-			308			Cadherin 2.			Missense_Mutation	SNP	ENST00000280904.6	37	c.923C>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896545	0.72639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.52983	0.64;0.64	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50205	0.1602	L	0.39692	1.235	0.58432	D	0.999999	P;P	0.38535	0.635;0.582	P;B	0.44811	0.461;0.331	T	0.51212	-0.8734	9	0.59425	D	0.04	.	18.2061	0.89854	0.0:0.0:1.0:0.0	.	308;308	Q02487;Q02487-2	DSC2_HUMAN;.	L	308;308;74;321	ENSP00000251081:S308L;ENSP00000280904:S308L	ENSP00000251081:S308L	S	-	2	0	DSC2	26920556	0.820000	0.29190	0.321000	0.25320	0.975000	0.68041	4.168000	0.58216	2.593000	0.87608	0.591000	0.81541	TCA		0.428	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		22	107	0	0	0	1	0	22	107				
KDM5A	5927	broad.mit.edu	37	12	427289	427289	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:427289C>T	ENST00000399788.2	-	19	3242	c.2880G>A	c.(2878-2880)aaG>aaA	p.K960K	KDM5A_ENST00000382815.4_Silent_p.K960K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	960					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTAGGCAGACCTTAGCCTTTT	0.473			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(2878-2880)aaG>aaA		lysine (K)-specific demethylase 5A							113.0	105.0	108.0					12																	427289		1882	4121	6003	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:427289C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2880G>A	12.37:g.427289C>T						KDM5A_ENST00000382815.4_Silent_p.K960K	p.K960K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			19	3242	-			960					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.2880G>A	CCDS41736.1																																																																																				0.473	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		21	99	0	0	0	1	0	21	99				
RAD54L2	23132	broad.mit.edu	37	3	51669689	51669689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:51669689G>A	ENST00000409535.2	+	9	1348	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R102K	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	408	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGATGTACAGACTCCTCACT	0.493																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1222-1224)aGa>aAa		RAD54-like 2 (S. cerevisiae)							151.0	132.0	138.0					3																	51669689		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51669689G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1223G>A	3.37:g.51669689G>A	ENSP00000386520:p.Arg408Lys					RAD54L2_ENST00000296477.3_Missense_Mutation_p.R102K	p.R408K	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	9	1348	+			408			Helicase ATP-binding.		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1223G>A	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865337	0.91511	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93019	-3.15;-3.15	5.54	5.54	0.83059	DEAD-like helicase (2);SNF2-related (1);	0.080840	0.64402	D	0.000001	D	0.93822	0.8024	M	0.68593	2.085	0.58432	D	0.999999	B	0.18741	0.03	B	0.33890	0.172	D	0.91452	0.5182	10	0.72032	D	0.01	0.0264	18.4549	0.90717	0.0:0.0:1.0:0.0	.	408	Q9Y4B4	ARIP4_HUMAN	K	408;102	ENSP00000386520:R408K;ENSP00000296477:R102K	ENSP00000296477:R102K	R	+	2	0	RAD54L2	51644729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.781000	0.99029	2.618000	0.88619	0.655000	0.94253	AGA		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		6	36	0	0	0	1	0	6	36				
C5orf15	56951	broad.mit.edu	37	5	133295705	133295705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:133295705G>A	ENST00000231512.3	-	2	348	c.146C>T	c.(145-147)tCa>tTa	p.S49L	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	49						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ATCAGTCCGTGATACAACTGA	0.368																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(145-147)tCa>tTa		chromosome 5 open reading frame 15							51.0	50.0	50.0					5																	133295705		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133295705G>A	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.146C>T	5.37:g.133295705G>A	ENSP00000231512:p.Ser49Leu					C5orf15_ENST00000507191.1_5'UTR	p.S49L	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	348	-			49					B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.146C>T	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459557	0.43736	.	.	ENSG00000113583	ENST00000231512	.	.	.	5.07	4.2	0.49525	.	1.754480	0.03498	N	0.217603	T	0.44244	0.1284	L	0.36672	1.1	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.32798	-0.9893	9	0.51188	T	0.08	0.9525	10.8458	0.46743	0.088:0.0:0.912:0.0	.	49	Q8NC54	KCT2_HUMAN	L	49	.	ENSP00000231512:S49L	S	-	2	0	C5orf15	133323604	0.011000	0.17503	0.002000	0.10522	0.306000	0.27790	1.954000	0.40362	1.505000	0.48720	0.650000	0.86243	TCA		0.368	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		5	20	0	0	0	1	0	5	20				
SHROOM3	57619	broad.mit.edu	37	4	77659919	77659919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:77659919C>T	ENST00000296043.6	+	5	1546	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	198					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCAGCTCCTCTACTAGTGAC	0.517																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(592-594)tCt>tTt		shroom family member 3							110.0	117.0	115.0					4																	77659919		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77659919C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.593C>T	4.37:g.77659919C>T	ENSP00000296043:p.Ser198Phe					SHROOM3_ENST00000473602.1_3'UTR	p.S198F	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1546	+			198					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.593C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478867	0.63849	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.41400	1.0	6.06	5.21	0.72293	.	0.081539	0.52532	N	0.000063	T	0.65133	0.2662	M	0.72894	2.215	0.51012	D	0.9999	D;D	0.76494	0.999;0.998	D;P	0.85130	0.997;0.864	T	0.69851	-0.5033	10	0.87932	D	0	-19.103	16.7339	0.85442	0.1305:0.8695:0.0:0.0	.	22;198	B4E244;Q8TF72	.;SHRM3_HUMAN	F	198;73	ENSP00000296043:S198F	ENSP00000296043:S198F	S	+	2	0	SHROOM3	77878943	1.000000	0.71417	0.893000	0.35052	0.630000	0.37929	7.729000	0.84864	1.556000	0.49512	-0.181000	0.13052	TCT		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		20	102	0	0	0	1	0	20	102				
CAPRIN1	4076	broad.mit.edu	37	11	34074029	34074029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:34074029C>T	ENST00000341394.4	+	2	251	c.62C>T	c.(61-63)tCg>tTg	p.S21L	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S21L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S21L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	21					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CCACCGCCGTCGGGTTCCTCC	0.716																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(61-63)tCg>tTg		cell cycle associated protein 1							9.0	12.0	11.0					11																	34074029		1935	3950	5885	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34074029C>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.62C>T	11.37:g.34074029C>T	ENSP00000340329:p.Ser21Leu					CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S21L	p.S21L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			2	251	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	21					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.62C>T	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454582	0.26161	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820	T;T;T;T;T	0.50277	2.3;2.3;0.75;2.3;2.3	4.18	1.08	0.20341	.	1.269860	0.05855	N	0.621924	T	0.30634	0.0771	N	0.22421	0.69	0.22266	N	0.999246	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18085	-1.0348	10	0.26408	T	0.33	-2.295	3.6293	0.08126	0.1948:0.5861:0.0:0.2191	.	21;21	Q14444;Q14444-2	CAPR1_HUMAN;.	L	21	ENSP00000340329:S21L;ENSP00000374296:S21L;ENSP00000431373:S21L;ENSP00000434150:S21L;ENSP00000434204:S21L	ENSP00000340329:S21L	S	+	2	0	CAPRIN1	34030605	.	.	0.963000	0.40424	0.021000	0.10359	.	.	0.009000	0.14813	-0.268000	0.10319	TCG		0.716	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		11	23	0	0	0	1	0	11	23				
USH2A	7399	broad.mit.edu	37	1	216260110	216260110	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:216260110G>C	ENST00000307340.3	-	24	5324	c.4938C>G	c.(4936-4938)gtC>gtG	p.V1646V	USH2A_ENST00000366943.2_Silent_p.V1646V|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1646	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGAAAGACTCCTGTGT	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4936-4938)gtC>gtG		Usher syndrome 2A (autosomal recessive, mild)							64.0	60.0	61.0					1																	216260110		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216260110G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4938C>G	1.37:g.216260110G>C		HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1646V|RP11-22M7.2_ENST00000442606.1_RNA	p.V1646V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	24	5324	-			1646			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4938C>G	CCDS31025.1																																																																																				0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	27	0	0	0	1	0	7	27				
C5orf51	285636	broad.mit.edu	37	5	41907899	41907899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41907899G>C	ENST00000381647.2	+	2	181	c.162G>C	c.(160-162)gaG>gaC	p.E54D	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	54										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGAGAAGAGAAAGAATGTT	0.363																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(160-162)gaG>gaC		chromosome 5 open reading frame 51							55.0	54.0	54.0					5																	41907899		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41907899G>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.162G>C	5.37:g.41907899G>C	ENSP00000371061:p.Glu54Asp					C5orf51_ENST00000505931.2_3'UTR	p.E54D	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			2	181	+			54					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.162G>C	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	8.854	0.945203	0.18356	.	.	ENSG00000205765	ENST00000381647	T	0.29917	1.55	5.77	-0.932	0.10435	.	0.286130	0.37393	N	0.002110	T	0.09113	0.0225	N	0.08118	0	0.25418	N	0.988296	B	0.02656	0.0	B	0.01281	0.0	T	0.17961	-1.0352	10	0.08837	T	0.75	-0.0953	0.7839	0.01045	0.2537:0.2411:0.3042:0.201	.	54	A6NDU8	CE051_HUMAN	D	54	ENSP00000371061:E54D	ENSP00000371061:E54D	E	+	3	2	C5orf51	41943656	0.968000	0.33430	0.996000	0.52242	0.996000	0.88848	0.049000	0.14099	-0.050000	0.13356	0.655000	0.94253	GAG		0.363	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		4	9	0	0	0	1	0	4	9				
MEPCE	56257	broad.mit.edu	37	7	100028728	100028728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100028728C>T	ENST00000310512.2	+	1	1475	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	363					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCGACATCGCAAACGTCG	0.637																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1087-1089)Cgc>Tgc		methylphosphate capping enzyme							89.0	97.0	94.0					7																	100028728		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028728C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1087C>T	7.37:g.100028728C>T	ENSP00000308546:p.Arg363Cys					MEPCE_ENST00000414441.1_5'UTR	p.R363C	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1475	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		363					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.1087C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698922	0.68501	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.73	4.73	0.59995	.	0.137823	0.48767	D	0.000164	T	0.63271	0.2497	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.67304	-0.5704	9	0.62326	D	0.03	-9.0646	15.2352	0.73422	0.0:1.0:0.0:0.0	.	363	Q7L2J0	MEPCE_HUMAN	C	363	.	ENSP00000308546:R363C	R	+	1	0	MEPCE	99866664	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.969000	0.49232	2.461000	0.83175	0.462000	0.41574	CGC		0.637	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			19	208	0	0	0	1	0	19	208				
ZNF700	90592	broad.mit.edu	37	19	12059292	12059292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059292C>G	ENST00000254321.5	+	4	596	c.453C>G	c.(451-453)caC>caG	p.H151Q	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.H133Q	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACTGGACACAAGGCATATG	0.403																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(397-399)caC>caG		zinc finger protein 700							177.0	171.0	173.0					19																	12059292		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059292C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.453C>G	19.37:g.12059292C>G	ENSP00000254321:p.His151Gln					ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.H151Q|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	p.H133Q			Q9H0M5	ZN700_HUMAN			3	817	+			151					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.399C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	6.392	0.440349	0.12104	.	.	ENSG00000196757	ENST00000254321	T	0.06142	3.34	0.606	-1.21	0.09524	.	.	.	.	.	T	0.07098	0.0180	N	0.20845	0.615	0.21105	N	0.999784	D	0.64830	0.994	P	0.60117	0.869	T	0.20505	-1.0273	9	0.46703	T	0.11	.	0.1537	0.00096	0.2523:0.2551:0.2517:0.2409	.	151	Q9H0M5	ZN700_HUMAN	Q	151	ENSP00000254321:H151Q	ENSP00000254321:H151Q	H	+	3	2	ZNF700	11920292	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-2.470000	0.00991	-1.194000	0.02684	0.195000	0.17529	CAC		0.403	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		45	204	0	0	0	1	0	45	204				
ACOXL	55289	broad.mit.edu	37	2	111562899	111562899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:111562899G>A	ENST00000389811.4	+	9	904	c.680G>A	c.(679-681)aGa>aAa	p.R227K	ACOXL_ENST00000439055.1_Missense_Mutation_p.R227K|ACOXL_ENST00000340561.4_Missense_Mutation_p.R227K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	227					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAGTGCAAGATTCAATGCC	0.463																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(679-681)aGa>aAa		acyl-CoA oxidase-like							157.0	138.0	145.0					2																	111562899		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111562899G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.680G>A	2.37:g.111562899G>A	ENSP00000374461:p.Arg227Lys					ACOXL_ENST00000439055.1_Missense_Mutation_p.R227K|ACOXL_ENST00000340561.4_Missense_Mutation_p.R227K	p.R227K			Q9NUZ1	ACOXL_HUMAN			9	904	+			227					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.680G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034915|4.034915	0.75617|0.75617	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000433706|ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	.|T;T;T;T	.|0.72167	.|-0.63;-0.63;-0.63;-0.63	5.96|5.96	5.09|5.09	0.68999|0.68999	.|.	.|0.056439	.|0.64402	.|D	.|0.000002	D|D	0.83778|0.83778	0.5328|0.5328	M|M	0.81497|0.81497	2.545|2.545	0.36224|0.36224	D|D	0.8522|0.8522	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.83275	.|0.991;0.996;0.994	D|D	0.88846|0.88846	0.3316|0.3316	5|10	.|0.72032	.|D	.|0.01	-22.8565|-22.8565	12.7792|12.7792	0.57466|0.57466	0.0785:0.0:0.9215:0.0|0.0785:0.0:0.9215:0.0	.|.	.|227;227;227	.|E9PB20;Q9NUZ1-2;Q9NUZ1	.|.;.;ACOXL_HUMAN	N|K	2|227;227;78;227;65	.|ENSP00000374461:R227K;ENSP00000407761:R227K;ENSP00000343717:R227K;ENSP00000387832:R65K	.|ENSP00000343717:R227K	D|R	+|+	1|2	0|0	ACOXL|ACOXL	111279370|111279370	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.554000|0.554000	0.35429|0.35429	3.597000|3.597000	0.54031|0.54031	1.535000|1.535000	0.49220|0.49220	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		17	79	0	0	0	1	0	17	79				
CREB5	9586	broad.mit.edu	37	7	28857687	28857687	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:28857687G>C	ENST00000357727.2	+	10	1644		c.e10-1		CREB5_ENST00000396298.2_Splice_Site|CREB5_ENST00000396300.2_Splice_Site|CREB5_ENST00000409603.1_Splice_Site|CREB5_ENST00000396299.2_Splice_Site	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCTCTTTTAGAATGAAGTGT	0.393																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.e10-1		cAMP responsive element binding protein 5							93.0	89.0	90.0					7																	28857687		2203	4300	6503	SO:0001630	splice_region_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28857687G>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1255-1G>C	7.37:g.28857687G>C						CREB5_ENST00000396300.2_Splice_Site|CREB5_ENST00000396299.2_Splice_Site|CREB5_ENST00000396298.2_Splice_Site|CREB5_ENST00000409603.1_Splice_Site		NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			10	1644	+								A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Splice_Site	SNP	ENST00000357727.2	37		CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098854	0.76870	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CREB5	28824212	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.687000	0.98667	2.937000	0.99478	0.650000	0.86243	.		0.393	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	Intron	21	42	0	0	0	1	0	21	42				
ZNF532	55205	broad.mit.edu	37	18	56587478	56587478	+	Silent	SNP	C	C	G	rs190522065		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56587478C>G	ENST00000336078.4	+	4	2735	c.1959C>G	c.(1957-1959)ctC>ctG	p.L653L	ZNF532_ENST00000591808.1_Silent_p.L653L|ZNF532_ENST00000591083.1_Silent_p.L653L|ZNF532_ENST00000591230.1_Silent_p.L653L|ZNF532_ENST00000589288.1_Silent_p.L653L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAAGAACCTCGTTTTTTACA	0.493																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1957-1959)ctC>ctG		zinc finger protein 532							78.0	65.0	70.0					18																	56587478		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587478C>G	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1959C>G	18.37:g.56587478C>G						ZNF532_ENST00000591808.1_Silent_p.L653L|ZNF532_ENST00000591083.1_Silent_p.L653L|ZNF532_ENST00000591230.1_Silent_p.L653L|ZNF532_ENST00000589288.1_Silent_p.L653L	p.L653L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2735	+			653					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1959C>G	CCDS11969.1																																																																																				0.493	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		25	83	0	0	0	1	0	25	83				
PDX1	3651	broad.mit.edu	37	13	28494641	28494641	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28494641G>T	ENST00000381033.4	+	1	485	c.366G>T	c.(364-366)atG>atT	p.M122I	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TCCCATGGATGAAGTCTACCA	0.682																																						ENST00000381033.4																			0											c.(364-366)atG>atT		pancreatic and duodenal homeobox 1							17.0	17.0	17.0					13																	28494641		2193	4271	6464	SO:0001583	missense	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28494641G>T	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.366G>T	13.37:g.28494641G>T	ENSP00000370421:p.Met122Ile					PDX1-AS1_ENST00000499662.2_RNA	p.M122I	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	1	485	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	122					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	c.366G>T	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928867	0.92389	.	.	ENSG00000139515	ENST00000381033	D	0.92299	-3.01	4.63	4.63	0.57726	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.80746	2.51	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.96792	0.9583	10	0.87932	D	0	.	17.4452	0.87577	0.0:0.0:1.0:0.0	.	122	P52945	PDX1_HUMAN	I	122	ENSP00000370421:M122I	ENSP00000370421:M122I	M	+	3	0	PDX1	27392641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.220000	0.95180	2.102000	0.63906	0.561000	0.74099	ATG		0.682	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209		5	12	1	0	0.014758	1	0.0148854	5	12				
TOB2	10766	broad.mit.edu	37	22	41832836	41832836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41832836G>C	ENST00000327492.3	-	2	1220	c.514C>G	c.(514-516)Cag>Gag	p.Q172E		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	172					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGGGCTGAGCGGAGCGG	0.622																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(514-516)Cag>Gag		transducer of ERBB2, 2							69.0	68.0	68.0					22																	41832836		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832836G>C	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.514C>G	22.37:g.41832836G>C	ENSP00000331305:p.Gln172Glu						p.Q172E	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1220	-			172					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.514C>G	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743132	0.89663	.	.	ENSG00000183864	ENST00000327492	T	0.48201	0.82	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.72118	2.19	0.80722	D	1	D	0.61080	0.989	P	0.55577	0.779	T	0.66184	-0.5987	10	0.66056	D	0.02	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	172	Q14106	TOB2_HUMAN	E	172	ENSP00000331305:Q172E	ENSP00000331305:Q172E	Q	-	1	0	TOB2	40162782	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.028000	0.93712	2.837000	0.97791	0.655000	0.94253	CAG		0.622	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		14	55	0	0	0	1	0	14	55				
RNF146	81847	broad.mit.edu	37	6	127607815	127607815	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:127607815G>A	ENST00000368314.1	+	3	481	c.57G>A	c.(55-57)agG>agA	p.R19R	RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000610153.1_Silent_p.R19R|RNF146_ENST00000309649.3_Silent_p.R18R|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Silent_p.R18R	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	19					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CTACAAACAGGAAAGCGAACG	0.388																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(55-57)agG>agA		ring finger protein 146							149.0	123.0	132.0					6																	127607815		2203	4300	6503	SO:0001819	synonymous_variant	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127607815G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.57G>A	6.37:g.127607815G>A						RNF146_ENST00000309649.3_Silent_p.R18R|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Silent_p.R18R	p.R19R	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	481	+			19					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	c.57G>A	CCDS56449.1																																																																																				0.388	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		16	76	0	0	0	1	0	16	76				
WBSCR27	155368	broad.mit.edu	37	7	73254880	73254880	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73254880C>A	ENST00000297873.4	-	4	302		c.e4-1			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GAGCCCGCAGCTGGGGTAGGG	0.662																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.e4-1		Williams Beuren syndrome chromosome region 27							13.0	16.0	15.0					7																	73254880		2143	4233	6376	SO:0001630	splice_region_variant	155368							g.chr7:73254880C>A	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.253-1G>T	7.37:g.73254880C>A								NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			4	302	-		Lung NSC(55;0.159)							Splice_Site	SNP	ENST00000297873.4	37		CCDS5561.1	.	.	.	.	.	.	.	.	.	.	C	6.988	0.552333	0.13374	.	.	ENSG00000165171	ENST00000297873	.	.	.	4.45	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9692	0.41743	0.2029:0.7971:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WBSCR27	72892816	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	4.704000	0.61831	0.943000	0.37553	0.462000	0.41574	.		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	Intron	7	26	1	0	0.00448238	1	0.00453084	7	26				
PTPN12	5782	broad.mit.edu	37	7	77210788	77210788	+	Missense_Mutation	SNP	G	G	A	rs372728704		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:77210788G>A	ENST00000248594.6	+	3	525	c.253G>A	c.(253-255)Gat>Aat	p.D85N	PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	85	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCCTTCACAAGATTCAGACTA	0.294																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(253-255)Gat>Aat		protein tyrosine phosphatase, non-receptor type 12							73.0	73.0	73.0					7																	77210788		2199	4296	6495	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77210788G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.253G>A	7.37:g.77210788G>A	ENSP00000248594:p.Asp85Asn					PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	p.D85N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			3	525	+			85			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.253G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593888	0.86953	.	.	ENSG00000127947	ENST00000248594	D	0.83419	-1.72	5.84	5.84	0.93424	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.102085	0.64402	D	0.000003	D	0.87653	0.6231	L	0.43554	1.36	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	D	0.87366	0.2347	10	0.56958	D	0.05	.	20.1392	0.98050	0.0:0.0:1.0:0.0	.	85	Q05209	PTN12_HUMAN	N	85	ENSP00000248594:D85N	ENSP00000248594:D85N	D	+	1	0	PTPN12	77048724	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.885000	0.87282	2.751000	0.94390	0.591000	0.81541	GAT		0.294	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			9	27	0	0	0	1	0	9	27				
GIGYF1	64599	broad.mit.edu	37	7	100284283	100284283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100284283G>C	ENST00000275732.5	-	7	1892	c.683C>G	c.(682-684)tCc>tGc	p.S228C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGGCTGGCGGAGCGCCAGCG	0.692																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(682-684)tCc>tGc		GRB10 interacting GYF protein 1							30.0	37.0	35.0					7																	100284283		2190	4279	6469	SO:0001583	missense	64599							g.chr7:100284283G>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.683C>G	7.37:g.100284283G>C	ENSP00000275732:p.Ser228Cys					GIGYF1_ENST00000471340.2_Intron	p.S228C	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1892	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		228					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.683C>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.79	2.937667	0.52972	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.05	0.47172	.	0.813418	0.11234	N	0.585312	T	0.76579	0.4007	L	0.36672	1.1	0.39339	D	0.96555	B	0.02656	0.0	B	0.01281	0.0	T	0.71523	-0.4567	10	0.59425	D	0.04	-5.7768	11.0151	0.47685	0.0:0.1882:0.8118:0.0	.	228	O75420	PERQ1_HUMAN	C	228	ENSP00000275732:S228C	ENSP00000275732:S228C	S	-	2	0	GIGYF1	100122219	0.995000	0.38212	0.764000	0.31436	0.799000	0.45148	2.848000	0.48278	1.274000	0.44362	0.563000	0.77884	TCC		0.692	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		29	117	0	0	0	1	0	29	117				
KIAA0319	9856	broad.mit.edu	37	6	24578429	24578429	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:24578429C>G	ENST00000378214.3	-	9	1938	c.1414G>C	c.(1414-1416)Gaa>Caa	p.E472Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E427Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.E463Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	472	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCGTTTATTTCTTCCCAATGA	0.373																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1387-1389)Gaa>Caa		KIAA0319							116.0	111.0	112.0					6																	24578429		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24578429C>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1414G>C	6.37:g.24578429C>G	ENSP00000367459:p.Glu472Gln					KIAA0319_ENST00000543707.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E427Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E472Q	p.E463Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			10	2029	-			472			PKD 2.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1387G>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909411	0.92107	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	4.12	4.12	0.48240	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.070956	0.52532	D	0.000071	T	0.21468	0.0517	L	0.50993	1.605	0.43195	D	0.995033	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72982	0.975;0.964;0.979	T	0.01386	-1.1368	10	0.39692	T	0.17	-8.3253	16.5482	0.84454	0.0:1.0:0.0:0.0	.	472;463;472	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	472;463;427;472;472	ENSP00000439700:E472Q;ENSP00000442403:E463Q;ENSP00000401086:E427Q;ENSP00000367459:E472Q;ENSP00000437656:E472Q	ENSP00000367459:E472Q	E	-	1	0	KIAA0319	24686408	1.000000	0.71417	0.420000	0.26596	0.779000	0.44077	4.175000	0.58263	2.105000	0.64084	0.555000	0.69702	GAA		0.373	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		9	44	0	0	0	1	0	9	44				
GPR78	27201	broad.mit.edu	37	4	8588802	8588802	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGTGCCCTTCGTCACCGTGA	0.657																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(802-804)ttC>ttT		G protein-coupled receptor 78							36.0	36.0	36.0					4																	8588802		2203	4299	6502	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588802C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.804C>T	4.37:g.8588802C>T						GPR78_ENST00000509216.1_3'UTR	p.F268F	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			3	1221	+			268					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.804C>T	CCDS3403.1																																																																																				0.657	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			14	47	0	0	0	1	0	14	47				
MTF2	22823	broad.mit.edu	37	1	93576131	93576131	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:93576131C>T	ENST00000370298.4	+	3	523	c.234C>T	c.(232-234)atC>atT	p.I78I	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Silent_p.I78I|MTF2_ENST00000545708.1_5'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	78	Tudor.				chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GCTGCTTCATCATATTTGAAG	0.299																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(232-234)atC>atT		metal response element binding transcription factor 2							74.0	78.0	77.0					1																	93576131		2203	4300	6503	SO:0001819	synonymous_variant	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93576131C>T	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.234C>T	1.37:g.93576131C>T						MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000370303.4_Silent_p.I78I|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000471953.1_3'UTR	p.I78I	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	3	523	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	78					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	ENST00000370298.4	37	c.234C>T	CCDS742.1																																																																																				0.299	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		8	53	0	0	0	1	0	8	53				
ZFHX3	463	broad.mit.edu	37	16	72828997	72828997	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72828997G>A	ENST00000268489.5	-	9	8256	c.7584C>T	c.(7582-7584)atC>atT	p.I2528I	ZFHX3_ENST00000397992.5_Silent_p.I1614I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2528					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGGTAGGGGATTAGCTGAG	0.577																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7582-7584)atC>atT		zinc finger homeobox 3																																				SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828997G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7584C>T	16.37:g.72828997G>A						ZFHX3_ENST00000397992.5_Silent_p.I1614I	p.I2528I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8256	-		Ovarian(137;0.13)	2528					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.7584C>T	CCDS10908.1																																																																																				0.577	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	104	0	0	0	1	0	4	104				
THUMPD3	25917	broad.mit.edu	37	3	9426356	9426356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426356G>A	ENST00000345094.3	+	10	1842	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.W503*|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.W503*|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	503						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAACTCTTTGGCAATGCAAA	0.398																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1507-1509)tGg>tAg		THUMP domain containing 3							218.0	185.0	196.0					3																	9426356		2203	4300	6503	SO:0001587	stop_gained	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426356G>A	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1508G>A	3.37:g.9426356G>A	ENSP00000339532:p.Trp503*					THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.W503*|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.W503*|SETD5-AS1_ENST00000468186.1_RNA	p.W503*	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1842	+	Medulloblastoma(99;0.227)		503					Q9H8V6|Q9NVC1|Q9UFS3	Nonsense_Mutation	SNP	ENST00000345094.3	37	c.1508G>A	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891113	0.72524	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	.	.	.	5.53	1.51	0.23008	.	1.269920	0.04800	N	0.433267	.	.	.	.	.	.	0.37365	D	0.911374	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1709	3.4853	0.07617	0.1486:0.1334:0.5801:0.1378	.	.	.	.	X	503	.	ENSP00000339532:W503X	W	+	2	0	THUMPD3	9401356	1.000000	0.71417	0.915000	0.36163	0.029000	0.11900	3.421000	0.52742	0.297000	0.22615	-0.300000	0.09419	TGG		0.398	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		16	99	0	0	0	1	0	16	99				
CASP6	839	broad.mit.edu	37	4	110618874	110618874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:110618874C>T	ENST00000265164.2	-	3	211	c.134G>A	c.(133-135)gGa>gAa	p.G45E	CASP6_ENST00000505486.1_Missense_Mutation_p.G45E|CASP6_ENST00000352981.3_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	45					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TAAAGCAATTCCTCTCCTCCT	0.408																																						ENST00000265164.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(133-135)gGa>gAa		caspase 6, apoptosis-related cysteine peptidase							171.0	164.0	167.0					4																	110618874		2203	4300	6503	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110618874C>T	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.134G>A	4.37:g.110618874C>T	ENSP00000265164:p.Gly45Glu					CASP6_ENST00000352981.3_Intron|CASP6_ENST00000505486.1_Missense_Mutation_p.G45E	p.G45E	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	3	211	-		Hepatocellular(203;0.217)	45					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.134G>A	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036625	0.93630	.	.	ENSG00000138794	ENST00000265164;ENST00000503684;ENST00000505486	T;T;T	0.38077	1.92;1.92;1.16	6.03	6.03	0.97812	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84549	0.0643	10	0.87932	D	0	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	45	P55212	CASP6_HUMAN	E	45;27;45	ENSP00000265164:G45E;ENSP00000427669:G27E;ENSP00000424080:G45E	ENSP00000265164:G45E	G	-	2	0	CASP6	110838323	1.000000	0.71417	0.972000	0.41901	0.867000	0.49689	6.891000	0.75639	2.861000	0.98227	0.655000	0.94253	GGA		0.408	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		11	44	0	0	0	1	0	11	44				
SLC4A10	57282	broad.mit.edu	37	2	162813634	162813634	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:162813634G>C	ENST00000446997.1	+	20	2770	c.2677G>C	c.(2677-2679)Gaa>Caa	p.E893Q	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E863Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E863Q|SLC4A10_ENST00000375514.5_Missense_Mutation_p.E874Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E893Q	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	893					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ACTGGAATCAGAATGCTCAGC	0.473																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2620-2622)Gaa>Caa		solute carrier family 4, sodium bicarbonate transporter, member 10							60.0	63.0	62.0					2																	162813634		2154	4293	6447	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813634G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2677G>C	2.37:g.162813634G>C	ENSP00000393066:p.Glu893Gln					SLC4A10_ENST00000446997.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E863Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E863Q	p.E874Q	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			20	2907	+			893					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2620G>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583933	0.86748	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.28	5.28	0.74379	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	M	0.75884	2.315	0.80722	D	1	D;D;P	0.56035	0.974;0.974;0.784	P;P;P	0.62813	0.907;0.907;0.547	D	0.88996	0.3418	10	0.52906	T	0.07	.	19.2695	0.94003	0.0:0.0:1.0:0.0	.	874;863;893	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	Q	874;863;863;862;893;893;892	ENSP00000364664:E874Q;ENSP00000395797:E863Q;ENSP00000272716:E863Q;ENSP00000393066:E893Q;ENSP00000404486:E893Q	ENSP00000272716:E863Q	E	+	1	0	SLC4A10	162521880	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.813000	0.99286	2.608000	0.88229	0.655000	0.94253	GAA		0.473	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		14	28	0	0	0	1	0	14	28				
IGSF10	285313	broad.mit.edu	37	3	151166890	151166890	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:151166890C>G	ENST00000282466.3	-	4	878	c.879G>C	c.(877-879)ctG>ctC	p.L293L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	293					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGAATAGTCAGGCTCTTTG	0.478																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(877-879)ctG>ctC		immunoglobulin superfamily, member 10							140.0	136.0	137.0					3																	151166890		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166890C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.879G>C	3.37:g.151166890C>G							p.L293L	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	878	-			293					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.879G>C	CCDS3160.1																																																																																				0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		20	101	0	0	0	1	0	20	101				
FRY	10129	broad.mit.edu	37	13	32653152	32653152	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:32653152C>G	ENST00000380250.3	+	2	748	c.252C>G	c.(250-252)atC>atG	p.I84M		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	84						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGATTCGTATCATTATGGCAG	0.408																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(250-252)atC>atG		furry homolog (Drosophila)							177.0	173.0	174.0					13																	32653152		1939	4140	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32653152C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.252C>G	13.37:g.32653152C>G	ENSP00000369600:p.Ile84Met						p.I84M	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	2	748	+		Lung SC(185;0.0271)	84					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.252C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335486	0.60853	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.22945	1.93	5.83	5.83	0.93111	.	0.110309	0.64402	D	0.000010	T	0.31071	0.0785	M	0.71581	2.175	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	T	0.03249	-1.1056	10	0.38643	T	0.18	.	14.3017	0.66357	0.0:0.9295:0.0:0.0705	.	84	Q5TBA9	FRY_HUMAN	M	84;81	ENSP00000369600:I84M	ENSP00000369600:I84M	I	+	3	3	FRY	31551152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.300000	0.33436	2.770000	0.95276	0.655000	0.94253	ATC		0.408	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		47	146	0	0	0	1	0	47	146				
ITGAM	3684	broad.mit.edu	37	16	31341829	31341829	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31341829C>T	ENST00000287497.8	+	28	3254	c.3179C>T	c.(3178-3180)tCg>tTg	p.S1060L	ITGAM_ENST00000544665.3_Missense_Mutation_p.S1061L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1060					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCACAGACCTCGCATAACCAC	0.607																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(3181-3183)tCg>tTg		integrin, alpha M (complement component 3 receptor 3 subunit)							59.0	62.0	61.0					16																	31341829		2089	4221	6310	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341829C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3179C>T	16.37:g.31341829C>T	ENSP00000287497:p.Ser1060Leu					ITGAM_ENST00000287497.8_Missense_Mutation_p.S1060L	p.S1061L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			28	3253	+			1060					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.3182C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557452	0.45590	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.51325	0.71;0.71	5.13	1.85	0.25348	.	.	.	.	.	T	0.27798	0.0684	N	0.17248	0.465	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.16453	-1.0402	9	0.34782	T	0.22	.	5.7965	0.18389	0.1851:0.6277:0.0:0.1872	.	1060;1060	Q4VAK1;P11215	.;ITAM_HUMAN	L	1061;1060	ENSP00000441691:S1061L;ENSP00000287497:S1060L	ENSP00000287497:S1060L	S	+	2	0	ITGAM	31249330	0.000000	0.05858	0.001000	0.08648	0.629000	0.37895	0.107000	0.15375	0.573000	0.29400	0.453000	0.30009	TCG		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		7	32	0	0	0	1	0	7	32				
MUC16	94025	broad.mit.edu	37	19	9063295	9063295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9063295G>A	ENST00000397910.4	-	3	24354	c.24151C>T	c.(24151-24153)Cat>Tat	p.H8051Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8053	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAGGATGAGTTTTCTCT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24151-24153)Cat>Tat		mucin 16, cell surface associated							124.0	115.0	118.0					19																	9063295		1982	4172	6154	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063295G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24151C>T	19.37:g.9063295G>A	ENSP00000381008:p.His8051Tyr						p.H8051Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24354	-			8053			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24151C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.126	0.578843	0.13686	.	.	ENSG00000181143	ENST00000397910	T	0.26810	1.71	3.15	3.15	0.36227	.	.	.	.	.	T	0.23451	0.0567	L	0.51422	1.61	.	.	.	P	0.49253	0.921	B	0.40534	0.332	T	0.42327	-0.9458	8	0.87932	D	0	.	10.0479	0.42197	0.0:0.0:1.0:0.0	.	8051	B5ME49	.	Y	8051	ENSP00000381008:H8051Y	ENSP00000381008:H8051Y	H	-	1	0	MUC16	8924295	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.608000	0.05641	2.081000	0.62600	0.508000	0.49915	CAT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	65	0	0	0	1	0	23	65				
CEP290	80184	broad.mit.edu	37	12	88483083	88483083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:88483083G>A	ENST00000552810.1	-	31	4098	c.3755C>T	c.(3754-3756)gCt>gTt	p.A1252V	CEP290_ENST00000309041.7_Missense_Mutation_p.A1254V|CEP290_ENST00000397838.3_Missense_Mutation_p.A312V|CEP290_ENST00000547691.2_Missense_Mutation_p.A312V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1252					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCCAAACGAGCATAATAGAG	0.438																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(3754-3756)gCt>gTt		centrosomal protein 290kDa							139.0	130.0	132.0					12																	88483083		1870	4111	5981	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88483083G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3755C>T	12.37:g.88483083G>A	ENSP00000448012:p.Ala1252Val					CEP290_ENST00000397838.3_Missense_Mutation_p.A312V|CEP290_ENST00000309041.7_Missense_Mutation_p.A1254V|CEP290_ENST00000547691.2_Missense_Mutation_p.A312V	p.A1252V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			31	4098	-			1252					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3755C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984504	0.93044	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.64260	0.48;-0.09;-0.09;0.48	5.6	5.6	0.85130	.	0.144445	0.64402	D	0.000008	T	0.75817	0.3901	M	0.66939	2.045	0.53688	D	0.999976	D	0.67145	0.996	P	0.61722	0.893	T	0.71777	-0.4490	10	0.29301	T	0.29	.	19.612	0.95610	0.0:0.0:1.0:0.0	.	1252	O15078	CE290_HUMAN	V	312;1252;1254;312	ENSP00000446905:A312V;ENSP00000448012:A1252V;ENSP00000308021:A1254V;ENSP00000380938:A312V	ENSP00000308021:A1254V	A	-	2	0	CEP290	87007214	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.512000	0.98008	2.651000	0.90000	0.585000	0.79938	GCT		0.438	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		6	27	0	0	0	1	0	6	27				
SLC6A19	340024	broad.mit.edu	37	5	1219197	1219197	+	Silent	SNP	G	G	A	rs139510678		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1219197G>A	ENST00000304460.10	+	9	1409	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATCCCCCCGAAGTGGCCCA	0.602																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1351-1353)ccG>ccA		solute carrier family 6 (neutral amino acid transporter), member 19		G		1,4403	2.1+/-5.4	0,1,2201	145.0	123.0	131.0		1353	-7.9	0.0	5	dbSNP_134	131	0,8598		0,0,4299	no	coding-synonymous	SLC6A19	NM_001003841.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		451/635	1219197	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219197G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1353G>A	5.37:g.1219197G>A							p.P451P	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1409	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		451					A8K446	Silent	SNP	ENST00000304460.10	37	c.1353G>A	CCDS34130.1																																																																																				0.602	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	17	0	0	0	1	0	3	17				
GJC3	349149	broad.mit.edu	37	7	99521203	99521203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99521203C>T	ENST00000312891.2	-	2	804	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	269					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ctttgtttttcctgggctaag	0.418																																						ENST00000312891.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(805-807)Gaa>Aaa		gap junction protein, gamma 3, 30.2kDa							106.0	98.0	101.0					7																	99521203		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521203C>T	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.805G>A	7.37:g.99521203C>T	ENSP00000325775:p.Glu269Lys						p.E269K	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN			2	804	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		269					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.805G>A	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060194	0.19987	.	.	ENSG00000176402	ENST00000312891	D	0.97888	-4.59	0.235	0.235	0.15431	.	.	.	.	.	D	0.91988	0.7462	N	0.08118	0	0.18873	N	0.999981	P	0.34587	0.458	B	0.39152	0.292	D	0.87043	0.2142	8	0.22109	T	0.4	.	.	.	.	.	269	Q8NFK1	CXG3_HUMAN	K	269	ENSP00000325775:E269K	ENSP00000325775:E269K	E	-	1	0	GJC3	99359139	0.420000	0.25457	0.413000	0.26509	0.419000	0.31324	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAA		0.418	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		7	38	0	0	0	1	0	7	38				
ITCH	83737	broad.mit.edu	37	20	33080393	33080393	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33080393G>A	ENST00000262650.6	+	24	2666	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	ITCH_ENST00000535650.1_Missense_Mutation_p.D693N|ITCH_ENST00000374864.4_Missense_Mutation_p.D803N			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	844	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGGATTTGCTGATCTCATGGG	0.353																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2407-2409)Gat>Aat		itchy E3 ubiquitin protein ligase							118.0	115.0	116.0					20																	33080393		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33080393G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2530G>A	20.37:g.33080393G>A	ENSP00000262650:p.Asp844Asn					ITCH_ENST00000535650.1_Missense_Mutation_p.D693N|ITCH_ENST00000262650.6_Missense_Mutation_p.D844N	p.D803N	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			23	2620	+			844			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.2407G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381633	0.95967	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.55930	0.49;0.49;0.49	5.35	5.35	0.76521	HECT (4);	0.046438	0.85682	D	0.000000	T	0.57902	0.2085	N	0.11698	0.16	0.80722	D	1	D;B;P	0.89917	1.0;0.08;0.669	D;B;B	0.80764	0.994;0.051;0.418	T	0.64867	-0.6306	10	0.62326	D	0.03	.	18.8501	0.92224	0.0:0.0:1.0:0.0	.	755;844;803	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	N	803;693;844	ENSP00000363998:D803N;ENSP00000445608:D693N;ENSP00000262650:D844N	ENSP00000262650:D844N	D	+	1	0	ITCH	32544054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.778000	0.95560	0.650000	0.86243	GAT		0.353	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			17	67	0	0	0	1	0	17	67				
CCDC108	255101	broad.mit.edu	37	2	219890755	219890755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219890755C>T	ENST00000341552.5	-	14	2421	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	CCDC108_ENST00000441968.1_Missense_Mutation_p.D780N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D780N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	780						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGACATCTAGGGAATAC	0.612																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2338-2340)Gat>Aat		coiled-coil domain containing 108							73.0	67.0	69.0					2																	219890755		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890755C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2338G>A	2.37:g.219890755C>T	ENSP00000340776:p.Asp780Asn					CCDC108_ENST00000441968.1_Missense_Mutation_p.D780N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D780N	p.D780N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2421	-		Renal(207;0.0915)	780					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2338G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964428	0.53507	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05319	3.46;3.46;3.46	4.87	3.01	0.34805	.	0.138585	0.32884	N	0.005522	T	0.14442	0.0349	L	0.59436	1.845	0.80722	D	1	D	0.58268	0.982	P	0.56751	0.805	T	0.01262	-1.1402	10	0.48119	T	0.1	-11.4824	10.6882	0.45856	0.0:0.7954:0.1313:0.0733	.	780	Q6ZU64	CC108_HUMAN	N	780	ENSP00000340776:D780N;ENSP00000413377:D780N;ENSP00000409117:D780N	ENSP00000340776:D780N	D	-	1	0	CCDC108	219598999	1.000000	0.71417	0.987000	0.45799	0.174000	0.22865	1.463000	0.35277	1.266000	0.44231	0.561000	0.74099	GAT		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	58	0	0	0	1	0	7	58				
DENND3	22898	broad.mit.edu	37	8	142204271	142204271	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:142204271G>C	ENST00000262585.2	+	23	3814	c.3536G>C	c.(3535-3537)aGa>aCa	p.R1179T	DENND3_ENST00000424248.1_Missense_Mutation_p.R1127T|DENND3_ENST00000523308.1_Missense_Mutation_p.R229T|DENND3_ENST00000519811.1_Missense_Mutation_p.R1259T	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1179					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAGGACAGATACGTGCTG	0.577																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(3775-3777)aGa>aCa		DENN/MADD domain containing 3							91.0	81.0	84.0					8																	142204271		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142204271G>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3536G>C	8.37:g.142204271G>C	ENSP00000262585:p.Arg1179Thr					DENND3_ENST00000262585.2_Missense_Mutation_p.R1179T|DENND3_ENST00000424248.1_Missense_Mutation_p.R1127T|DENND3_ENST00000523308.1_Missense_Mutation_p.R229T	p.R1259T			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		23	3846	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		1179					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.3776G>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.115723|5.115723	0.94339|0.94339	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	.|T;T;T;T	.|0.36157	.|1.56;1.56;1.56;1.27	5.29|5.29	5.29|5.29	0.74685|0.74685	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62950|0.62950	0.2470|0.2470	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.66878|0.66878	-0.5812|-0.5812	5|10	.|0.87932	.|D	.|0	-29.3511|-29.3511	18.9279|18.9279	0.92552|0.92552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1259;1179	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	H|T	1183|1179;1127;1259;229	.|ENSP00000262585:R1179T;ENSP00000410594:R1127T;ENSP00000428714:R1259T;ENSP00000430912:R229T	.|ENSP00000262585:R1179T	Q|R	+|+	3|2	2|0	DENND3|DENND3	142273453|142273453	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	9.132000|9.132000	0.94455|0.94455	2.482000|2.482000	0.83794|0.83794	0.591000|0.591000	0.81541|0.81541	CAG|AGA		0.577	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		14	54	0	0	0	1	0	14	54				
TRPM3	80036	broad.mit.edu	37	9	73151096	73151096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:73151096C>T	ENST00000377110.3	-	25	5140	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1660K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1482K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1492K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1505K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1637K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1495K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1495K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1505K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1492K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1658					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTGGCGCGCTCTATCTTGGGA	0.547																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4897-4899)Gag>Aag		transient receptor potential cation channel, subfamily M, member 3							407.0	391.0	397.0					9																	73151096		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151096C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4897G>A	9.37:g.73151096C>T	ENSP00000366314:p.Glu1633Lys					TRPM3_ENST00000377105.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1492K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1482K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1495K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1495K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1505K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1637K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1660K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1505K	p.E1633K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	5140	-			1658					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4897G>A	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.505785|4.505785	0.85282|0.85282	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.61859|.	0.18;0.08;0.08;0.07;0.19;0.07;0.09;0.08;0.08;0.17|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;D|.	0.67145|.	0.996;0.969;0.963;0.993;0.996;0.996;0.993|.	D;P;B;D;D;D;D|.	0.76071|.	0.987;0.683;0.444;0.956;0.981;0.981;0.956|.	T|T	0.50988|0.50988	-0.8762|-0.8762	10|5	0.45353|.	T|.	0.12|.	-25.6087|-25.6087	19.9981|19.9981	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1633;1623;1637;1495;1492;1605;1492|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	K|K	1633;1505;1495;1492;1637;1492;1492;1505;1495;1660|1481	ENSP00000366314:E1633K;ENSP00000366310:E1505K;ENSP00000354066:E1495K;ENSP00000366309:E1492K;ENSP00000350140:E1637K;ENSP00000386127:E1492K;ENSP00000379581:E1492K;ENSP00000379587:E1505K;ENSP00000350791:E1495K;ENSP00000389542:E1660K|.	ENSP00000350140:E1637K|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72340916|72340916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.294000|7.294000	0.78760|0.78760	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.547	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		108	510	0	0	0	1	0	108	510				
MKL2	57496	broad.mit.edu	37	16	14328027	14328027	+	Missense_Mutation	SNP	C	C	T	rs369314141|rs34690014		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:14328027C>T	ENST00000341243.5	+	7	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S	MKL2_ENST00000573051.1_Missense_Mutation_p.P189S|MKL2_ENST00000572567.1_Missense_Mutation_p.P229S|MKL2_ENST00000574045.1_Missense_Mutation_p.P240S|MKL2_ENST00000571589.1_Missense_Mutation_p.P240S|MKL2_ENST00000318282.5_Missense_Mutation_p.P240S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	229					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCAACAGTTCCTGAATTCTT	0.468																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(718-720)Cct>Tct		MKL/myocardin-like 2		C	SER/PRO	1,4393	2.1+/-5.4	0,1,2196	155.0	145.0	148.0		718	4.9	1.0	16		148	0,8600		0,0,4300	no	missense	MKL2	NM_014048.3	74	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	240/1050	14328027	1,12993	2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14328027C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.685C>T	16.37:g.14328027C>T	ENSP00000345841:p.Pro229Ser					MKL2_ENST00000573051.1_Missense_Mutation_p.P189S|MKL2_ENST00000572567.1_Missense_Mutation_p.P229S|MKL2_ENST00000574045.1_Missense_Mutation_p.P240S|MKL2_ENST00000318282.5_Missense_Mutation_p.P240S|MKL2_ENST00000341243.5_Missense_Mutation_p.P229S	p.P240S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			9	890	+			229					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.718C>T		.	.	.	.	.	.	.	.	.	.	C	13.83	2.354313	0.41700	2.28E-4	0.0	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.91	4.95	0.65309	.	0.180058	0.48767	D	0.000168	T	0.31420	0.0796	N	0.11284	0.12	0.49213	D	0.999763	B;B;B;B	0.28667	0.084;0.051;0.219;0.084	B;B;B;B	0.21917	0.037;0.008;0.031;0.015	T	0.12553	-1.0543	9	0.30078	T	0.28	-7.6556	12.7906	0.57530	0.0:0.9236:0.0:0.0764	.	189;240;229;240	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	S	240;229;229	.	ENSP00000339086:P240S	P	+	1	0	MKL2	14235528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.308000	0.43690	2.813000	0.96785	0.655000	0.94253	CCT		0.468	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		24	94	0	0	0	1	0	24	94				
SP1	6667	broad.mit.edu	37	12	53777156	53777156	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:53777156G>A	ENST00000327443.4	+	3	1523	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	SP1_ENST00000426431.2_Silent_p.Q468Q	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	475	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TCCAAGTTCAGAACCCACAAG	0.552																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1402-1404)caG>caA		Sp1 transcription factor							167.0	164.0	165.0					12																	53777156		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777156G>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1425G>A	12.37:g.53777156G>A						SP1_ENST00000327443.4_Silent_p.Q475Q	p.Q468Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1464	+			475			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.1404G>A	CCDS8857.1																																																																																				0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			23	140	0	0	0	1	0	23	140				
SLC9A9	285195	broad.mit.edu	37	3	143212502	143212502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:143212502C>A	ENST00000316549.6	-	11	1516	c.1308G>T	c.(1306-1308)atG>atT	p.M436I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	436					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCTGAAAACATCATCATGT	0.403																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1306-1308)atG>atT		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							127.0	123.0	125.0					3																	143212502		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143212502C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1308G>T	3.37:g.143212502C>A	ENSP00000320246:p.Met436Ile						p.M436I	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			11	1516	-			436					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1308G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680310	0.88542	.	.	ENSG00000181804	ENST00000316549	T	0.15139	2.45	5.3	5.3	0.74995	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.43152	1.355	0.58432	D	0.999999	D	0.54964	0.969	D	0.70227	0.968	T	0.01375	-1.1371	10	0.44086	T	0.13	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	436	Q8IVB4	SL9A9_HUMAN	I	436	ENSP00000320246:M436I	ENSP00000320246:M436I	M	-	3	0	SLC9A9	144695192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.429000	0.80309	2.631000	0.89168	0.585000	0.79938	ATG		0.403	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		15	59	1	0	1.3612e-06	1	1.40477e-06	15	59				
ARHGAP10	79658	broad.mit.edu	37	4	148787899	148787899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:148787899C>T	ENST00000336498.3	+	7	873	c.634C>T	c.(634-636)Cat>Tat	p.H212Y		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TACCTTCTATCATCAGGGCCA	0.338											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(634-636)Cat>Tat		Rho GTPase activating protein 10							129.0	121.0	124.0					4																	148787899		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148787899C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.634C>T	4.37:g.148787899C>T	ENSP00000336923:p.His212Tyr		OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1720		p.H212Y	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	7	873	+	all_hematologic(180;0.151)	Renal(17;0.0166)	212			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.634C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953853	0.73902	.	.	ENSG00000071205	ENST00000336498	T	0.04809	3.55	5.93	5.93	0.95920	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	M	0.86740	2.835	0.80722	D	1	P	0.38020	0.615	B	0.36186	0.219	T	0.00953	-1.1502	10	0.87932	D	0	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	212	A1A4S6	RHG10_HUMAN	Y	212	ENSP00000336923:H212Y	ENSP00000336923:H212Y	H	+	1	0	ARHGAP10	149007349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.047000	0.76599	2.826000	0.97356	0.655000	0.94253	CAT		0.338	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		16	57	0	0	0	1	0	16	57				
SIGLEC8	27181	broad.mit.edu	37	19	51955672	51955672	+	Silent	SNP	C	C	T	rs377081569		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51955672C>T	ENST00000321424.3	-	7	1527	c.1461G>A	c.(1459-1461)ttG>ttA	p.L487L	SIGLEC8_ENST00000430817.1_Silent_p.L378L|SIGLEC8_ENST00000340550.5_Silent_p.L394L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	487					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGATTCCTCAAACAGGCCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19126	0.001		0.0	False		,,,				2504	0.0					ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1459-1461)ttG>ttA		sialic acid binding Ig-like lectin 8		C		1,4405		0,1,2202	127.0	116.0	119.0		1461	-0.2	0.0	19		119	0,8600		0,0,4300	no	coding-synonymous	SIGLEC8	NM_014442.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		487/500	51955672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955672C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1461G>A	19.37:g.51955672C>T						SIGLEC8_ENST00000430817.1_Silent_p.L378L|SIGLEC8_ENST00000340550.5_Silent_p.L394L	p.L487L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1527	-		all_neural(266;0.0199)	487					Q7Z728	Silent	SNP	ENST00000321424.3	37	c.1461G>A	CCDS33086.1																																																																																				0.532	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		38	73	0	0	0	1	0	38	73				
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.E519K(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064336	TGFBR2	M		c.(1555-1557)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							71.0	61.0	64.0					3																	30732942		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732942G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1555G>A	3.37:g.30732942G>A	ENSP00000295754:p.Glu519Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	p.E519K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1937	+			519			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1555G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278299	0.95459	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.63580	-0.05;-0.05	5.91	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095303	0.64402	D	0.000001	T	0.72112	0.3420	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.75736	-0.3213	10	0.87932	D	0	.	16.3682	0.83343	0.0:0.0:0.8671:0.1329	.	519;544	P37173;D2JYI1	TGFR2_HUMAN;.	K	519;544;349	ENSP00000295754:E519K;ENSP00000351905:E544K	ENSP00000295754:E519K	E	+	1	0	TGFBR2	30707946	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG		0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			9	50	0	0	0	1	0	9	50				
ATP6V0B	533	broad.mit.edu	37	1	44442910	44442910	+	Intron	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:44442910delC	ENST00000472174.2	+	7	984				ATP6V0B_ENST00000236067.4_Intron|B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000356836.6_5'Flank|ATP6V0B_ENST00000532642.1_Frame_Shift_Del_p.P205fs|ATP6V0B_ENST00000498664.1_Intron|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000471859.2_Intron	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTTGGGAAGCCTCTGTGTCC	0.502																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(613-615)ctfs		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							50.0	53.0	52.0					1																	44442910		2203	4300	6503	SO:0001627	intron_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442910delC	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.591+22C>-	1.37:g.44442910delC						ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron	p.P205fs			Q99437	VATO_HUMAN			7	710	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	110					D3DPY5|Q6IB32	Frame_Shift_Del	DEL	ENST00000472174.2	37	c.613delC	CCDS505.1																																																																																				0.502	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		12	60						12	60	---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110201819	110201819	+	Intron	DEL	G	G	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:110201819delG	ENST00000369836.4	+	7	876				GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000369833.1_Frame_Shift_Del_p.K177fs|GSTM4_ENST00000336075.5_Intron	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCTACATAaagaataacttgc	0.468																																						ENST00000369833.1																			0				endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(529-531)aafs		glutathione S-transferase mu 4	Glutathione(DB00143)																																			SO:0001627	intron_variant	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110201819delG	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.567+87G>-	1.37:g.110201819delG						GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000495742.1_Intron	p.K177fs			Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	1445	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Frame_Shift_Del	DEL	ENST00000369836.4	37	c.531delG	CCDS807.1																																																																																				0.468	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		7	65						7	65	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231069590	231069590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231069590G>C	ENST00000366661.4	-	9	925	c.918C>G	c.(916-918)ttC>ttG	p.F306L	TTC13_ENST00000414259.1_Missense_Mutation_p.F253L|TTC13_ENST00000366662.4_Missense_Mutation_p.F253L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	306										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGCTTCTTTGAAGGATTCAA	0.303																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(916-918)ttC>ttG		tetratricopeptide repeat domain 13							56.0	60.0	58.0					1																	231069590		2203	4299	6502	SO:0001583	missense	79573						binding	g.chr1:231069590G>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.918C>G	1.37:g.231069590G>C	ENSP00000355621:p.Phe306Leu					TTC13_ENST00000366662.4_Missense_Mutation_p.F253L|TTC13_ENST00000414259.1_Missense_Mutation_p.F253L	p.F306L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	925	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	306					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.918C>G	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.314628|4.314628	0.81358|0.81358	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.58652|.	0.34;0.32;0.32|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61148|.	0.2324|.	L|L	0.41824|0.41824	1.3|1.3	0.58432|0.58432	D|D	0.999999|0.999999	P;P;D;D|.	0.69078|.	0.955;0.91;0.99;0.997|.	P;P;P;P|.	0.58721|.	0.755;0.524;0.592;0.844|.	T|.	0.63554|.	-0.6611|.	10|.	0.59425|0.87932	D|D	0.04|0	-11.0339|-11.0339	13.0036|13.0036	0.58690|0.58690	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	231;253;253;306|.	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;.;TTC13_HUMAN|.	L|X	306;253;253|166	ENSP00000355621:F306L;ENSP00000355622:F253L;ENSP00000416631:F253L|.	ENSP00000355621:F306L|ENSP00000430280:S252X	F|S	-|-	3|2	2|0	TTC13|TTC13	229136213|229136213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.654000|3.654000	0.54453|0.54453	2.657000|2.657000	0.90304|0.90304	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.303	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		11	54	0	0	0	1	0	11	54				
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	3						3	3	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		4	9						4	9	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161966456	161966456	+	Intron	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:161966456delC	ENST00000366898.1	-	9	1186				PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Frame_Shift_Del_p.R366fs|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366894.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ttattttgttcttcgttgtcc	0.373																																						ENST00000366892.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1096-1098)aafs		parkin RBR E3 ubiquitin protein ligase							49.0	46.0	47.0					6																	161966456		876	1991	2867	SO:0001627	intron_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161966456delC		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1083+3429G>-	6.37:g.161966456delC						PARK2_ENST00000366897.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366898.1_Intron	p.R366fs			O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	10	1192	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	0		R -> W (in dbSNP:rs56092260).			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Frame_Shift_Del	DEL	ENST00000366898.1	37	c.1097delG	CCDS5281.1																																																																																				0.373	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			10	28						10	28	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		5	1						5	1	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104753026	104753027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:104753026_104753027insT	ENST00000311117.3	+	27	5368_5369	c.4823_4824insT	c.(4822-4827)cattttfs	p.HF1608fs	KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.HF1608fs|KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.HF1566fs|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1608	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACTCCAGGGCATTTTTTGCCCT	0.535																																						ENST00000334877.4																			0											c.(4696-4698)cttfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104753026_104753027insT	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4829dupT	7.37:g.104753032_104753032dupT	ENSP00000312379:p.His1608fs					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.L1608fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.L1608fs	p.L1566fs							26	5231_5232	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.4697_4698insT	CCDS34723.1																																																																																				0.535	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			18	117						18	117	---	---	---	---
UNG	7374	broad.mit.edu	37	12	109536374	109536375	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:109536374_109536375insC	ENST00000242576.2	+	2	376_377	c.270_271insC	c.(271-273)cccfs	p.P91fs	UNG_ENST00000336865.2_Frame_Shift_Ins_p.P82fs	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCGCAACGTGCCCGTGGGCTT	0.604								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(241-246)gtccgtfs	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase																																				SO:0001589	frameshift_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109536374_109536375insC	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.273dupC	12.37:g.109536377_109536377dupC	ENSP00000242576:p.Pro91fs					UNG_ENST00000242576.2_Frame_Shift_Ins_p.R91fs	p.R82fs	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN			1	452_453	+			91						Frame_Shift_Ins	INS	ENST00000242576.2	37	c.243_244insC	CCDS9124.1																																																																																				0.604	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		15	153						15	153	---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117387508	117387509	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117387508_117387509insG	ENST00000309909.5	+	4	756_757	c.674_675insG	c.(673-678)gcgggafs	p.AG225fs	FBXW8_ENST00000455858.2_Frame_Shift_Ins_p.AG159fs			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	225					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGTCATTGCGGGGTAAGCCA	0.495																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(475-477)gggfs		F-box and WD repeat domain containing 8																																				SO:0001589	frameshift_variant	26259						protein binding	g.chr12:117387508_117387509insG	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.677dupG	12.37:g.117387512_117387512dupG	ENSP00000310686:p.Ala225fs					FBXW8_ENST00000309909.5_Frame_Shift_Ins_p.G225fs	p.G159fs	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	4	549_550	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		225			F-box.		Q9UK95	Frame_Shift_Ins	INS	ENST00000309909.5	37	c.476_477insG	CCDS9182.1																																																																																				0.495	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		29	82						29	82	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23447576	23447579	+	Frame_Shift_Del	DEL	TGGG	TGGG	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23447576_23447579delTGGG	ENST00000262713.2	-	2	1457_1460	c.1082_1085delCCCA	c.(1081-1086)acccagfs	p.TQ361fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.TQ361fs|AJUBA_ENST00000397388.3_5'Flank	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	361	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										AACAAAGCACTGGGTGTGGTAGAG	0.534																																						ENST00000262713.2																			0											c.(1081-1086)agfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447576_23447579delTGGG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1082_1085delCCCA	14.37:g.23447576_23447579delTGGG	ENSP00000262713:p.Thr361fs					AJUBA_ENST00000361265.4_Frame_Shift_Del_p.TQ361fs|RP11-298I3.5_ENST00000555074.1_Intron	p.TQ361fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			2	1457_1460	-			361			LIM zinc-binding 1.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.1082_1085delCCCA	CCDS9581.1																																																																																				0.534	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			31	178						31	178	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		19	269						19	269	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226616	88226618	+	lincRNA	DEL	TGA	TGA	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:88226616_88226618delTGA	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							gtgatggtggtgatggtggtggt	0.527																																						ENST00000568587.1																			0																																																			0							g.chr16:88226616_88226618delTGA																													16.37:g.88226616_88226618delTGA														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.527	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			3	5						3	5	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283695	67283695	+	Splice_Site	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:67283695delC	ENST00000355520.5	-	21	2800		c.e21+1		OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAAGCACTTACCCTCCTTGTG	0.532																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.e21+1		oligophrenin 1							21.0	18.0	19.0					X																	67283695		2182	4260	6442	SO:0001630	splice_region_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283695delC	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2158+1G>-	X.37:g.67283695delC						OPHN1_ENST00000484842.1_Intron|OPHN1_ENST00000540071.1_Intron		NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			21	2800	-								B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Splice_Site	DEL	ENST00000355520.5	37		CCDS14388.1																																																																																				0.532	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	Intron	2	4						2	4	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	25						7	25	---	---	---	---
GYG2P1	352887	broad.mit.edu	37	Y	14499036	14499036	+	RNA	DEL	A	A	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrY:14499036delA	ENST00000493160.1	-	0	802									glycogenin 2 pseudogene 1																		AGTTTTCCACAAGCAACATCT	0.572																																						ENST00000493160.1																			0																																																			352887							g.chrY:14499036delA			Yq11.21	2010-07-02	2010-03-19	2010-03-19	ENSG00000206159	ENSG00000206159			4701	pseudogene	pseudogene			"""glycogenin 2 pseudogene"""	GYG2P		10542153	Standard	NR_033667		Approved		uc022cji.1		OTTHUMG00000036382		Y.37:g.14499036delA														0	802	-									RNA	DEL	ENST00000493160.1	37																																																																																						0.572	GYG2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088556.1	NG_002811		2	4						2	4	---	---	---	---
