#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
CHD5	26038	broad.mit.edu	37	1	6189059	6189059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:6189059G>A	ENST00000262450.3	-	23	3557	c.3458C>T	c.(3457-3459)tCg>tTg	p.S1153L	CHD5_ENST00000378021.1_Missense_Mutation_p.S10L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S1153L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCCTCCACCGAGGCCCGAGT	0.662																																						uc001amb.1																			1	Substitution - Missense(1)	p.S1153L(1)	central_nervous_system(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(3457-3459)TCG>TTG		chromodomain helicase DNA binding protein 5							58.0	54.0	56.0					1																	6189059		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6189059G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3458C>T	1.37:g.6189059G>A	ENSP00000262450:p.Ser1153Leu					CHD5_uc001alz.1_Missense_Mutation_p.S10L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.S1153L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	23	3558	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1153			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3458C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264668	0.95399	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	T;T	0.79554	-1.28;1.44	4.62	4.62	0.57501	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.91412	0.7290	M	0.89904	3.07	0.53688	D	0.99997	D;D	0.89917	0.997;1.0	D;D	0.73708	0.968;0.981	D	0.93470	0.6818	10	0.87932	D	0	-10.2741	17.823	0.88656	0.0:0.0:1.0:0.0	.	1153;10	Q8TDI0;Q5TG85	CHD5_HUMAN;.	L	1153;669;10;561;561;10	ENSP00000262450:S1153L;ENSP00000367260:S10L	ENSP00000262450:S1153L	S	-	2	0	CHD5	6111646	1.000000	0.71417	0.916000	0.36221	0.975000	0.68041	6.425000	0.73370	2.268000	0.75426	0.561000	0.74099	TCG		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
LCK	3932	broad.mit.edu	37	1	32741519	32741519	+	Silent	SNP	G	G	A	rs1126767	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:32741519G>A	ENST00000336890.5	+	7	624	c.486G>A	c.(484-486)tcG>tcA	p.S162S	LCK_ENST00000373564.3_Silent_p.S220S|LCK_ENST00000333070.4_Silent_p.S162S	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	162	Interaction with PTPRH.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.S162S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATTCAGGATCGTTTTCACTGT	0.562			T	TRB@	T-ALL																																	uc001bux.2				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		1	Substitution - coding silent(1)	p.S162S(1)	central_nervous_system(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(484-486)TCG>TCA		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)	G	,	0,4406		0,0,2203	78.0	76.0	77.0		486,486	-4.8	1.0	1	dbSNP_86	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LCK	NM_001042771.1,NM_005356.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	162/510,162/510	32741519	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32741519G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.486G>A	1.37:g.32741519G>A						LCK_uc001buy.2_Silent_p.S162S|LCK_uc001buz.2_Silent_p.S162S|LCK_uc010ohc.1_Silent_p.S206S|LCK_uc001bva.2_Silent_p.S220S	p.S162S	NM_005356	NP_005347	P06239	LCK_HUMAN			7	624	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	162			SH2.|Interaction with PTPRH.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.486G>A	CCDS359.1																																																																																				0.562	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
PRPF38A	84950	broad.mit.edu	37	1	52880488	52880488	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:52880488C>G	ENST00000257181.9	+	8	990	c.804C>G	c.(802-804)agC>agG	p.S268R	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	268	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GTCACCGCAGCAGGTCCCGAG	0.527																																						uc001ctv.3																			0					0						c.(802-804)AGC>AGG		PRP38 pre-mRNA processing factor 38 (yeast)							65.0	68.0	67.0					1																	52880488		2203	4300	6503	SO:0001583	missense	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52880488C>G	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.804C>G	1.37:g.52880488C>G	ENSP00000257181:p.Ser268Arg					PRPF38A_uc001ctw.3_Missense_Mutation_p.A79G	p.S268R	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN			8	1007	+			268			Arg-rich.		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	c.804C>G	CCDS567.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182909	0.38511	.	.	ENSG00000134748	ENST00000257181	T	0.46063	0.88	5.71	3.78	0.43462	Pre-mRNA-splicing factor 38, C-terminal (1);	0.073982	0.85682	D	0.000000	T	0.44329	0.1288	L	0.31664	0.95	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	T	0.28744	-1.0034	10	0.14252	T	0.57	-19.9388	7.8953	0.29702	0.0:0.6676:0.0:0.3324	.	268	Q8NAV1	PR38A_HUMAN	R	268	ENSP00000257181:S268R	ENSP00000257181:S268R	S	+	3	2	PRPF38A	52653076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.756000	0.38390	0.699000	0.31761	0.650000	0.86243	AGC		0.527	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864	
DNAJC6	9829	broad.mit.edu	37	1	65852503	65852503	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:65852503G>A	ENST00000395325.3	+	8	990	c.833G>A	c.(832-834)cGt>cAt	p.R278H	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R265H|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R335H	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	278	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGAGAATATCGTGTCCAAGAT	0.438																																						uc001dcd.1																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(832-834)CGT>CAT		DnaJ (Hsp40) homolog, subfamily C, member 6							120.0	100.0	107.0					1																	65852503		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65852503G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.833G>A	1.37:g.65852503G>A	ENSP00000378735:p.Arg278His					DNAJC6_uc001dcc.1_Missense_Mutation_p.R309H|DNAJC6_uc010opc.1_Missense_Mutation_p.R265H|DNAJC6_uc001dce.1_Missense_Mutation_p.R335H	p.R278H	NM_014787	NP_055602	O75061	AUXI_HUMAN			8	997	+			278			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.833G>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912330	0.72983	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.85773	-2.03;-2.03;-2.03	4.35	4.35	0.52113	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	L	0.38838	1.175	0.80722	D	1	P;P;D	0.89917	0.929;0.943;1.0	B;B;D	0.71184	0.107;0.171;0.972	D	0.85507	0.1195	10	0.40728	T	0.16	.	17.4275	0.87530	0.0:0.0:1.0:0.0	.	335;278;265	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	H	265;278;335	ENSP00000263441:R265H;ENSP00000378735:R278H;ENSP00000360108:R335H	ENSP00000263441:R265H	R	+	2	0	DNAJC6	65625091	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.151000	0.94674	2.410000	0.81850	0.557000	0.71058	CGT		0.438	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1		
SLC6A17	388662	broad.mit.edu	37	1	110709512	110709512	+	5'UTR	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:110709512G>A	ENST00000331565.4	+	0	446				RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17						alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATCTTCTCTGTGTGCTGGGG	0.547																																						uc009wfq.2																			0				ovary(1)|pancreas(1)	2						c.(-41--37)CTGTG>CTATG		solute carrier family 6, member 17							25.0	25.0	25.0					1																	110709512		2202	4297	6499	SO:0001623	5_prime_UTR_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110709512G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.-40G>A	1.37:g.110709512G>A								NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	2	422	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)						A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Translation_Start_Site	SNP	ENST00000331565.4	37	c.-39G>A	CCDS30799.1																																																																																				0.547	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
NOTCH2NL	388677	broad.mit.edu	37	1	145273265	145273265	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:145273265G>A	ENST00000369340.3	+	4	563	c.119G>A	c.(118-120)tGt>tAt	p.C40Y	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C40Y|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C40Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C40Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	40	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGTGGGACTTGTGTGGCCCAG	0.532																																						uc001emp.3																			0					0						c.(-711--707)TTGTG>TTATG		hypothetical protein LOC55672							107.0	105.0	106.0					1																	145273265		2202	4278	6480	SO:0001583	missense	100132406							g.chr1:145273265G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.119G>A	1.37:g.145273265G>A	ENSP00000358346:p.Cys40Tyr					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NOTCH2NL_uc001emn.3_Missense_Mutation_p.C40Y|NOTCH2NL_uc001emm.3_Missense_Mutation_p.C40Y|NOTCH2NL_uc001emo.2_Missense_Mutation_p.C40Y|NOTCH2NL_uc010oyh.1_RNA		NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	489	+	all_hematologic(923;0.032)							Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Translation_Start_Site	SNP	ENST00000369340.3	37	c.-709G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307336	0.60305	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.99992	-12.4;-12.4;-12.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.97240	3.965	0.40741	D	0.982835	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.99866	1.1090	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	40;40	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	Y	40	ENSP00000354929:C40Y;ENSP00000344557:C40Y;ENSP00000358346:C40Y	ENSP00000344557:C40Y	C	+	2	0	NOTCH2NL	143984622	1.000000	0.71417	0.988000	0.46212	0.882000	0.50991	8.124000	0.89588	1.532000	0.49169	0.394000	0.25966	TGT		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458	
SPTA1	6708	broad.mit.edu	37	1	158618368	158618368	+	Silent	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:158618368C>G	ENST00000368147.4	-	26	3825	c.3645G>C	c.(3643-3645)ctG>ctC	p.L1215L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1215					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACACTGAACAGATCTGAGC	0.507																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3643-3645)CTG>CTC		spectrin, alpha, erythrocytic 1							122.0	121.0	121.0					1																	158618368		1959	4147	6106	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618368C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3645G>C	1.37:g.158618368C>G							p.L1215L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			26	3844	-	all_hematologic(112;0.0378)		1215			Spectrin 12.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3645G>C	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						uc001fst.1																			1	Substitution - Nonsense(1)		endometrium(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2671-2673)CGA>TGA		spectrin, alpha, erythrocytic 1							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*						p.R891*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2870	-	all_hematologic(112;0.0378)		891			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
F5	2153	broad.mit.edu	37	1	169512354	169512354	+	Splice_Site	SNP	T	T	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:169512354T>G	ENST00000367797.3	-	13	2177		c.e13-2		F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCCAAGTTCCTACAGAAGAGA	0.383																																						uc001ggg.1																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.e13-1		coagulation factor V precursor	Drotrecogin alfa(DB00055)						50.0	50.0	50.0					1																	169512354		2202	4300	6502	SO:0001630	splice_region_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512354T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1976-2A>C	1.37:g.169512354T>G							p.G659_splice	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2121	-	all_hematologic(923;0.208)							A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	ENST00000367797.3	37	c.1976_splice	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339481	0.60963	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.98	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9103	0.58177	0.0:0.0:0.1358:0.8642	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167778978	1.000000	0.71417	0.806000	0.32338	0.751000	0.42716	6.275000	0.72594	1.035000	0.39972	0.482000	0.46254	.		0.383	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	Intron
TNN	63923	broad.mit.edu	37	1	175048687	175048687	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:175048687G>A	ENST00000239462.4	+	3	741	c.628G>A	c.(628-630)Ggc>Agc	p.G210S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	210	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCGGACACGGCGAGTGCGT	0.701																																						uc001gkl.1																			0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(628-630)GGC>AGC		tenascin N precursor							14.0	12.0	13.0					1																	175048687		2166	4256	6422	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048687G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.628G>A	1.37:g.175048687G>A	ENSP00000239462:p.Gly210Ser					TNN_uc010pmx.1_Missense_Mutation_p.G210S	p.G210S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	741	+		Breast(1374;0.000962)	210			EGF-like 2.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.628G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858437	0.91433	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.14022	2.54	4.7	4.7	0.59300	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	H	0.98980	4.39	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77713	-0.2485	10	0.72032	D	0.01	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	210;210	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	210	ENSP00000239462:G210S	ENSP00000239462:G210S	G	+	1	0	TNN	173315310	1.000000	0.71417	0.414000	0.26521	0.407000	0.30961	7.631000	0.83237	2.321000	0.78463	0.491000	0.48974	GGC		0.701	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
CAMSAP2	23271	broad.mit.edu	37	1	200784743	200784743	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:200784743C>G	ENST00000236925.4	+	4	665	c.616C>G	c.(616-618)Cac>Gac	p.H206D	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.H206D|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.H206D			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	206					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAAGAACATCACACAGTTGA	0.269																																						uc001gvl.2																			0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(616-618)CAC>GAC		calmodulin regulated spectrin-associated protein							46.0	50.0	49.0					1																	200784743		2202	4292	6494	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200784743C>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.616C>G	1.37:g.200784743C>G	ENSP00000236925:p.His206Asp					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.H206D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.H206D	p.H206D	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			4	886	+			206					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.616C>G		.	.	.	.	.	.	.	.	.	.	C	7.936	0.741629	0.15642	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.54;2.56;2.51	5.39	4.47	0.54385	Calponin homology domain (1);	0.493779	0.23422	N	0.048353	T	0.09598	0.0236	N	0.24115	0.695	0.35948	D	0.833739	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.14448	-1.0472	10	0.11485	T	0.65	-7.929	14.5004	0.67716	0.0:0.929:0.0:0.071	.	206;206;206	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	D	206	ENSP00000351684:H206D;ENSP00000416800:H206D;ENSP00000236925:H206D	ENSP00000236925:H206D	H	+	1	0	CAMSAP1L1	199051366	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	3.603000	0.54074	1.398000	0.46701	0.655000	0.94253	CAC		0.269	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
CD46	4179	broad.mit.edu	37	1	207930949	207930949	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr1:207930949C>T	ENST00000358170.2	+	3	507	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CD46_ENST00000367041.1_Silent_p.Y117Y|CD46_ENST00000480003.1_Silent_p.Y117Y|CD46_ENST00000361067.1_Silent_p.Y117Y|CD46_ENST00000354848.1_Silent_p.Y117Y|CD46_ENST00000322918.5_Silent_p.Y117Y|CD46_ENST00000357714.1_Silent_p.Y117Y|CD46_ENST00000322875.4_Silent_p.Y117Y|CD46_ENST00000367042.1_Silent_p.Y117Y|CD46_ENST00000441839.2_Silent_p.Y117Y|CD46_ENST00000360212.2_Silent_p.Y117Y|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Silent_p.Y54Y	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	117	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.Y117*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						ATGGGACTTACGAGTTTGGTT	0.358																																						uc001hgc.2																			1	Substitution - Nonsense(1)		breast(1)	large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(349-351)TAC>TAT		CD46 antigen, complement regulatory protein							52.0	50.0	51.0					1																	207930949		2203	4299	6502	SO:0001819	synonymous_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930949C>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.351C>T	1.37:g.207930949C>T						CD46_uc001hgd.2_Silent_p.Y117Y|CD46_uc001hge.2_Silent_p.Y117Y|CD46_uc001hgf.2_Silent_p.Y117Y|CD46_uc001hgg.2_Silent_p.Y117Y|CD46_uc001hgh.2_Silent_p.Y117Y|CD46_uc001hgi.2_Silent_p.Y117Y|CD46_uc001hgj.2_Silent_p.Y117Y|CD46_uc001hgk.2_Silent_p.Y117Y|CD46_uc001hgl.2_Silent_p.Y117Y|CD46_uc001hgm.2_Silent_p.Y117Y|CD46_uc001hgn.2_Silent_p.Y117Y|CD46_uc001hgo.2_Silent_p.Y117Y|CD46_uc001hgp.2_Silent_p.Y117Y	p.Y117Y	NM_002389	NP_002380	P15529	MCP_HUMAN			3	507	+			117			Extracellular (Potential).|Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	c.351C>T	CCDS1485.1																																																																																				0.358	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T	rs200440576		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:4824947C>T	ENST00000356069.2	-	1	663	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	OR52R1_ENST00000380382.1_Missense_Mutation_p.V301M|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473																																						uc010qym.1																			0				skin(1)	1						c.(901-903)GTG>ATG		olfactory receptor, family 52, subfamily R,		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	91.0	77.0	82.0		664	-1.2	0.8	11		82	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52R1	NM_001005177.3	21	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign	222/316	4824947	2,12996	2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824947C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.664G>A	11.37:g.4824947C>T	ENSP00000348368:p.Val222Met						p.V301M	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	901	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	222			Cytoplasmic (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.901G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	5.145	0.212274	0.09757	2.27E-4	1.16E-4	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00265	8.39;8.39	5.57	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	0.599214	0.14194	N	0.335121	T	0.00210	0.0006	L	0.54908	1.71	0.09310	N	1	B	0.33919	0.432	B	0.36134	0.218	T	0.26292	-1.0107	10	0.54805	T	0.06	.	11.3854	0.49782	0.0:0.482:0.0:0.518	.	222	Q8NGF1	O52R1_HUMAN	M	222;301	ENSP00000348368:V222M;ENSP00000369742:V301M	ENSP00000348368:V222M	V	-	1	0	OR52R1	4781523	0.000000	0.05858	0.813000	0.32504	0.024000	0.10985	-2.137000	0.01304	-0.109000	0.12044	-1.314000	0.01303	GTG		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
ARFGAP2	84364	broad.mit.edu	37	11	47196824	47196824	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:47196824G>C	ENST00000524782.1	-	4	533	c.305C>G	c.(304-306)gCc>gGc	p.A102G	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A23G|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	102	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGTGTTGGCATCATTGGC	0.542																																						uc001ndt.2																			0				ovary(1)	1						c.(304-306)GCC>GGC		ADP-ribosylation factor GTPase activating							112.0	115.0	114.0					11																	47196824		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47196824G>C	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.305C>G	11.37:g.47196824G>C	ENSP00000434442:p.Ala102Gly					ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Missense_Mutation_p.A102G|ARFGAP2_uc001ndv.1_3'UTR	p.A102G	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			4	320	-			102			Required for interaction with coatomer.|Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.305C>G	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199748	0.79015	.	.	ENSG00000149182	ENST00000524782;ENST00000419701;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T	0.43294	0.95;3.13;0.95;0.95;0.95;0.95	5.52	5.52	0.82312	.	0.059758	0.64402	D	0.000001	T	0.63070	0.2480	M	0.81239	2.535	0.80722	D	1	P;D;P	0.55385	0.811;0.971;0.595	P;P;B	0.55391	0.602;0.775;0.374	T	0.65792	-0.6082	10	0.51188	T	0.08	-16.5353	19.4741	0.94979	0.0:0.0:1.0:0.0	.	102;23;102	B7Z6H9;B4DX29;Q8N6H7	.;.;ARFG2_HUMAN	G	102;23;102;102;102;95	ENSP00000434442:A102G;ENSP00000389264:A23G;ENSP00000431939:A102G;ENSP00000434809:A102G;ENSP00000431684:A102G;ENSP00000435488:A95G	ENSP00000389264:A23G	A	-	2	0	ARFGAP2	47153400	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.469000	0.97679	2.595000	0.87683	0.655000	0.94253	GCC		0.542	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	
OR9G1	390174	broad.mit.edu	37	11	56467865	56467865	+	Splice_Site	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:56467865T>A	ENST00000312153.1	+	1	2	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTTACAGCCATGCAGAGGAGC	0.453																																						uc010rjn.1																			0					0						c.(1-3)ATG>AAG		olfactory receptor, family 9, subfamily G,							84.0	77.0	80.0					11																	56467865		2201	4296	6497	SO:0001630	splice_region_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56467865T>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.2-1T>A	11.37:g.56467865T>A							p.M1K	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	2	+			1			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.2T>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204219	0.38905	.	.	ENSG00000174914	ENST00000312153	T	0.01414	4.92	4.52	2.18	0.27775	.	0.000000	0.64402	D	0.000004	T	0.06416	0.0165	.	.	.	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.03684	-1.1013	9	0.87932	D	0	-47.2644	8.5919	0.33693	0.0:0.1625:0.0:0.8375	.	1	Q8NH87	OR9G1_HUMAN	K	1	ENSP00000309012:M1K	ENSP00000309012:M1K	M	+	2	0	OR9G1	56224441	1.000000	0.71417	0.907000	0.35723	0.274000	0.26718	2.204000	0.42761	0.340000	0.23745	0.467000	0.42956	ATG		0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	Missense_Mutation
MS4A1	931	broad.mit.edu	37	11	60233626	60233626	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:60233626T>A	ENST00000534668.1	+	5	858	c.569T>A	c.(568-570)tTc>tAc	p.F190Y	MS4A1_ENST00000532073.1_Missense_Mutation_p.F190Y|MS4A1_ENST00000345732.4_Missense_Mutation_p.F190Y|MS4A1_ENST00000389939.2_Missense_Mutation_p.F190Y|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	190					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CAATCTCTGTTCTTGGTAAGT	0.418																																						uc001npp.2																			0				ovary(3)|lung(2)	5						c.(568-570)TTC>TAC		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						132.0	124.0	127.0					11																	60233626		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60233626T>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.569T>A	11.37:g.60233626T>A	ENSP00000433277:p.Phe190Tyr					MS4A1_uc001npq.2_Missense_Mutation_p.F190Y|MS4A1_uc009yna.2_Missense_Mutation_p.F190Y|MS4A1_uc009ymz.2_Missense_Mutation_p.F190Y|MS4A1_uc010rlc.1_Intron	p.F190Y	NM_152866	NP_690605	P11836	CD20_HUMAN			6	985	+			190			Helical; (Potential).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.569T>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636752	0.29068	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000389939	T;T;T;T	0.02606	4.23;4.23;4.23;4.23	0.137	0.137	0.14787	.	1.231130	0.05521	N	0.562027	T	0.03651	0.0104	L	0.52011	1.625	0.20563	N	0.999882	P;P	0.46784	0.884;0.884	B;B	0.42653	0.394;0.394	T	0.44112	-0.9349	9	0.11485	T	0.65	-6.4921	.	.	.	.	190;190	E9PKH8;P11836	.;CD20_HUMAN	Y	190	ENSP00000314620:F190Y;ENSP00000433519:F190Y;ENSP00000433277:F190Y;ENSP00000374589:F190Y	ENSP00000314620:F190Y	F	+	2	0	MS4A1	59990202	0.772000	0.28567	0.468000	0.27192	0.074000	0.17049	0.309000	0.19332	0.249000	0.21456	0.246000	0.17985	TTC		0.418	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1		
NAALADL1	10004	broad.mit.edu	37	11	64822202	64822202	+	Silent	SNP	G	G	A	rs374873025		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:64822202G>A	ENST00000358658.3	-	5	639	c.612C>T	c.(610-612)aaC>aaT	p.N204N	NAALADL1_ENST00000355721.3_Silent_p.N163N|NAALADL1_ENST00000356632.3_Silent_p.N204N|NAALADL1_ENST00000339885.2_Silent_p.N204N|NAALADL1_ENST00000355369.2_Silent_p.N204N|NAALADL1_ENST00000340252.4_Silent_p.N204N	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTGGCAGCGTTCACAGCCT	0.597																																						uc001ocn.2																			0					0						c.(610-612)AAC>AAT		N-acetylated alpha-linked acidic		G		0,4402		0,0,2201	53.0	52.0	52.0		612	-9.4	0.0	11		52	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	NAALADL1	NM_005468.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		204/741	64822202	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64822202G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.612C>T	11.37:g.64822202G>A						NAALADL1_uc010rnw.1_Translation_Start_Site	p.N204N	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			5	628	-			204			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.612C>T	CCDS31604.1																																																																																				0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
FLI1	2313	broad.mit.edu	37	11	128628186	128628186	+	Silent	SNP	C	C	T	rs186120614	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr11:128628186C>T	ENST00000527786.2	+	2	684	c.195C>T	c.(193-195)aaC>aaT	p.N65N	FLI1_ENST00000344954.6_Silent_p.N32N|FLI1_ENST00000534087.2_Silent_p.N32N|FLI1_ENST00000525560.1_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	65					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGAGGGTCAACGTCAAGCGGG	0.587			T	EWSR1	Ewing sarcoma								C|||	12	0.00239617	0.0091	0.0	5008	,	,		21245	0.0		0.0	False		,,,				2504	0.0					uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	0				bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(193-195)AAC>AAT		Friend leukemia virus integration 1		C	,	7,4219		0,7,2106	66.0	70.0	69.0		96,195	-4.3	0.8	11		69	1,8447		0,1,4223	no	coding-synonymous,coding-synonymous	FLI1	NM_001167681.2,NM_002017.3	,	0,8,6329	TT,TC,CC		0.0118,0.1656,0.0631	,	32/420,65/453	128628186	8,12666	2113	4224	6337	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128628186C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.195C>T	11.37:g.128628186C>T						FLI1_uc010sbt.1_Translation_Start_Site|FLI1_uc010sbv.1_Silent_p.N32N|FLI1_uc009zci.2_Translation_Start_Site|FLI1_uc001qen.2_Silent_p.N32N	p.N65N	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	536	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	65					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.195C>T	CCDS44768.1																																																																																				0.587	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
CPNE8	144402	broad.mit.edu	37	12	39124093	39124093	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:39124093C>T	ENST00000331366.5	-	11	886	c.790G>A	c.(790-792)Gta>Ata	p.V264I	CPNE8_ENST00000360449.3_Missense_Mutation_p.V252I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	264						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACCTCATATACGTTGAATTGT	0.308																																						uc001rls.1																			0				pancreas(1)	1						c.(790-792)GTA>ATA		copine VIII							97.0	99.0	98.0					12																	39124093		2203	4298	6501	SO:0001583	missense	144402							g.chr12:39124093C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.790G>A	12.37:g.39124093C>T	ENSP00000329748:p.Val264Ile						p.V264I	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			11	874	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	264					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.790G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373493	0.42105	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.39056	1.1;1.1	4.31	4.31	0.51392	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.067131	0.64402	D	0.000014	T	0.33818	0.0876	L	0.33093	0.98	0.80722	D	1	B	0.18461	0.028	B	0.15052	0.012	T	0.10268	-1.0637	10	0.32370	T	0.25	-15.0185	16.4244	0.83809	0.0:1.0:0.0:0.0	.	264	Q86YQ8	CPNE8_HUMAN	I	264;252	ENSP00000329748:V264I;ENSP00000353633:V252I	ENSP00000329748:V264I	V	-	1	0	CPNE8	37410360	0.983000	0.35010	0.834000	0.33040	0.959000	0.62525	2.780000	0.47742	2.322000	0.78497	0.655000	0.94253	GTA		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
RACGAP1	29127	broad.mit.edu	37	12	50388234	50388234	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:50388234T>A	ENST00000427314.2	-	13	1326	c.1103A>T	c.(1102-1104)cAt>cTt	p.H368L	RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H368L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H368L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H368L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.H368L|RACGAP1_ENST00000434422.1_Missense_Mutation_p.H368L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ATTTACACAATGCACAACAAT	0.378																																						uc001rvt.2																			0				kidney(1)	1						c.(1102-1104)CAT>CTT		Rac GTPase activating protein 1							99.0	94.0	96.0					12																	50388234		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50388234T>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1103A>T	12.37:g.50388234T>A	ENSP00000404190:p.His368Leu					RACGAP1_uc009zlm.1_Missense_Mutation_p.H368L|RACGAP1_uc001rvs.2_Missense_Mutation_p.H368L|RACGAP1_uc001rvu.2_Missense_Mutation_p.H368L	p.H368L	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			13	1413	-			368			Rho-GAP.			Missense_Mutation	SNP	ENST00000427314.2	37	c.1103A>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000377	0.54147	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.35	4.21	0.49690	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.178962	0.64402	D	0.000014	T	0.13072	0.0317	L	0.39326	1.205	0.80722	D	1	P	0.34837	0.472	B	0.32928	0.155	T	0.09952	-1.0651	10	0.21014	T	0.42	-5.8822	10.3007	0.43650	0.0:0.0786:0.0:0.9214	.	368	Q9H0H5	RGAP1_HUMAN	L	368;368;368;368;368;368;104	ENSP00000404190:H368L;ENSP00000309871:H368L;ENSP00000413241:H368L;ENSP00000404808:H368L;ENSP00000449374:H368L;ENSP00000449370:H368L;ENSP00000449565:H104L	ENSP00000309871:H368L	H	-	2	0	RACGAP1	48674501	1.000000	0.71417	0.953000	0.39169	0.896000	0.52359	6.207000	0.72159	0.876000	0.35872	0.454000	0.30748	CAT		0.378	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277	
HCAR1	27198	broad.mit.edu	37	12	123214503	123214503	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr12:123214503G>A	ENST00000436083.2	-	1	887	c.384C>T	c.(382-384)tcC>tcT	p.S128S	HCAR1_ENST00000432564.1_Silent_p.S128S|HCAR1_ENST00000356987.2_Silent_p.S128S			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	128					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CCACCCGGGTGGAGATAGTGT	0.602																																						uc001ucz.2																			0					0						c.(382-384)TCC>TCT		G protein-coupled receptor 81							56.0	56.0	56.0					12																	123214503		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214503G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.384C>T	12.37:g.123214503G>A						GPR81_uc001ucw.1_RNA	p.S128S	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	627	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		128			Cytoplasmic (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.384C>T	CCDS9236.1																																																																																				0.602	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1		
RNF17	56163	broad.mit.edu	37	13	25442748	25442748	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr13:25442748C>T	ENST00000255324.5	+	31	4224	c.4172C>T	c.(4171-4173)tCg>tTg	p.S1391L	RNF17_ENST00000339524.3_Missense_Mutation_p.S401L|RNF17_ENST00000381921.1_Missense_Mutation_p.S1349L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1391					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAATTGCTTTCGGCTGAAACA	0.368																																						uc001upr.2																			0				ovary(1)|skin(1)	2						c.(4171-4173)TCG>TTG		ring finger protein 17							151.0	145.0	147.0					13																	25442748		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25442748C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4172C>T	13.37:g.25442748C>T	ENSP00000255324:p.Ser1391Leu					RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S1387L|RNF17_uc001ups.2_Missense_Mutation_p.S1330L|RNF17_uc010aac.2_Missense_Mutation_p.S583L|RNF17_uc010aad.2_Missense_Mutation_p.S401L	p.S1391L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	31	4213	+		Lung SC(185;0.0225)|Breast(139;0.077)	1391					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4172C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.891886	0.00522	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.24723	3.51;3.54;2.73;1.84	5.93	-2.03	0.07365	.	0.725810	0.11758	N	0.532345	T	0.06234	0.0161	N	0.01219	-0.95	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34625	-0.9821	10	0.23302	T	0.38	-0.0259	2.3446	0.04268	0.139:0.2508:0.0996:0.5106	.	1387;401;1385;1391	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	L	1391;1349;715;401	ENSP00000255324:S1391L;ENSP00000371346:S1349L;ENSP00000388892:S715L;ENSP00000344776:S401L	ENSP00000255324:S1391L	S	+	2	0	RNF17	24340748	0.000000	0.05858	0.801000	0.32222	0.115000	0.19883	-0.552000	0.06020	0.025000	0.15241	-0.880000	0.02959	TCG		0.368	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
SERPINA3	12	broad.mit.edu	37	14	95090098	95090098	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr14:95090098G>A	ENST00000467132.1	+	5	2367	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	SERPINA3_ENST00000393078.3_Missense_Mutation_p.D407N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D407N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D189N|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	407			D -> G (in dbSNP:rs10956).		acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D407N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGTCCCTACAGACACCCAGAA	0.493																																						uc001ydp.2																			1	Substitution - Missense(1)	p.D407N(1)	central_nervous_system(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(1219-1221)GAC>AAC		serpin peptidase inhibitor, clade A, member 3							195.0	170.0	178.0					14																	95090098		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95090098G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1219G>A	14.37:g.95090098G>A	ENSP00000450540:p.Asp407Asn					SERPINA3_uc001ydo.3_Missense_Mutation_p.D432N|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D407N|SERPINA3_uc001yds.2_Missense_Mutation_p.D407N|SERPINA3_uc010avg.2_Missense_Mutation_p.D407N	p.D407N	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	5	1298	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	407					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.1219G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	5.980	0.364778	0.11296	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.75	-3.1	0.05315	Serpin domain (3);	1.004250	0.08019	N	0.991636	T	0.74801	0.3764	L	0.49455	1.56	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.57596	-0.7784	10	0.06365	T	0.9	.	7.1608	0.25662	0.3216:0.1168:0.5616:0.0	.	407;432	P01011;G3V5I3	AACT_HUMAN;.	N	432;407;407;407;189	ENSP00000452367:D432N;ENSP00000376793:D407N;ENSP00000376795:D407N;ENSP00000450540:D407N;ENSP00000451119:D189N	ENSP00000376793:D407N	D	+	1	0	SERPINA3	94159851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.438000	0.01017	-0.497000	0.06641	0.563000	0.77884	GAC		0.493	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
KIF26A	26153	broad.mit.edu	37	14	104643009	104643009	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr14:104643009G>A	ENST00000423312.2	+	12	3884	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	KIF26A_ENST00000315264.7_Missense_Mutation_p.R1156H	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1295					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGGCGGCCCGCAGGCCAGAG	0.701																																						uc001yos.3																			0				pancreas(1)	1						c.(3883-3885)CGC>CAC		kinesin family member 26A							10.0	14.0	12.0					14																	104643009		1978	4107	6085	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104643009G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3884G>A	14.37:g.104643009G>A	ENSP00000388241:p.Arg1295His						p.R1295H	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	3884	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1295					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3884G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135760	0.21123	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79141	-1.24;-1.24	3.48	0.0909	0.14465	.	.	.	.	.	T	0.52725	0.1752	N	0.08118	0	0.18873	N	0.999985	B	0.12630	0.006	B	0.04013	0.001	T	0.33189	-0.9878	9	0.32370	T	0.25	.	3.9689	0.09444	0.408:0.3771:0.2149:0.0	.	1295	Q9ULI4	KI26A_HUMAN	H	1295;1156	ENSP00000388241:R1295H;ENSP00000325452:R1156H	ENSP00000325452:R1156H	R	+	2	0	KIF26A	103712762	0.000000	0.05858	0.002000	0.10522	0.665000	0.39181	0.511000	0.22739	-0.232000	0.09811	0.313000	0.20887	CGC		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
HEXA	3073	broad.mit.edu	37	15	72645470	72645470	+	Missense_Mutation	SNP	C	C	T	rs121907957		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr15:72645470C>T	ENST00000268097.5	-	5	1012	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.R181Q|HEXA_ENST00000429918.2_Intron|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.R170Q	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	170			R -> Q (in GM2G1; infantile; inactive or unstable protein). {ECO:0000269|PubMed:9338583}.|R -> W (in GM2G1; infantile). {ECO:0000269|PubMed:1302612}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGCAAGCCCCGGTGAGGAAA	0.468																																						uc002aun.3																			0				ovary(3)|upper_aerodigestive_tract(1)	4	GRCh37	CM920330	HEXA	M	rs121907957	c.(508-510)CGG>CAG		hexosaminidase A preproprotein							109.0	86.0	94.0					15																	72645470		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72645470C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.509G>A	15.37:g.72645470C>T	ENSP00000268097:p.Arg170Gln					CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.R181Q|HEXA_uc002auo.3_Missense_Mutation_p.R33Q|HEXA_uc010bix.2_Missense_Mutation_p.R170Q|HEXA_uc010biy.2_Missense_Mutation_p.R33Q|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA	p.R170Q	NM_000520	NP_000511	P06865	HEXA_HUMAN			5	716	-			170		R -> W (in GM2G1; infantile).|R -> Q (in GM2G1; infantile; inactive or unstable protein).			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.509G>A	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933491	0.97116	.	.	ENSG00000213614	ENST00000268097	D	0.99429	-5.89	5.44	5.44	0.79542	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99867	4.865	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96321	0.9236	9	0.87932	D	0	-25.5209	19.2727	0.94016	0.0:1.0:0.0:0.0	.	181;50;170	B4DVA7;Q9BVJ8;P06865	.;.;HEXA_HUMAN	Q	170	ENSP00000268097:R170Q	ENSP00000268097:R170Q	R	-	2	0	HEXA	70432524	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.724000	0.84798	2.543000	0.85770	0.650000	0.86243	CGG		0.468	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	
ADAMTS17	170691	broad.mit.edu	37	15	100692957	100692957	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr15:100692957T>C	ENST00000268070.4	-	10	1438	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	445	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AAGCAGGTGCTGACTTTTGAC	0.488																																						uc002bvv.1																			0				ovary(2)|central_nervous_system(1)	3						c.(1333-1335)AGC>GGC		ADAM metallopeptidase with thrombospondin type 1							64.0	58.0	60.0					15																	100692957		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100692957T>C	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1333A>G	15.37:g.100692957T>C	ENSP00000268070:p.Ser445Gly					ADAMTS17_uc002bvx.1_Missense_Mutation_p.S202G	p.S445G	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	10	1412	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		445			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1333A>G	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468777	0.43839	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.01258	5.09	5.62	5.62	0.85841	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.01489	0.0048	N	0.00783	-1.19	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.906	T	0.67795	-0.5578	10	0.02654	T	1	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	202;445	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	G	445;202	ENSP00000268070:S445G	ENSP00000268070:S445G	S	-	1	0	ADAMTS17	98510480	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.199000	0.77831	2.129000	0.65627	0.533000	0.62120	AGC		0.488	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr16:67973970_67973971insG	ENST00000264005.5	-	6	1188_1189	c.1159_1160insC	c.(1159-1161)cagfs	p.Q387fs	PSMB10_ENST00000358514.4_5'Flank	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	387					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629																																						uc002euy.1																			0					0						c.(1159-1161)CAGfs		lecithin-cholesterol acyltransferase precursor																																				SO:0001589	frameshift_variant	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67973970_67973971insG		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1160dupC	16.37:g.67973972_67973972dupG	ENSP00000264005:p.Gln387fs						p.Q387fs	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	6	1170_1171	-		Ovarian(137;0.0563)	387					Q53XQ3	Frame_Shift_Ins	INS	ENST00000264005.5	37	c.1159_1160insC	CCDS10854.1																																																																																				0.629	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		
CDH1	999	broad.mit.edu	37	16	68856093	68856093	+	Missense_Mutation	SNP	C	C	T	rs121964878		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr16:68856093C>T	ENST00000261769.5	+	12	2092	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	CDH1_ENST00000422392.2_Missense_Mutation_p.A573V|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	634	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> V (found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence). {ECO:0000269|PubMed:12588804}.	ASA -> RVP (in Ref. 3; AAA61259). {ECO:0000305}.	adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.A634V(3)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACACACGGGGCGAGTGCCAAC	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		3	Substitution - Missense(3)	p.A634V(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243	GRCh37	CM034217	CDH1	M	rs121964878	c.(1900-1902)GCG>GTG		cadherin 1, type 1 preproprotein							97.0	81.0	86.0					16																	68856093		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68856093C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1901C>T	16.37:g.68856093C>T	ENSP00000261769:p.Ala634Val					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A573V	p.A634V	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	2025	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	634	ASA -> RVP (in Ref. 3; AAA61259).	A -> V (found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence).	Cadherin 5.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1901C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953019	0.53293	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.61274	0.12;0.12	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.127123	0.35436	N	0.003216	T	0.49218	0.1544	L	0.49126	1.545	0.29898	N	0.82463	P;B	0.42584	0.784;0.051	B;B	0.37508	0.252;0.007	T	0.56117	-0.8032	10	0.02654	T	1	.	19.4507	0.94865	0.0:1.0:0.0:0.0	.	573;634	Q9UII8;P12830	.;CADH1_HUMAN	V	634;652;573	ENSP00000261769:A634V;ENSP00000414946:A573V	ENSP00000261769:A634V	A	+	2	0	CDH1	67413594	0.952000	0.32445	0.991000	0.47740	0.890000	0.51754	3.125000	0.50469	2.697000	0.92050	0.632000	0.83419	GCG		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T	rs397514641		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:29497003C>T	ENST00000358273.4	+	5	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R192*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R192*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	192					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R192*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	p.R192*(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM000774	NF1	M		c.(574-576)CGA>TGA		neurofibromin isoform 1							73.0	74.0	74.0					17																	29497003		2203	4298	6501	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29497003C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.574C>T	17.37:g.29497003C>T	ENSP00000351015:p.Arg192*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.R192*|NF1_uc002hgf.1_Nonsense_Mutation_p.R192*|NF1_uc002hgh.2_Nonsense_Mutation_p.R192*|NF1_uc010csn.1_Intron	p.R192*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	907	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	192					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.574C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711613	0.96821	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.59	3.58	0.41010	.	0.064020	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.613	0.39674	0.2526:0.6804:0.0:0.067	.	.	.	.	X	192	.	ENSP00000348498:R192X	R	+	1	2	NF1	26521129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.602000	0.46257	0.712000	0.32039	0.591000	0.81541	CGA		0.284	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29552164	29552164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:29552164delG	ENST00000358273.4	+	17	2280	c.1897delG	c.(1897-1899)gatfs	p.D633fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.D633fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	633					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.D633fs*55(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTAGGATGTGATATTCCTTC	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.?(2)|p.D633fs*55(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1897-1899)GATfs		neurofibromin isoform 1							152.0	155.0	154.0					17																	29552164		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552164delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1897delG	17.37:g.29552164delG	ENSP00000351015:p.Asp633fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.D633fs|NF1_uc010csn.1_Frame_Shift_Del_p.D493fs|NF1_uc002hgi.1_5'UTR	p.D633fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2230	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	633					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1897delG	CCDS42292.1																																																																																				0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
EVPL	2125	broad.mit.edu	37	17	74005931	74005931	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr17:74005931G>A	ENST00000301607.3	-	22	3608	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	EVPL_ENST00000586740.1_Missense_Mutation_p.R1141C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1119	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						TCTTCGATGCGAGCCTGTAGC	0.627																																						uc002jqi.2																			0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(3355-3357)CGC>TGC		envoplakin							57.0	57.0	57.0					17																	74005931		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005931G>A	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.3355C>T	17.37:g.74005931G>A	ENSP00000301607:p.Arg1119Cys					EVPL_uc010wss.1_Missense_Mutation_p.R1141C|EVPL_uc010wst.1_Missense_Mutation_p.R589C	p.R1119C	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	3583	-			1119			Central fibrous rod domain.|Potential.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3355C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685439	0.29872	.	.	ENSG00000167880	ENST00000301607	T	0.42513	0.97	5.17	5.17	0.71159	.	0.195362	0.45361	D	0.000367	T	0.56891	0.2016	M	0.65975	2.015	0.21652	N	0.9996	D;D	0.89917	1.0;1.0	P;P	0.57846	0.814;0.828	T	0.54925	-0.8220	10	0.87932	D	0	-30.1178	13.5444	0.61695	0.0:0.0:0.8044:0.1956	.	1141;1119	B7ZLH8;Q92817	.;EVPL_HUMAN	C	1119	ENSP00000301607:R1119C	ENSP00000301607:R1119C	R	-	1	0	EVPL	71517526	0.995000	0.38212	0.115000	0.21578	0.004000	0.04260	3.344000	0.52174	2.419000	0.82065	0.491000	0.48974	CGC		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
DSG2	1829	broad.mit.edu	37	18	29101206	29101206	+	Splice_Site	SNP	C	C	T	rs375422019		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr18:29101206C>T	ENST00000261590.8	+	5	732	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	DSG2_ENST00000585206.1_Splice_Site_p.H175Y	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAGTGCAGCACGTAAGAGTCt	0.333																																						uc002kwu.3																			0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(523-525)CAT>TAT		desmoglein 2 preproprotein							86.0	77.0	80.0					18																	29101206		1838	4090	5928	SO:0001630	splice_region_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29101206C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.523+1C>T	18.37:g.29101206C>T							p.H175Y	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		5	711	+			175			Extracellular (Potential).|Cadherin 2.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.523C>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	3.132	-0.178261	0.06380	.	.	ENSG00000046604	ENST00000261590	T	0.60920	0.15	5.62	-3.02	0.05446	Cadherin (4);Cadherin-like (1);	1.153340	0.06741	U	0.778345	T	0.39358	0.1075	L	0.29908	0.895	0.28595	N	0.909459	B	0.09022	0.002	B	0.08055	0.003	T	0.35076	-0.9803	10	0.87932	D	0	.	2.5677	0.04787	0.2405:0.2381:0.3793:0.1421	.	175	Q14126	DSG2_HUMAN	Y	175	ENSP00000261590:H175Y	ENSP00000261590:H175Y	H	+	1	0	DSG2	27355204	0.945000	0.32115	0.229000	0.23960	0.023000	0.10783	0.209000	0.17435	-0.526000	0.06383	-0.268000	0.10319	CAT		0.333	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	Missense_Mutation
ZNF271	10778	broad.mit.edu	37	18	32886618	32886618	+	RNA	SNP	T	T	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr18:32886618T>G	ENST00000399070.3	+	0	1012					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						CAGTCAGAGCTCAGATCTTAT	0.378																																						uc002kyq.3																			0					0						c.(28-30)GCT>GCG		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							61.0	63.0	62.0					18																	32886618		2203	4300	6503			10778							g.chr18:32886618T>G	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886618T>G						ZNF271_uc002kyp.3_Silent_p.A10A|ZNF271_uc002kyr.3_Silent_p.A10A	p.A10A	NR_024565						3	1022	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Silent	SNP	ENST00000399070.3	37	c.30T>G																																																																																					0.378	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
AP3D1	8943	broad.mit.edu	37	19	2110727	2110727	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:2110727C>T	ENST00000345016.5	-	25	3199	c.2968G>A	c.(2968-2970)Gtg>Atg	p.V990M	AP3D1_ENST00000350812.6_Missense_Mutation_p.V821M|AP3D1_ENST00000355272.6_Missense_Mutation_p.V1052M|AP3D1_ENST00000356926.4_Missense_Mutation_p.V949M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	990					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAAGGCACGGGGACGCCA	0.687																																						uc002luz.2																			0					0						c.(2968-2970)GTG>ATG		adaptor-related protein complex 3, delta 1							17.0	22.0	20.0					19																	2110727		2139	4243	6382	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110727C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2968G>A	19.37:g.2110727C>T	ENSP00000344055:p.Val990Met					AP3D1_uc010dsv.2_Missense_Mutation_p.V80M|AP3D1_uc002luy.2_Missense_Mutation_p.V949M|AP3D1_uc002lva.2_Missense_Mutation_p.V1052M	p.V990M	NM_003938	NP_003929	O14617	AP3D1_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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3191	-		Hepatocellular(1079;0.137)	990					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.2968G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338529	0.81911	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.996	T	0.70174	-0.4944	10	0.34782	T	0.22	-40.7602	16.4201	0.83755	0.0:1.0:0.0:0.0	.	821;1052;990;949	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	M	949;990;1052;858;821	ENSP00000349398:V949M;ENSP00000344055:V990M;ENSP00000347416:V1052M;ENSP00000342321:V821M	ENSP00000341579:V858M	V	-	1	0	AP3D1	2061727	1.000000	0.71417	0.999000	0.59377	0.634000	0.38068	7.523000	0.81856	2.214000	0.71695	0.491000	0.48974	GTG		0.687	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		
ACTL9	284382	broad.mit.edu	37	19	8807914	8807914	+	Missense_Mutation	SNP	C	C	T	rs532021673		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:8807914C>T	ENST00000324436.3	-	1	1258	c.1138G>A	c.(1138-1140)Gta>Ata	p.V380I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCGATCCATACGGAGAAATTC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					uc002mkl.2																			0				large_intestine(2)|pancreas(1)	3						c.(1138-1140)GTA>ATA		actin-like 9							31.0	35.0	34.0					19																	8807914		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807914C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1138G>A	19.37:g.8807914C>T	ENSP00000316674:p.Val380Ile						p.V380I	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	1259	-			380					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1138G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.483879	0.84854	.	.	ENSG00000181786	ENST00000324436	D	0.95001	-3.58	4.51	4.51	0.55191	.	0.177271	0.26582	U	0.023573	D	0.97179	0.9078	M	0.86097	2.795	0.46654	D	0.999141	D	0.89917	1.0	D	0.67548	0.952	D	0.97833	1.0264	10	0.87932	D	0	.	16.3263	0.82983	0.0:1.0:0.0:0.0	.	380	Q8TC94	ACTL9_HUMAN	I	380	ENSP00000316674:V380I	ENSP00000316674:V380I	V	-	1	0	ACTL9	8668914	1.000000	0.71417	0.951000	0.38953	0.605000	0.37080	7.158000	0.77470	2.507000	0.84556	0.457000	0.33378	GTA		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525	
RYR1	6261	broad.mit.edu	37	19	38964245	38964245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:38964245G>A	ENST00000359596.3	+	28	3994	c.3994G>A	c.(3994-3996)Gaa>Aaa	p.E1332K	RYR1_ENST00000355481.4_Missense_Mutation_p.E1332K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1332K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1332	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)	CCCTGACTACGAAAACCTGCG	0.746																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3994-3996)GAA>AAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)																																			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.chr19:38964245G>A	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.3994G>A	19.37:g.38964245G>A	ENSP00000352608:p.Glu1332Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E1332K	p.E1332K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	4124	+	all_cancers(60;7.91e-06)		1332			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3994G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501704	0.64298	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97066	-4.23;-4.23;-4.23	5.07	3.96	0.45880	.	0.000000	0.64402	U	0.000002	D	0.97259	0.9104	L	0.50333	1.59	0.44155	D	0.996958	D;B	0.89917	1.0;0.119	D;B	0.79108	0.992;0.029	D	0.96627	0.9464	10	0.52906	T	0.07	.	11.5125	0.50502	0.0:0.0:0.8206:0.1793	.	1332;1332	P21817-2;P21817	.;RYR1_HUMAN	K	1332	ENSP00000352608:E1332K;ENSP00000347667:E1332K;ENSP00000354254:E1332K	ENSP00000347667:E1332K	E	+	1	0	RYR1	43656085	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	6.489000	0.73641	2.349000	0.79799	0.462000	0.41574	GAA		0.746	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	39076773	39076773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:39076773A>G	ENST00000359596.3	+	104	14911	c.14911A>G	c.(14911-14913)Acg>Gcg	p.T4971A	RYR1_ENST00000355481.4_Missense_Mutation_p.T4966A|RYR1_ENST00000360985.3_Missense_Mutation_p.T4966A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4971					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)	CTACTTTGATACGACACCGCA	0.557																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14911-14913)ACG>GCG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						115.0	88.0	97.0					19																	39076773		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.chr19:39076773A>G	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.14911A>G	19.37:g.39076773A>G	ENSP00000352608:p.Thr4971Ala					RYR1_uc002oiu.2_Missense_Mutation_p.T4966A	p.T4971A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		104	15041	+	all_cancers(60;7.91e-06)		4971					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14911A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	6.853	0.526720	0.13066	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96685	-4.09;-4.09;-4.08	4.21	2.02	0.26589	.	0.000000	0.64402	U	0.000001	D	0.88749	0.6521	N	0.10972	0.075	0.39726	D	0.971547	B;B	0.30914	0.3;0.199	B;B	0.26094	0.066;0.03	T	0.82321	-0.0515	10	0.39692	T	0.17	.	9.0432	0.36329	0.7073:0.0:0.0:0.2927	.	4966;4971	P21817-2;P21817	.;RYR1_HUMAN	A	4971;4966;4966	ENSP00000352608:T4971A;ENSP00000347667:T4966A;ENSP00000354254:T4966A	ENSP00000347667:T4966A	T	+	1	0	RYR1	43768613	0.989000	0.36119	0.030000	0.17652	0.202000	0.24057	3.239000	0.51360	0.153000	0.19213	0.529000	0.55759	ACG		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CYP2F1	1572	broad.mit.edu	37	19	41630676	41630676	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:41630676G>A	ENST00000331105.2	+	8	1089	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	339					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|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)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCTGCCGGCGCTGAAGGACC	0.672																																						uc002opu.1																			0					0						c.(1015-1017)GCG>GCA		cytochrome P450, family 2, subfamily F,							20.0	20.0	20.0					19																	41630676		2202	4297	6499	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630676G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1017G>A	19.37:g.41630676G>A						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R320H|CYP2F1_uc002opv.1_RNA	p.A339A	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1073	+			339					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1017G>A	CCDS12572.1																																																																																				0.672	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
CCDC155	147872	broad.mit.edu	37	19	49900952	49900952	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:49900952G>T	ENST00000447857.3	+	6	650	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	149						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGCTTCGGAGGCGAAGACCC	0.622																																						uc002pnm.1																			0				ovary(1)|central_nervous_system(1)	2						c.(445-447)GGC>TGC		coiled-coil domain containing 155							100.0	116.0	111.0					19																	49900952		1994	4155	6149	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49900952G>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.445G>T	19.37:g.49900952G>T	ENSP00000404220:p.Gly149Cys					CCDC155_uc002pnl.1_Missense_Mutation_p.G149C|CCDC155_uc010emx.1_Missense_Mutation_p.G122C	p.G149C	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			6	619	+			149					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.445G>T	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240800	0.58995	.	.	ENSG00000161609	ENST00000447857	T	0.36878	1.23	4.76	4.76	0.60689	.	0.077205	0.49305	D	0.000155	T	0.58793	0.2147	M	0.73598	2.24	0.29370	N	0.864062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.971	T	0.58532	-0.7620	10	0.72032	D	0.01	-17.0394	13.447	0.61146	0.0:0.0:1.0:0.0	.	149;149;229	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	C	149	ENSP00000404220:G149C	ENSP00000404220:G149C	G	+	1	0	CCDC155	54592764	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.467000	0.60155	2.632000	0.89209	0.561000	0.74099	GGC		0.622	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688	
TMC4	147798	broad.mit.edu	37	19	54667515	54667515	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr19:54667515C>A	ENST00000376591.4	-	8	1367	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.K406N|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	412					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGCAATGAGCTTGAACACGG	0.562											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc010erf.2																			0				pancreas(1)	1						c.(1234-1236)AAG>AAT		transmembrane channel-like 4 isoform 1							106.0	99.0	101.0					19																	54667515		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54667515C>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1236G>T	19.37:g.54667515C>A	ENSP00000365776:p.Lys412Asn		OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	TMC4_uc002qdn.2_Missense_Mutation_p.A103S|TMC4_uc002qdo.2_Missense_Mutation_p.K406N	p.K412N	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			8	1368	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		412			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1236G>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	C	3.057	-0.194024	0.06259	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.47869	0.83;0.83	5.01	-0.809	0.10864	.	0.736160	0.13737	N	0.366236	T	0.39784	0.1091	L	0.42245	1.32	0.09310	N	0.99999	B;B	0.09022	0.002;0.0	B;B	0.10450	0.001;0.005	T	0.34229	-0.9837	10	0.21014	T	0.42	-1.8059	17.7276	0.88369	0.0:0.4758:0.5242:0.0	.	412;406	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	N	406;412	ENSP00000301187:K406N;ENSP00000365776:K412N	ENSP00000301187:K406N	K	-	3	2	TMC4	59359327	0.051000	0.20477	0.906000	0.35671	0.057000	0.15508	-0.088000	0.11198	0.199000	0.20427	-0.693000	0.03709	AAG		0.562	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
SLC30A3	7781	broad.mit.edu	37	2	27481034	27481034	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:27481034C>T	ENST00000233535.4	-	3	771	c.419G>A	c.(418-420)cGt>cAt	p.R140H	SLC30A3_ENST00000447008.2_Missense_Mutation_p.R135H	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	140					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCTGAACGGTGCCAGCC	0.642																																						uc002rjk.2																			0					0						c.(418-420)CGT>CAT		solute carrier family 30 (zinc transporter),							70.0	76.0	74.0					2																	27481034		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481034C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.419G>A	2.37:g.27481034C>T	ENSP00000233535:p.Arg140His					SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.R135H	p.R140H	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			3	605	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		140			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.419G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370315	0.95900	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94223	0.7469	10	0.87932	D	0	-29.3886	17.5007	0.87731	0.0:1.0:0.0:0.0	.	135;140	F5H3B7;Q99726	.;ZNT3_HUMAN	H	140;135;91;127;118;91;91	ENSP00000233535:R140H;ENSP00000415226:R135H;ENSP00000414320:R91H;ENSP00000393545:R127H;ENSP00000403959:R118H;ENSP00000403912:R91H;ENSP00000392673:R91H	ENSP00000233535:R140H	R	-	2	0	SLC30A3	27334538	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.796000	0.85898	2.815000	0.96918	0.561000	0.74099	CGT		0.642	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		
CTNNA2	1496	broad.mit.edu	37	2	79971613	79971613	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:79971613C>G	ENST00000402739.4	+	2	208	c.203C>G	c.(202-204)aCt>aGt	p.T68S	CTNNA2_ENST00000496558.1_Missense_Mutation_p.T68S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T68S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T68S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T68S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T102S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	68					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGCAAGCCACTCAGAATTTC	0.473																																						uc010ysh.1																			0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(202-204)ACT>AGT		catenin, alpha 2 isoform 1							83.0	85.0	84.0					2																	79971613		1943	4145	6088	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971613C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.203C>G	2.37:g.79971613C>G	ENSP00000384638:p.Thr68Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysf.1_Missense_Mutation_p.T68S|CTNNA2_uc010ysg.1_Missense_Mutation_p.T68S	p.T68S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	208	+			68					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.203C>G		.	.	.	.	.	.	.	.	.	.	C	25.6	4.654410	0.88056	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.44881	0.91;0.91;1.13;0.91;0.91;0.91;0.91	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	M	0.85630	2.765	0.80722	D	1	B;P;P	0.36392	0.387;0.551;0.551	B;B;B	0.39660	0.249;0.306;0.306	T	0.57069	-0.7874	10	0.39692	T	0.17	.	16.8625	0.86021	0.0:1.0:0.0:0.0	.	68;68;68	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	S	68;68;68;102;68;68;68	ENSP00000418191:T68S;ENSP00000419295:T68S;ENSP00000387073:T68S;ENSP00000355398:T102S;ENSP00000384638:T68S;ENSP00000444675:T68S;ENSP00000441705:T68S	ENSP00000355398:T102S	T	+	2	0	CTNNA2	79825121	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.582000	0.87167	0.460000	0.39030	ACT		0.473	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
PSD4	23550	broad.mit.edu	37	2	113942578	113942578	+	Silent	SNP	C	C	T	rs373584220	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:113942578C>T	ENST00000245796.6	+	3	1296	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PSD4_ENST00000441564.3_Silent_p.D367D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	367					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						cgtgtgtggacgaagcattga	0.547													C|||	4	0.000798722	0.0	0.0	5008	,	,		21949	0.0		0.0	False		,,,				2504	0.0041					uc002tjc.2																			0				ovary(2)	2						c.(1099-1101)GAC>GAT		pleckstrin and Sec7 domain containing 4							276.0	249.0	258.0					2																	113942578		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942578C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1101C>T	2.37:g.113942578C>T						PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D366D|PSD4_uc002tjf.2_Translation_Start_Site	p.D367D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			3	1284	+			367					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.1101C>T	CCDS33276.1																																																																																				0.547	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																						uc010yxx.1																			0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A	rs577981820		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16012	0.001		0.0	False		,,,				2504	0.0					uc002wpo.2																			0				central_nervous_system(1)	1						c.(640-642)ACG>ATG		filensin isoform 1							11.0	11.0	11.0					20																	17489628		2199	4280	6479	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17489628G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.641C>T	20.37:g.17489628G>A	ENSP00000367104:p.Thr214Met					BFSP1_uc002wpp.2_Missense_Mutation_p.T89M|BFSP1_uc010zrn.1_Missense_Mutation_p.T75M|BFSP1_uc010zro.1_Missense_Mutation_p.T75M	p.T214M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			5	680	-			214			Rod.|Coil 2.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.641C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432587	0.25813	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87256	-2.23;1.44;1.44;1.44	5.35	2.37	0.29283	.	0.364685	0.30940	N	0.008569	T	0.80215	0.4582	M	0.63428	1.95	0.20074	N	0.999935	P;P	0.46859	0.789;0.885	B;B	0.31337	0.128;0.086	T	0.71928	-0.4444	10	0.62326	D	0.03	-10.1934	9.6988	0.40173	0.2284:0.0:0.7716:0.0	.	89;214	Q12934-2;Q12934	.;BFSP1_HUMAN	M	214;89;75;75	ENSP00000367104:T214M;ENSP00000367099:T89M;ENSP00000442522:T75M;ENSP00000439870:T75M	ENSP00000367099:T89M	T	-	2	0	BFSP1	17437628	1.000000	0.71417	0.047000	0.18901	0.664000	0.39144	4.773000	0.62331	0.348000	0.23949	-0.266000	0.10368	ACG		0.647	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195	
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						uc002zfm.2																			5	Substitution - coding silent(5)		endometrium(3)|urinary_tract(1)|prostate(1)		0						c.(964-966)TCC>TCT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S322S	NM_198688	NP_941961	P60371	KR106_HUMAN			1	987	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
SEMA3F	6405	broad.mit.edu	37	3	50211752	50211752	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:50211752G>T	ENST00000002829.3	+	5	909	c.425G>T	c.(424-426)tGc>tTc	p.C142F	SEMA3F_ENST00000434342.1_Missense_Mutation_p.C142F|SEMA3F_ENST00000413852.1_Missense_Mutation_p.C74F|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	142	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AACCCCATGTGCACCTATGTG	0.662																																						uc003cyj.2																			0				lung(1)|skin(1)	2						c.(424-426)TGC>TTC		semaphorin 3F precursor							78.0	77.0	77.0					3																	50211752		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50211752G>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.425G>T	3.37:g.50211752G>T	ENSP00000002829:p.Cys142Phe					SEMA3F_uc003cyk.2_Missense_Mutation_p.C142F	p.C142F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	5	623	+			142			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.425G>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059120	0.76074	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.247728	0.56097	D	0.000031	T	0.76800	0.4038	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85078	0.0944	10	0.87932	D	0	.	15.4406	0.75178	0.0:0.1393:0.8607:0.0	.	142;142	C9JQ85;Q13275	.;SEM3F_HUMAN	F	142;142;74;142;142;106	ENSP00000392588:C142F;ENSP00000398399:C142F;ENSP00000388931:C74F;ENSP00000002829:C142F;ENSP00000409859:C142F;ENSP00000416356:C106F	ENSP00000002829:C142F	C	+	2	0	SEMA3F	50186756	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.566000	0.98157	2.596000	0.87737	0.561000	0.74099	TGC		0.662	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186	
STAB1	23166	broad.mit.edu	37	3	52551965	52551965	+	Silent	SNP	C	C	T	rs375629208		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:52551965C>T	ENST00000321725.6	+	45	4783	c.4707C>T	c.(4705-4707)tgC>tgT	p.C1569C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1569	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATGTACCTGCGACACAGCCC	0.602																																						uc003dej.2																			0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(4705-4707)TGC>TGT		stabilin 1 precursor		C		0,4406		0,0,2203	67.0	64.0	65.0		4707	-4.3	0.5	3		65	1,8599		0,1,4299	no	coding-synonymous	STAB1	NM_015136.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1569/2571	52551965	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551965C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4707C>T	3.37:g.52551965C>T						STAB1_uc003dek.1_5'Flank	p.C1569C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	45	4781	+			1569			Extracellular (Potential).|EGF-like 13.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4707C>T	CCDS33768.1																																																																																				0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
STXBP5L	9515	broad.mit.edu	37	3	120976020	120976020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:120976020C>T	ENST00000273666.6	+	17	1943	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R558*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R558*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R558*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R558*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	558					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTAGAGGTACGACTTCAGTA	0.318																																						uc003eec.3																			0				ovary(7)|skin(2)	9						c.(1672-1674)CGA>TGA		syntaxin binding protein 5-like							95.0	92.0	93.0					3																	120976020		1820	4077	5897	SO:0001587	stop_gained	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976020C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1672C>T	3.37:g.120976020C>T	ENSP00000273666:p.Arg558*					STXBP5L_uc011bji.1_Nonsense_Mutation_p.R558*	p.R558*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	1812	+			558			WD 9.		Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	c.1672C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	38	7.012818	0.98002	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	.	.	.	5.49	5.49	0.81192	.	0.133960	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-13.9385	19.7341	0.96195	0.0:1.0:0.0:0.0	.	.	.	.	X	558	.	ENSP00000273666:R558X	R	+	1	2	STXBP5L	122458710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.640000	0.74319	2.732000	0.93576	0.585000	0.79938	CGA		0.318	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
HPS3	84343	broad.mit.edu	37	3	148868439	148868439	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:148868439A>G	ENST00000296051.2	+	6	1357	c.1217A>G	c.(1216-1218)gAg>gGg	p.E406G	HPS3_ENST00000460120.1_Missense_Mutation_p.E241G	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	406					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCTCGTGAGGAGGACCCGTAC	0.512									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				ovary(5)|large_intestine(1)	6						c.(1216-1218)GAG>GGG		Hermansky-Pudlak syndrome 3 protein							131.0	116.0	121.0					3																	148868439		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868439A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1217A>G	3.37:g.148868439A>G	ENSP00000296051:p.Glu406Gly					HPS3_uc003ewt.1_Missense_Mutation_p.E406G|HPS3_uc011bnq.1_Missense_Mutation_p.E241G	p.E406G	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1357	+			406					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1217A>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020649	0.54576	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.65549	-0.16;-0.16	5.27	4.07	0.47477	.	0.175760	0.48767	D	0.000174	T	0.56673	0.2001	M	0.63843	1.955	0.32809	D	0.501167	B;B	0.21452	0.056;0.027	B;B	0.23275	0.045;0.045	T	0.65903	-0.6055	10	0.56958	D	0.05	-8.4417	8.7755	0.34758	0.7557:0.1704:0.074:0.0	.	241;406	G5E9V4;Q969F9	.;HPS3_HUMAN	G	406;241	ENSP00000296051:E406G;ENSP00000418230:E241G	ENSP00000296051:E406G	E	+	2	0	HPS3	150351129	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.960000	0.49161	2.119000	0.64992	0.528000	0.53228	GAG		0.512	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
BCL6	604	broad.mit.edu	37	3	187440292	187440292	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr3:187440292C>T	ENST00000406870.2	-	10	2441	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	BCL6_ENST00000232014.4_Missense_Mutation_p.R692H|BCL6_ENST00000450123.2_Missense_Mutation_p.R636H|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	692					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCTGACACGCGGTATTGCAC	0.552			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(2074-2076)CGC>CAC		B-cell lymphoma 6 protein isoform 1							132.0	117.0	122.0					3																	187440292		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187440292C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.2075G>A	3.37:g.187440292C>T	ENSP00000384371:p.Arg692His					BCL6_uc011bsf.1_Missense_Mutation_p.R636H|BCL6_uc010hza.2_Missense_Mutation_p.R590H|BCL6_uc003frq.1_Missense_Mutation_p.R692H	p.R692H	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	10	2532	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		692					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.2075G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287751	0.80803	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09445	2.98;2.98;3.05	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.987	T	0.00187	-1.1941	10	0.72032	D	0.01	.	19.0733	0.93148	0.0:1.0:0.0:0.0	.	636;692	B8PSA7;P41182	.;BCL6_HUMAN	H	692;692;636	ENSP00000384371:R692H;ENSP00000232014:R692H;ENSP00000413122:R636H	ENSP00000232014:R692H	R	-	2	0	BCL6	188922986	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	6.047000	0.71038	2.758000	0.94735	0.650000	0.86243	CGC		0.552	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
CPZ	8532	broad.mit.edu	37	4	8605853	8605853	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr4:8605853G>A	ENST00000360986.4	+	4	821	c.647G>A	c.(646-648)aGc>aAc	p.S216N	CPZ_ENST00000315782.6_Missense_Mutation_p.S205N|CPZ_ENST00000382480.2_Missense_Mutation_p.S79N|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	216					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCGGGCGCAGCTTCGACGGC	0.687																																						uc003glm.2																			0				ovary(2)|pancreas(1)	3						c.(646-648)AGC>AAC		carboxypeptidase Z isoform 1							15.0	14.0	14.0					4																	8605853		2191	4285	6476	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605853G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.647G>A	4.37:g.8605853G>A	ENSP00000354255:p.Ser216Asn					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.S79N|CPZ_uc003glo.2_Missense_Mutation_p.S205N|CPZ_uc003glp.2_RNA	p.S216N	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			4	773	+			216					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.647G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852557	0.91355	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.31510	1.49;1.49;1.49	3.86	3.86	0.44501	Peptidase M14, carboxypeptidase A (2);	0.095565	0.64402	D	0.000001	T	0.64843	0.2635	M	0.94142	3.5	0.80722	D	1	D;D	0.61080	0.979;0.989	P;D	0.65773	0.846;0.938	T	0.78226	-0.2286	10	0.87932	D	0	-29.0017	15.9374	0.79723	0.0:0.0:1.0:0.0	.	205;216	Q66K79-2;Q66K79	.;CBPZ_HUMAN	N	216;79;205	ENSP00000354255:S216N;ENSP00000371920:S79N;ENSP00000315074:S205N	ENSP00000315074:S205N	S	+	2	0	CPZ	8656753	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.613000	0.74192	1.973000	0.57446	0.555000	0.69702	AGC		0.687	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
IL21	59067	broad.mit.edu	37	4	123542199	123542199	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr4:123542199G>A	ENST00000264497.3	-	0	25				IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21						cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CCTTGGTCTCGTTTTCACTTC	0.463																																						uc003ies.2																			0					0						c.(-34--30)AACGA>AATGA		interleukin 21							91.0	86.0	88.0					4																	123542199		2203	4300	6503			59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542199G>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.-33C>T	4.37:g.123542199G>A						uc003iet.2_RNA|IL21_uc010int.2_Translation_Start_Site		NM_021803	NP_068575	Q9HBE4	IL21_HUMAN			1	13	-								A5J0L4	Translation_Start_Site	SNP	ENST00000264497.3	37	c.-32C>T	CCDS3727.1																																																																																				0.463	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803	
PRDM9	56979	broad.mit.edu	37	5	23527680	23527680	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:23527680G>T	ENST00000296682.3	+	11	2665	c.2483G>T	c.(2482-2484)gGg>gTg	p.G828V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	828					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.582										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2482-2484)GGG>GTG		PR domain containing 9							42.0	55.0	50.0					5																	23527680		2155	4276	6431	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527680G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2483G>T	5.37:g.23527680G>T	ENSP00000296682:p.Gly828Val	HNSCC(3;0.000094)					p.G828V	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2665	+			828					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2483G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341243	0.24339	.	.	ENSG00000164256	ENST00000296682	T	0.23552	1.9	3.02	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43033	0.1229	M	0.69823	2.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.29610	-1.0006	9	0.87932	D	0	-6.4618	5.4205	0.16398	0.1192:0.0:0.6816:0.1992	.	828	Q9NQV7	PRDM9_HUMAN	V	828	ENSP00000296682:G828V	ENSP00000296682:G828V	G	+	2	0	PRDM9	23563437	0.998000	0.40836	0.994000	0.49952	0.125000	0.20455	2.379000	0.44318	0.307000	0.22880	-0.575000	0.04146	GGG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ARHGEF28	64283	broad.mit.edu	37	5	73090229	73090229	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:73090229A>G	ENST00000426542.2	+	7	933	c.913A>G	c.(913-915)Att>Gtt	p.I305V	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.I305V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.I305V|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.I305V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.I305V|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.I305V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	305					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TTTTGCAGAGATTAAGAATTC	0.398																																						uc011csq.1																			0					0						c.(913-915)ATT>GTT		Rho-guanine nucleotide exchange factor							56.0	58.0	58.0					5																	73090229		1849	4105	5954	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73090229A>G		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.913A>G	5.37:g.73090229A>G	ENSP00000412175:p.Ile305Val					RGNEF_uc003kcx.2_Missense_Mutation_p.I305V|RGNEF_uc003kcy.1_Missense_Mutation_p.I305V|RGNEF_uc010izf.2_Missense_Mutation_p.I305V	p.I305V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	7	924	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	305					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.913A>G	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-2.935888	0.00052	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.08896	3.3;3.3;3.3;3.04;3.3;3.3	5.71	-11.4	0.00090	.	.	.	.	.	T	0.02119	0.0066	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.001	T	0.33369	-0.9871	9	0.09084	T	0.74	.	1.9758	0.03415	0.2859:0.2469:0.3139:0.1532	.	305;305;305;305	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	V	305	ENSP00000296794:I305V;ENSP00000441913:I305V;ENSP00000441436:I305V;ENSP00000287898:I305V;ENSP00000411459:I305V;ENSP00000412175:I305V	ENSP00000287898:I305V	I	+	1	0	RP11-428C6.1	73125985	0.847000	0.29606	0.057000	0.19452	0.005000	0.04900	-0.426000	0.07008	-2.757000	0.00371	-3.847000	0.00018	ATT		0.398	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
PCDHGB3	56102	broad.mit.edu	37	5	140750263	140750263	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr5:140750263C>T	ENST00000576222.1	+	1	433	c.302C>T	c.(301-303)aCg>aTg	p.T101M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	101	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGTCGACGTGTGTTCTG	0.433																																						uc003ljw.1																			0					0						c.(301-303)ACG>ATG		protocadherin gamma subfamily B, 3 isoform 1							174.0	175.0	175.0					5																	140750263		1863	4115	5978	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750263C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.302C>T	5.37:g.140750263C>T	ENSP00000461862:p.Thr101Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.T101M	p.T101M	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	302	+			101			Extracellular (Potential).|Cadherin 1.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.302C>T	CCDS58980.1																																																																																				0.433	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
KIF13A	63971	broad.mit.edu	37	6	17804730	17804730	+	Silent	SNP	G	G	T	rs370724684		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:17804730G>T	ENST00000259711.6	-	20	2421	c.2316C>A	c.(2314-2316)ctC>ctA	p.L772L	KIF13A_ENST00000378826.2_Silent_p.L772L|KIF13A_ENST00000378816.5_Silent_p.L772L|KIF13A_ENST00000378843.2_Silent_p.L772L|KIF13A_ENST00000378814.5_Silent_p.L772L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	772					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTTTCCGTAGAGTCTCTTTG	0.393																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(2314-2316)CTC>CTA		kinesin family member 13A isoform a							63.0	60.0	61.0					6																	17804730		1927	4135	6062	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17804730G>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2316C>A	6.37:g.17804730G>T						KIF13A_uc003ncf.2_Silent_p.L772L|KIF13A_uc003nch.3_Silent_p.L772L|KIF13A_uc003nci.3_Silent_p.L772L	p.L772L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		20	2421	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	772			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2316C>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	3.076	-0.190050	0.06299	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.88	0.759	0.18438	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.51767	D	0.999933	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	9.8235	0.40896	0.1786:0.5216:0.2998:0.0	.	.	.	.	Y	166	.	.	S	-	2	0	KIF13A	17912709	0.648000	0.27313	0.395000	0.26283	0.595000	0.36748	0.087000	0.14958	-0.141000	0.11374	0.555000	0.69702	TCT		0.393	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
GFRAL	389400	broad.mit.edu	37	6	55198595	55198595	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:55198595C>A	ENST00000340465.2	+	3	255	c.169C>A	c.(169-171)Ccc>Acc	p.P57T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	57					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)		p.P57S(1)		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)			TCCAGGTGACCCCTGCAAGAT	0.353																																						uc003pcm.1																			1	Substitution - Missense(1)		kidney(1)	ovary(1)|breast(1)	2						c.(169-171)CCC>ACC		GDNF family receptor alpha like precursor							131.0	130.0	130.0					6																	55198595		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198595C>A	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.169C>A	6.37:g.55198595C>A	ENSP00000343636:p.Pro57Thr						p.P57T	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	255	+	Lung NSC(77;0.0875)|Renal(3;0.122)		57			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.169C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	5.278	0.236624	0.10023	.	.	ENSG00000187871	ENST00000340465	T	0.29655	1.56	5.5	-6.19	0.02078	GDNF/GAS1 (1);	0.933586	0.09040	N	0.857491	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40098	-0.9581	10	0.11182	T	0.66	-14.9491	4.1877	0.10405	0.5953:0.1494:0.1069:0.1484	.	57	Q6UXV0	GFRAL_HUMAN	T	57	ENSP00000343636:P57T	ENSP00000343636:P57T	P	+	1	0	GFRAL	55306554	0.000000	0.05858	0.140000	0.22221	0.823000	0.46562	-0.548000	0.06048	-0.944000	0.03686	-0.158000	0.13435	CCC		0.353	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
GFRAL	389400	broad.mit.edu	37	6	55198620	55198620	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:55198620A>G	ENST00000340465.2	+	3	280	c.194A>G	c.(193-195)tAc>tGc	p.Y65C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	65					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)			AATTCATCATACTGTAACCTG	0.373																																						uc003pcm.1																			0				ovary(1)|breast(1)	2						c.(193-195)TAC>TGC		GDNF family receptor alpha like precursor							137.0	137.0	137.0					6																	55198620		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198620A>G	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.194A>G	6.37:g.55198620A>G	ENSP00000343636:p.Tyr65Cys						p.Y65C	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	280	+	Lung NSC(77;0.0875)|Renal(3;0.122)		65			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.194A>G	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	7.191	0.591521	0.13812	.	.	ENSG00000187871	ENST00000340465	T	0.29917	1.55	5.39	-7.39	0.01402	GDNF/GAS1 (1);	1.104040	0.06729	N	0.776336	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	P	0.42123	0.771	B	0.23852	0.049	T	0.31194	-0.9952	10	0.37606	T	0.19	-19.1908	3.0348	0.06118	0.545:0.22:0.1252:0.1098	.	65	Q6UXV0	GFRAL_HUMAN	C	65	ENSP00000343636:Y65C	ENSP00000343636:Y65C	Y	+	2	0	GFRAL	55306579	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.571000	0.05889	-1.550000	0.01708	0.528000	0.53228	TAC		0.373	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
PRSS35	167681	broad.mit.edu	37	6	84234372	84234372	+	Silent	SNP	C	C	T	rs535446593	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr6:84234372C>T	ENST00000369700.3	+	2	1389	c.1212C>T	c.(1210-1212)caC>caT	p.H404H	PRSS35_ENST00000536636.1_Silent_p.H404H	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	404	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCTGGATTCACGGGAACGATG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.002					uc003pjz.2																			0				ovary(1)	1						c.(1210-1212)CAC>CAT		protease, serine, 35 precursor							58.0	42.0	47.0					6																	84234372		2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234372C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1212C>T	6.37:g.84234372C>T						PRSS35_uc010kbm.2_Silent_p.H404H	p.H404H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1375	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	404			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.1212C>T	CCDS4999.1																																																																																				0.512	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
THSD7A	221981	broad.mit.edu	37	7	11485827	11485827	+	Silent	SNP	T	T	A	rs79441692	byFrequency	TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:11485827T>A	ENST00000423059.4	-	13	3176	c.2925A>T	c.(2923-2925)ccA>ccT	p.P975P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	975	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTTTCCCTCTGGTAAAATAC	0.423										HNSCC(18;0.044)																												uc003ssf.3																			0				ovary(3)	3						c.(2923-2925)CCA>CCT		thrombospondin, type I, domain containing 7A							253.0	235.0	241.0					7																	11485827		1908	4137	6045	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11485827T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2925A>T	7.37:g.11485827T>A		HNSCC(18;0.044)					p.P975P	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3177	-			975			TSP type-1 10.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.2925A>T	CCDS47543.1																																																																																				0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:41729399C>T	ENST00000242208.4	-	3	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_ENST00000442711.1_Missense_Mutation_p.R377H|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	377				RMR -> AC (in Ref. 7; CAA51163). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R377H(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		large_intestine(1)	lung(5)|ovary(1)	6						c.(1129-1131)CGC>CAC		inhibin beta A precursor							130.0	115.0	120.0					7																	41729399		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729399C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1130G>A	7.37:g.41729399C>T	ENSP00000242208:p.Arg377His	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.R377H	p.R377H	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1365	-			377	RMR -> AC (in Ref. 7; CAA51163).				Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1130G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.430177	0.83776	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62498	0.02;0.02	5.86	5.86	0.93980	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79505	-0.1776	10	0.51188	T	0.08	-23.9854	20.1781	0.98191	0.0:1.0:0.0:0.0	.	377	P08476	INHBA_HUMAN	H	377	ENSP00000242208:R377H;ENSP00000397197:R377H	ENSP00000242208:R377H	R	-	2	0	INHBA	41695924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.778000	0.95560	0.591000	0.81541	CGC		0.547	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GCK	2645	broad.mit.edu	37	7	44186119	44186119	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:44186119G>C	ENST00000403799.3	-	8	1431	c.962C>G	c.(961-963)tCc>tGc	p.S321C	GCK_ENST00000395796.3_Missense_Mutation_p.S320C|GCK_ENST00000437084.1_Missense_Mutation_p.S304C|GCK_ENST00000345378.2_Missense_Mutation_p.S322C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	321	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGCTGCTCGGAGGCCTCCCC	0.647																																						uc003tkl.2																			0				skin(3)|lung(1)	4						c.(961-963)TCC>TGC		glucokinase isoform 1							76.0	69.0	71.0					7																	44186119		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44186119G>C	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.962C>G	7.37:g.44186119G>C	ENSP00000384247:p.Ser321Cys					GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.S320C|GCK_uc003tkk.1_Missense_Mutation_p.S322C	p.S321C	NM_000162	NP_000153	P35557	HXK4_HUMAN			8	1432	-			321					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.962C>G	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728467	0.48833	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	4.77	4.77	0.60923	Hexokinase, C-terminal (1);	0.118293	0.64402	D	0.000015	D	0.96953	0.9005	L	0.58669	1.825	0.80722	D	1	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.14023	0.004;0.01;0.001	D	0.95333	0.8431	10	0.59425	D	0.04	-1.8914	17.3954	0.87443	0.0:0.0:1.0:0.0	.	321;322;320	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	C	321;320;322;304	ENSP00000384247:S321C;ENSP00000379142:S320C;ENSP00000223366:S322C;ENSP00000402840:S304C	ENSP00000223366:S322C	S	-	2	0	GCK	44152644	1.000000	0.71417	0.695000	0.30226	0.009000	0.06853	5.556000	0.67307	2.191000	0.70037	0.591000	0.81541	TCC		0.647	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
ADCY1	107	broad.mit.edu	37	7	45719321	45719321	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:45719321C>G	ENST00000297323.7	+	11	1934	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	638					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGGTCGTCCTGCTCCTGCT	0.577																																						uc003tne.3																			0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1912-1914)CTG>GTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						270.0	210.0	231.0					7																	45719321		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45719321C>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1912C>G	7.37:g.45719321C>G	ENSP00000297323:p.Leu638Val						p.L638V	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			11	1930	+			638			Helical; (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1912C>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749812	0.49257	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.50548	0.74	5.02	3.15	0.36227	.	0.000000	0.64402	D	0.000001	T	0.41096	0.1144	L	0.58669	1.825	0.51767	D	0.99993	B	0.23316	0.083	B	0.20955	0.032	T	0.17228	-1.0376	10	0.29301	T	0.29	.	9.9379	0.41563	0.0:0.8598:0.0:0.1402	.	638	Q08828	ADCY1_HUMAN	V	638	ENSP00000297323:L638V	ENSP00000297323:L638V	L	+	1	2	ADCY1	45685846	1.000000	0.71417	0.857000	0.33713	0.981000	0.71138	3.300000	0.51834	0.485000	0.27652	0.591000	0.81541	CTG		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
WBSCR17	64409	broad.mit.edu	37	7	71175875	71175875	+	Missense_Mutation	SNP	G	G	A	rs143185553		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:71175875G>A	ENST00000333538.5	+	10	2264	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	544	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGCGACAAGGTCAAGAGCAG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14830	0.0		0.0	False		,,,				2504	0.0					uc003tvy.2																			0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1630-1632)GTC>ATC		UDP-GalNAc:polypeptide		G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	52.0	48.0	49.0		1630	5.3	1.0	7	dbSNP_134	49	0,8600		0,0,4300	yes	missense	WBSCR17	NM_022479.1	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	544/599	71175875	8,12998	2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175875G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1630G>A	7.37:g.71175875G>A	ENSP00000329654:p.Val544Ile					WBSCR17_uc003tvz.2_Missense_Mutation_p.V243I	p.V544I	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			10	1630	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	544			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1630G>A	CCDS5540.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.49	2.847962	0.51164	0.001816	0.0	ENSG00000185274	ENST00000333538	T	0.27256	1.68	5.28	5.28	0.74379	Ricin B-related lectin (1);Ricin B lectin (3);	0.063724	0.64402	D	0.000007	T	0.32645	0.0836	M	0.73598	2.24	0.40309	D	0.978698	B	0.30361	0.277	B	0.36092	0.217	T	0.10543	-1.0625	10	0.38643	T	0.18	.	11.1188	0.48277	0.0839:0.0:0.9161:0.0	.	544	Q6IS24	GLTL3_HUMAN	I	544	ENSP00000329654:V544I	ENSP00000329654:V544I	V	+	1	0	WBSCR17	70813811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.619000	0.67729	2.746000	0.94184	0.655000	0.94253	GTC		0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
FKBP6	8468	broad.mit.edu	37	7	72754748	72754748	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:72754748G>C	ENST00000252037.4	+	6	766	c.697G>C	c.(697-699)Gac>Cac	p.D233H	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.D228H|FKBP6_ENST00000413573.2_Missense_Mutation_p.D203H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	233					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGAAGCTAGACCGACCCAC	0.567																																						uc003tya.2																			0					0						c.(697-699)GAC>CAC		FK506 binding protein 6 isoform a							79.0	81.0	80.0					7																	72754748		1945	4157	6102	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754748G>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.697G>C	7.37:g.72754748G>C	ENSP00000252037:p.Asp233His					FKBP6_uc003twz.2_Missense_Mutation_p.D203H|FKBP6_uc011kew.1_Missense_Mutation_p.D228H|FKBP6_uc010lbe.1_RNA	p.D233H	NM_003602	NP_003593	O75344	FKBP6_HUMAN			6	829	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	233			TPR 2.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.697G>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073562	0.36566	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	4.91	4.0	0.46444	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.281483	0.38492	N	0.001677	T	0.66684	0.2814	L	0.44542	1.39	0.37252	D	0.906603	B;B;B	0.23540	0.087;0.003;0.025	B;B;B	0.23275	0.045;0.01;0.01	T	0.67562	-0.5639	10	0.52906	T	0.07	-3.4279	12.4623	0.55738	0.0:0.1685:0.8315:0.0	.	228;233;203	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	H	228;188;203;233	ENSP00000416277:D228H;ENSP00000402360:D188H;ENSP00000394952:D203H;ENSP00000252037:D233H	ENSP00000252037:D233H	D	+	1	0	FKBP6	72392684	1.000000	0.71417	0.942000	0.38095	0.873000	0.50193	3.707000	0.54838	1.034000	0.39945	0.563000	0.77884	GAC		0.567	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602	
CCDC132	55610	broad.mit.edu	37	7	92886757	92886757	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:92886757A>G	ENST00000305866.5	+	6	531	c.403A>G	c.(403-405)Atc>Gtc	p.I135V	CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.I135V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.I105V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	135						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTGCTGTTATCTGTACAAA	0.313																																						uc003umo.2																			0					0						c.(403-405)ATC>GTC		coiled-coil domain containing 132 isoform a							108.0	102.0	104.0					7																	92886757		2203	4297	6500	SO:0001583	missense	55610							g.chr7:92886757A>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.403A>G	7.37:g.92886757A>G	ENSP00000307666:p.Ile135Val					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.I105V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.I135V	p.I135V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		6	531	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		135					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.403A>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122472	0.77436	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.28	5.28	0.74379	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.31845	0.965	0.80722	D	1	P;P;B	0.51449	0.945;0.898;0.104	P;D;B	0.68192	0.698;0.956;0.19	T	0.62324	-0.6878	9	0.30078	T	0.28	-10.9334	15.5253	0.75898	1.0:0.0:0.0:0.0	.	105;135;135	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	V	135;135;105;134	.	ENSP00000251739:I135V	I	+	1	0	CCDC132	92724693	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.668000	0.74457	2.130000	0.65690	0.477000	0.44152	ATC		0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
LRWD1	222229	broad.mit.edu	37	7	102106694	102106694	+	Silent	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:102106694C>T	ENST00000292616.5	+	3	561	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	137					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGTGGAGAACCTGAATCGGGA	0.522																																						uc003uzn.2																			0				skin(1)	1						c.(409-411)CTG>TTG		leucine-rich repeats and WD repeat domain							100.0	85.0	90.0					7																	102106694		2203	4300	6503	SO:0001819	synonymous_variant	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106694C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.409C>T	7.37:g.102106694C>T						ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	p.L137L	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			3	547	+			137					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	c.409C>T	CCDS34715.1																																																																																				0.522	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
REPIN1	29803	broad.mit.edu	37	7	150069796	150069796	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr7:150069796G>T	ENST00000425389.2	+	1	1544	c.1466G>T	c.(1465-1467)tGc>tTc	p.C489F	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.C489F|REPIN1_ENST00000540729.1_Missense_Mutation_p.C489F|REPIN1_ENST00000397281.2_Missense_Mutation_p.C489F|REPIN1_ENST00000489432.2_Missense_Mutation_p.C546F|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	489					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCTACGTCTGCCCCGACTGC	0.692																																						uc010lpq.1																			0				pancreas(1)	1						c.(1465-1467)TGC>TTC		replication initiator 1 isoform 1							37.0	44.0	42.0					7																	150069796		2201	4299	6500	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069796G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1466G>T	7.37:g.150069796G>T	ENSP00000388287:p.Cys489Phe					REPIN1_uc003whd.2_Missense_Mutation_p.C478F|REPIN1_uc010lpr.1_Missense_Mutation_p.C546F|REPIN1_uc003whc.2_Missense_Mutation_p.C489F|REPIN1_uc003whe.2_Missense_Mutation_p.C489F	p.C489F	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1955	+	Ovarian(565;0.183)|Melanoma(164;0.226)		489			C2H2-type 13.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1466G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680289	0.68042	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95040	0.8394	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96541	0.9400	9	0.87932	D	0	-5.1764	13.8973	0.63781	0.0:0.0:1.0:0.0	.	546;489	C9J3L7;Q9BWE0	.;REPI1_HUMAN	F	489;489;489;546;489	ENSP00000445016:C489F;ENSP00000380451:C489F;ENSP00000407714:C489F;ENSP00000417291:C546F;ENSP00000388287:C489F	ENSP00000380451:C489F	C	+	2	0	REPIN1	149700729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.360000	0.97119	2.142000	0.66516	0.462000	0.41574	TGC		0.692	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
PPP1R3B	79660	broad.mit.edu	37	8	8998667	8998667	+	Silent	SNP	C	C	T	rs138887555		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr8:8998667C>T	ENST00000310455.3	-	2	645	c.495G>A	c.(493-495)acG>acA	p.T165T	PPP1R3B_ENST00000519699.1_Silent_p.T165T|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	165	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGGTGTCGAACGTCATCCTTA	0.502																																						uc003wsn.3																			0				ovary(1)|skin(1)	2						c.(493-495)ACG>ACA		protein phosphatase 1, regulatory (inhibitor)		C	,	0,4406		0,0,2203	241.0	204.0	216.0		495,495	-11.5	0.0	8	dbSNP_134	216	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PPP1R3B	NM_001201329.1,NM_024607.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	165/286,165/286	8998667	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998667C>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.495G>A	8.37:g.8998667C>T						PPP1R3B_uc003wso.3_Silent_p.T164T	p.T165T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	660	-			165			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.495G>A	CCDS5973.1																																																																																				0.502	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607	
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:21206859G>A	ENST00000357374.2	-	1	283	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	80					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L80F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483																																						uc003zoq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CTC>TTC		interferon, alpha 10 precursor							53.0	59.0	57.0					9																	21206859		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206859G>A		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.238C>T	9.37:g.21206859G>A	ENSP00000369566:p.Leu80Phe					IFNA14_uc003zoo.1_Intron	p.L80F	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	284	-			80					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.238C>T	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.015173	0.54468	.	.	ENSG00000186803	ENST00000357374	T	0.04551	3.6	3.75	-0.143	0.13444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.829753	0.10704	N	0.643733	T	0.10465	0.0256	M	0.65498	2.005	0.09310	N	1	B	0.19706	0.038	B	0.39152	0.292	T	0.43130	-0.9410	10	0.62326	D	0.03	.	9.0205	0.36198	0.0:0.6049:0.2565:0.1386	.	80	P01566	IFN10_HUMAN	F	80	ENSP00000369566:L80F	ENSP00000369566:L80F	L	-	1	0	IFNA10	21196859	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	-1.579000	0.02123	0.155000	0.19261	0.499000	0.49734	CTC		0.483	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:21206861A>G	ENST00000357374.2	-	1	281	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488																																						uc003zoq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)GTC>GCC		interferon, alpha 10 precursor							54.0	60.0	58.0					9																	21206861		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206861A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.236T>C	9.37:g.21206861A>G	ENSP00000369566:p.Val79Ala					IFNA14_uc003zoo.1_Intron	p.V79A	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	282	-			79					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.236T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.90	2.968995	0.53614	.	.	ENSG00000186803	ENST00000357374	T	0.04917	3.53	3.75	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.07638	0.0192	L	0.54863	1.705	0.09310	N	1	B	0.16802	0.019	B	0.33454	0.164	T	0.35226	-0.9797	10	0.66056	D	0.02	.	2.8329	0.05505	0.5958:0.0:0.2161:0.1881	.	79	P01566	IFN10_HUMAN	A	79	ENSP00000369566:V79A	ENSP00000369566:V79A	V	-	2	0	IFNA10	21196861	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.641000	0.24720	0.034000	0.15491	0.409000	0.27619	GTC		0.488	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
ZNF483	158399	broad.mit.edu	37	9	114304228	114304228	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chr9:114304228C>G	ENST00000309235.5	+	6	1171	c.1013C>G	c.(1012-1014)cCc>cGc	p.P338R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGCAAGAAACCCTTCAGTTTT	0.413																																						uc004bff.2																			0				skin(1)	1						c.(1012-1014)CCC>CGC		zinc finger protein 483 isoform a							102.0	115.0	111.0					9																	114304228		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304228C>G	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1013C>G	9.37:g.114304228C>G	ENSP00000311679:p.Pro338Arg					ZNF483_uc004bfg.2_Intron	p.P338R	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1237	+			338					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1013C>G	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709140	0.48517	.	.	ENSG00000173258	ENST00000309235	T	0.04706	3.57	4.55	3.64	0.41730	.	0.443760	0.19460	N	0.113705	T	0.04137	0.0115	N	0.17278	0.47	0.80722	D	1	B	0.24533	0.105	B	0.22880	0.042	T	0.45877	-0.9231	10	0.59425	D	0.04	-3.8879	12.9756	0.58537	0.0:0.836:0.164:0.0	.	338	Q8TF39	ZN483_HUMAN	R	338	ENSP00000311679:P338R	ENSP00000311679:P338R	P	+	2	0	ZNF483	113344049	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.433000	0.21477	1.499000	0.48617	0.655000	0.94253	CCC		0.413	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
REPS2	9185	broad.mit.edu	37	X	17157019	17157019	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:17157019C>T	ENST00000357277.3	+	17	2020	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.R616C|REPS2_ENST00000380064.4_Missense_Mutation_p.R416C	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	617	Interaction with ASAP1. {ECO:0000250}.|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AACTGCTATCCGCAAAAATAA	0.483																																						uc004cxv.1																			0				skin(2)|central_nervous_system(1)	3						c.(1849-1851)CGC>TGC		RALBP1 associated Eps domain containing 2							70.0	61.0	64.0					X																	17157019		2203	4299	6502	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17157019C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1849C>T	X.37:g.17157019C>T	ENSP00000349824:p.Arg617Cys					REPS2_uc004cxw.1_Missense_Mutation_p.R616C|REPS2_uc011miw.1_Missense_Mutation_p.R415C	p.R617C	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			17	2020	+	Hepatocellular(33;0.183)		617			Interaction with ASAP1 (By similarity).|Interaction with RALBP1.|Potential.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.1849C>T	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710707	0.68730	.	.	ENSG00000169891	ENST00000357277;ENST00000303843;ENST00000380064	T;T;T	0.63417	0.53;0.51;-0.04	5.3	4.44	0.53790	.	0.000000	0.56097	D	0.000025	T	0.78362	0.4271	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	T	0.80422	-0.1389	10	0.72032	D	0.01	-5.2398	12.9673	0.58492	0.0:0.9185:0.0:0.0815	.	416;616;617	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	C	617;616;416	ENSP00000349824:R617C;ENSP00000306033:R616C;ENSP00000369404:R416C	ENSP00000306033:R616C	R	+	1	0	REPS2	17066940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.101000	0.50283	1.000000	0.39049	0.594000	0.82650	CGC		0.483	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726	
CASK	8573	broad.mit.edu	37	X	41782236	41782236	+	Silent	SNP	G	G	A			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:41782236G>A	ENST00000378163.1	-	1	480	c.6C>T	c.(4-6)gcC>gcT	p.A2A	CASK_ENST00000318588.9_Silent_p.A2A|CASK_ENST00000361962.4_Silent_p.A2A|CASK_ENST00000421587.2_Silent_p.A2A|CASK_ENST00000378166.4_Silent_p.A2A|CASK_ENST00000378154.1_Silent_p.A2A|CASK_ENST00000442742.2_Silent_p.A2A|CASK_ENST00000378158.1_Silent_p.A2A			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	2					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGTCGTCGTCGGCCATGGTCC	0.642																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3																			0				ovary(3)|lung(2)|stomach(1)	6						c.(4-6)GCC>GCT		calcium/calmodulin-dependent serine protein							99.0	68.0	78.0					X																	41782236		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41782236G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.6C>T	X.37:g.41782236G>A						CASK_uc004dfm.3_Silent_p.A2A|CASK_uc004dfn.3_Silent_p.A2A	p.A2A	NM_003688	NP_003679	O14936	CSKP_HUMAN			1	52	-			2					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.6C>T																																																																																					0.642	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
SSX9	280660	broad.mit.edu	37	X	48159131	48159131	+	RNA	SNP	G	G	A	rs376674349		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:48159131G>A	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						GTTTCCCATCGTTCTGTAAGC	0.468													N|||	4	0.0010596	0.0	0.0	3775	,	,		15147	0.004		0.0	False		,,,				2504	0.0					uc010nib.1																			0											c.(400-402)AAC>AAT		synovial sarcoma, X breakpoint 9		G		0,3835		0,0,1632,571	221.0	216.0	218.0			-1.1	0.0	X		218	1,6726		0,1,2427,1871	no	intergenic				0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095			48159131	1,10561	2203	4299	6502			0							g.chrX:48159131G>A	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159131G>A							p.N134N	NM_174962	NP_777622					6	489	-									Silent	SNP	ENST00000608568.1	37	c.402C>T																																																																																					0.468	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393	
FGD1	2245	broad.mit.edu	37	X	54497806	54497806	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:54497806G>T	ENST00000375135.3	-	2	1155	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	141	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGGTTTCAGTCGGGGGACC	0.607																																						uc004dtg.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(421-423)ACT>AAT		faciogenital dysplasia protein							54.0	55.0	55.0					X																	54497806		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497806G>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.422C>A	X.37:g.54497806G>T	ENSP00000364277:p.Thr141Asn					FGD1_uc011moi.1_5'Flank	p.T141N	NM_004463	NP_004454	P98174	FGD1_HUMAN			2	1156	-			141			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.422C>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036282	0.08148	.	.	ENSG00000102302	ENST00000375135	T	0.65178	-0.14	4.45	3.49	0.39957	.	0.119366	0.38326	N	0.001736	T	0.33731	0.0873	N	0.08118	0	0.09310	N	1	P	0.39480	0.675	B	0.31686	0.134	T	0.23976	-1.0173	10	0.44086	T	0.13	-15.3654	8.1453	0.31108	0.0:0.1652:0.664:0.1708	.	141	P98174	FGD1_HUMAN	N	141	ENSP00000364277:T141N	ENSP00000364277:T141N	T	-	2	0	FGD1	54514531	0.007000	0.16637	0.057000	0.19452	0.025000	0.11179	0.202000	0.17295	2.159000	0.67721	0.436000	0.28706	ACT		0.607	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
ATP2B3	492	broad.mit.edu	37	X	152807349	152807349	+	Missense_Mutation	SNP	C	C	T	rs200641356		TCGA-06-0210-02A-01D-2280-08	TCGA-06-0210-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b60392fb-43d9-4c9c-b91b-ded40492e61c	4e2a4226-999f-4cca-bf37-17d54b7f8a96	g.chrX:152807349C>T	ENST00000349466.2	+	4	955	c.629C>T	c.(628-630)gCg>gTg	p.A210V	ATP2B3_ENST00000263519.4_Missense_Mutation_p.A210V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A210V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.A210V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A210V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A210V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	210					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTGGCTGCGCTGGTGGTG	0.627													C|||	1	0.000264901	0.0	0.0	3775	,	,		10623	0.001		0.0	False		,,,				2504	0.0					uc004fht.1																			0				pancreas(1)	1						c.(628-630)GCG>GTG		plasma membrane calcium ATPase 3 isoform 3b							79.0	75.0	76.0					X																	152807349		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807349C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.629C>T	X.37:g.152807349C>T	ENSP00000343886:p.Ala210Val					ATP2B3_uc004fhs.1_Missense_Mutation_p.A210V	p.A210V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			3	755	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		210			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.629C>T	CCDS35440.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.90	3.249048	0.59103	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.79	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.411071	0.25291	N	0.031730	T	0.82019	0.4946	N	0.14661	0.345	0.27472	N	0.952846	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.004	T	0.75385	-0.3336	10	0.87932	D	0	0.0226	10.9202	0.47161	0.5924:0.4076:0.0:0.0	.	210;210	Q16720;Q16720-2	AT2B3_HUMAN;.	V	210	ENSP00000359205:A210V;ENSP00000343886:A210V;ENSP00000377425:A210V;ENSP00000352062:A210V;ENSP00000263519:A210V;ENSP00000359200:A210V	ENSP00000263519:A210V	A	+	2	0	ATP2B3	152460543	1.000000	0.71417	0.005000	0.12908	0.982000	0.71751	6.850000	0.75420	1.180000	0.42898	0.600000	0.82982	GCG		0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
