#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	6184051	6184051	+	Silent	SNP	G	G	C	rs377149511		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:6184051G>C	ENST00000262450.3	-	31	4755	c.4656C>G	c.(4654-4656)ccC>ccG	p.P1552P	CHD5_ENST00000378021.1_Silent_p.P409P	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)				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)		CAGGGCTGGCGGGCACTGGTG	0.677																																						uc001amb.1																			0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4654-4656)CCC>CCG		chromodomain helicase DNA binding protein 5							19.0	24.0	22.0					1																	6184051		2203	4299	6502	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6184051G>C	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.4656C>G	1.37:g.6184051G>C						CHD5_uc001alz.1_Silent_p.P409P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.P1552P	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)	31	4756	-	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)	1552					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4656C>G	CCDS57.1																																																																																				0.677	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
PEX14	5195	broad.mit.edu	37	1	10555343	10555343	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:10555343C>G	ENST00000356607.4	+	2	129	c.49C>G	c.(49-51)Cca>Gca	p.P17A	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	17					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTCTACTCCAGGAAGTGA	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001arn.2																			0				breast(1)	1						c.(49-51)CCA>GCA		peroxisomal biogenesis factor 14							151.0	142.0	145.0					1																	10555343		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10555343C>G	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.49C>G	1.37:g.10555343C>G	ENSP00000349016:p.Pro17Ala		OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665	PEX14_uc001arm.1_RNA|PEX14_uc009vmu.1_Missense_Mutation_p.P17A|PEX14_uc009vmv.2_5'UTR|PEX14_uc010oam.1_5'UTR|PEX14_uc010oan.1_Missense_Mutation_p.P17A|PEX14_uc001arl.2_RNA	p.P17A	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	2	70	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	17					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.49C>G	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417396	0.62622	.	.	ENSG00000142655	ENST00000356607	T	0.22743	1.94	5.05	5.05	0.67936	.	0.270254	0.29767	N	0.011254	T	0.30916	0.0780	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.03278	-1.1053	10	0.15066	T	0.55	.	15.5573	0.76208	0.0:1.0:0.0:0.0	.	17;17	O75381-2;O75381	.;PEX14_HUMAN	A	17	ENSP00000349016:P17A	ENSP00000349016:P17A	P	+	1	0	PEX14	10477930	0.996000	0.38824	0.967000	0.41034	0.990000	0.78478	2.876000	0.48498	2.332000	0.79248	0.655000	0.94253	CCA		0.428	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
UBR4	23352	broad.mit.edu	37	1	19412732	19412732	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:19412732G>A	ENST00000375254.3	-	101	14747	c.14720C>T	c.(14719-14721)gCc>gTc	p.A4907V	AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375217.2_Missense_Mutation_p.A4900V|UBR4_ENST00000543981.1_Missense_Mutation_p.A571V|UBR4_ENST00000429347.2_Missense_Mutation_p.A430V|UBR4_ENST00000375226.2_Missense_Mutation_p.A4883V|UBR4_ENST00000375267.2_Missense_Mutation_p.A4907V|UBR4_ENST00000375224.1_Missense_Mutation_p.A614V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4907					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCAGGGCGGCACTCTCCCA	0.612																																						uc001bbi.2																			0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(14719-14721)GCC>GTC		retinoblastoma-associated factor 600							65.0	62.0	63.0					1																	19412732		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19412732G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14720C>T	1.37:g.19412732G>A	ENSP00000364403:p.Ala4907Val					UBR4_uc010ocv.1_Missense_Mutation_p.A430V|UBR4_uc009vph.2_Missense_Mutation_p.A541V|UBR4_uc010ocw.1_Missense_Mutation_p.A571V|UBR4_uc001bbg.2_Missense_Mutation_p.A618V|UBR4_uc001bbh.2_Missense_Mutation_p.A616V	p.A4907V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	101	14724	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4907					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.14720C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762491	0.96906	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.996	D;D;D;D	0.74348	0.983;0.983;0.983;0.971	T	0.79205	-0.1899	10	0.87932	D	0	.	18.5215	0.90954	0.0:0.0:1.0:0.0	.	571;430;4907;4883	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	V	4907;4907;4900;4883;614;430;571	ENSP00000364403:A4907V;ENSP00000364416:A4907V;ENSP00000364365:A4900V;ENSP00000364374:A4883V;ENSP00000364372:A614V;ENSP00000394173:A430V;ENSP00000444070:A571V	ENSP00000364365:A4900V	A	-	2	0	UBR4	19285319	1.000000	0.71417	0.895000	0.35142	0.983000	0.72400	9.476000	0.97823	2.714000	0.92807	0.563000	0.77884	GCC		0.612	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
FUCA1	2517	broad.mit.edu	37	1	24180899	24180899	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:24180899C>T	ENST00000374479.3	-	5	927	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	307					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CATGTCACGACGATAGCCCCA	0.393																																						uc001bie.2																			0				breast(1)	1						c.(919-921)CGT>CAT		fucosidase, alpha-L-1, tissue precursor							152.0	149.0	150.0					1																	24180899		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24180899C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.920G>A	1.37:g.24180899C>T	ENSP00000363603:p.Arg307His					FUCA1_uc009vqt.1_RNA	p.R307H	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	5	965	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	307					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.920G>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225907	0.79576	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.56611	0.45	4.77	4.77	0.60923	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76170	-0.3057	10	0.87932	D	0	-15.3138	18.0106	0.89222	0.0:1.0:0.0:0.0	.	307	P04066	FUCO_HUMAN	H	307;96	ENSP00000363603:R307H	ENSP00000363599:R96H	R	-	2	0	FUCA1	24053486	1.000000	0.71417	0.675000	0.29917	0.546000	0.35178	7.278000	0.78587	2.481000	0.83766	0.637000	0.83480	CGT		0.393	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
PTPRF	5792	broad.mit.edu	37	1	44084401	44084401	+	Missense_Mutation	SNP	G	G	A	rs375234489		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:44084401G>A	ENST00000359947.4	+	26	4812	c.4472G>A	c.(4471-4473)cGc>cAc	p.R1491H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1482H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R850H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1482H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1491H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1491	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACACTGTGCGCACCTTCGCA	0.572																																						uc001cjr.2																			0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(4471-4473)CGC>CAC		protein tyrosine phosphatase, receptor type, F		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	137.0	116.0	123.0		4472,4445	5.6	1.0	1		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1491/1908,1482/1899	44084401	1,13005	2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084401G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4472G>A	1.37:g.44084401G>A	ENSP00000353030:p.Arg1491His					PTPRF_uc001cjs.2_Missense_Mutation_p.R1482H|PTPRF_uc001cju.2_Missense_Mutation_p.R880H|PTPRF_uc009vwt.2_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.2_Missense_Mutation_p.R962H|PTPRF_uc001cjw.2_Missense_Mutation_p.R717H	p.R1491H	NM_002840	NP_002831	P10586	PTPRF_HUMAN			26	4812	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1491			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4472G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.345192|5.345192	0.95807|0.95807	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34314	.|N	.|0.004072	T|T	0.75095|0.75095	0.3803|0.3803	H|H	0.97131|0.97131	3.945|3.945	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.987;0.999;1.0;0.997;1.0	T|T	0.83212|0.83212	-0.0073|-0.0073	5|10	.|0.87932	.|D	.|0	.|.	20.0957|20.0957	0.97842|0.97842	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1136;850;1068;1482;1491	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	1137|1491;1482;1491;1482;850;563	.|ENSP00000353030:R1491H;ENSP00000398822:R1482H;ENSP00000361491:R1491H;ENSP00000361490:R1482H;ENSP00000387885:R850H;ENSP00000361484:R563H	.|ENSP00000353030:R1491H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43856988|43856988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	9.807000|9.807000	0.99171|0.99171	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.572	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
MUTYH	4595	broad.mit.edu	37	1	45797967	45797967	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:45797967C>T	ENST00000372098.3	-	10	928	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MUTYH_ENST00000372104.1_Silent_p.Q240Q|MUTYH_ENST00000372110.3_Silent_p.Q255Q|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Silent_p.Q254Q|MUTYH_ENST00000528013.2_Silent_p.Q254Q|MUTYH_ENST00000354383.6_Silent_p.Q241Q|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Silent_p.Q251Q|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000448481.1_Silent_p.Q251Q|MUTYH_ENST00000450313.1_Silent_p.Q268Q|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Silent_p.Q240Q|MUTYH_ENST00000355498.2_Silent_p.Q240Q			Q9UIF7	MUTYH_HUMAN	mutY homolog	265					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGTCCACCAGCTGCTGGGCTA	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0						c.(793-795)CAG>CAA	BER_DNA_glycosylases	mutY homolog isoform 1							29.0	30.0	30.0					1																	45797967		2203	4300	6503	SO:0001819	synonymous_variant	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797967C>T	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.795G>A	1.37:g.45797967C>T						MUTYH_uc009vxn.2_Silent_p.Q90Q|MUTYH_uc001cnf.2_Silent_p.Q240Q|MUTYH_uc009vxo.2_Silent_p.Q240Q|MUTYH_uc001cng.2_Silent_p.Q251Q|MUTYH_uc001cnj.2_Silent_p.Q148Q|MUTYH_uc001cni.2_Silent_p.Q240Q|MUTYH_uc001cnh.2_Silent_p.Q241Q|MUTYH_uc001cno.2_Silent_p.Q148Q|MUTYH_uc001cnk.2_Silent_p.Q125Q|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.Q254Q|MUTYH_uc009vxp.2_Silent_p.Q268Q|MUTYH_uc001cnn.2_Silent_p.Q255Q	p.Q265Q	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			10	1011	-	Acute lymphoblastic leukemia(166;0.155)		265					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	c.795G>A	CCDS520.1																																																																																				0.597	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
DENND2C	163259	broad.mit.edu	37	1	115167981	115167981	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:115167981G>C	ENST00000393274.1	-	4	1250	c.625C>G	c.(625-627)Cct>Gct	p.P209A	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.P209A|DENND2C_ENST00000393277.1_Missense_Mutation_p.P209A	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	209					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGCAAAGGATTTATGGAA	0.378																																						uc001efd.1																			0				skin(3)	3						c.(625-627)CCT>GCT		DENN/MADD domain containing 2C							94.0	94.0	94.0					1																	115167981		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115167981G>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.625C>G	1.37:g.115167981G>C	ENSP00000376955:p.Pro209Ala					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	p.P209A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1327	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	209					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.625C>G	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043471	0.75732	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.62364	0.03;1.09;0.74	5.22	5.22	0.72569	.	0.198860	0.47093	D	0.000244	T	0.77294	0.4109	M	0.79011	2.435	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80457	-0.1374	10	0.87932	D	0	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	209;209	Q68D51;Q68D51-3	DEN2C_HUMAN;.	A	209	ENSP00000376957:P209A;ENSP00000376955:P209A;ENSP00000376958:P209A	ENSP00000358553:P209A	P	-	1	0	DENND2C	114969504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.744000	0.74854	2.451000	0.82905	0.585000	0.79938	CCT		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
NBPF10	100132406	broad.mit.edu	37	1	145302676	145302676	+	Missense_Mutation	SNP	G	G	T	rs200242621		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:145302676G>T	ENST00000369339.3	+	5	554	c.301G>T	c.(301-303)Gct>Tct	p.A101S	NBPF10_ENST00000342960.5_Missense_Mutation_p.A372S|NBPF10_ENST00000369338.1_Missense_Mutation_p.A101S|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	372						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGGTTCACGCTCAGGAACG	0.483																																						uc001end.3																			0					0						c.(1114-1116)GCT>TCT		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145302676G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.301G>T	1.37:g.145302676G>T	ENSP00000358345:p.Ala101Ser					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.A101S	p.A372S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1149	+	all_hematologic(923;0.032)		372					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1114G>T		.	.	.	.	.	.	.	.	.	.	.	0	-2.658305	0.00108	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09163	3.01;3.82	0.778	-1.56	0.08532	.	.	.	.	.	T	0.00524	0.0017	N	0.01417	-0.88	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	9	0.02654	T	1	.	3.5216	0.07744	0.2134:0.0:0.5413:0.2453	.	101	A8MQ30	.	S	297;101;101;372	ENSP00000358344:A101S;ENSP00000345684:A372S	ENSP00000345684:A372S	A	+	1	0	NBPF10	144014033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.216000	0.01221	-2.806000	0.00350	-2.574000	0.00170	GCT		0.483	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703	
HIST2H3D	653604	broad.mit.edu	37	1	149785226	149785226	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:149785226G>C	ENST00000331491.1	-	1	10	c.11C>G	c.(10-12)aCt>aGt	p.T4S	HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	4					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGTCTGCTTAGTACGGGCCAT	0.567																																						uc010pbl.1																			0					0						c.(10-12)ACT>AGT		histone cluster 2, H3d							31.0	32.0	31.0					1																	149785226		1564	3564	5128	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785226G>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.11C>G	1.37:g.149785226G>C	ENSP00000333277:p.Thr4Ser					HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.T4S	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	11	-			4					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.11C>G	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559879	0.45590	.	.	ENSG00000183598	ENST00000331491	T	0.46451	0.87	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000038	T	0.51058	0.1652	.	.	.	0.51767	D	0.999934	.	.	.	.	.	.	T	0.57825	-0.7744	7	0.87932	D	0	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	S	4	ENSP00000333277:T4S	ENSP00000333277:T4S	T	-	2	0	HIST2H3D	148051850	1.000000	0.71417	0.519000	0.27824	0.166000	0.22503	8.930000	0.92872	2.302000	0.77476	0.436000	0.28706	ACT		0.567	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375	
FLG	2312	broad.mit.edu	37	1	152285914	152285914	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:152285914C>A	ENST00000368799.1	-	3	1483	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	483	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGGTCCGTCCATGGGCAGA	0.607									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1447-1449)GGA>GTA		filaggrin							226.0	215.0	219.0					1																	152285914		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285914C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1448G>T	1.37:g.152285914C>A	ENSP00000357789:p.Gly483Val					uc001ezv.2_5'Flank	p.G483V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		483			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1448G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.46	1.356606	0.24598	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.07688	3.17	3.82	-2.2	0.06994	.	.	.	.	.	T	0.11024	0.0269	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04915	-1.0918	9	0.48119	T	0.1	.	4.2208	0.10556	0.0:0.3639:0.3252:0.3109	.	483	P20930	FILA_HUMAN	V	483;15	ENSP00000357789:G483V	ENSP00000357789:G483V	G	-	2	0	FLG	150552538	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.181000	0.00568	-0.540000	0.06265	0.505000	0.49811	GGA		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
UBAP2L	9898	broad.mit.edu	37	1	154242707	154242707	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:154242707C>T	ENST00000361546.2	+	26	3242	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	HAX1_ENST00000532105.1_5'Flank|HAX1_ENST00000328703.7_5'Flank|UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S1067F|HAX1_ENST00000483970.2_5'Flank|HAX1_ENST00000457918.2_5'Flank			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1067					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGACCAGCTCCATCCCGCAG	0.562																																						uc001fep.3																			0				ovary(1)|central_nervous_system(1)	2						c.(3199-3201)TCC>TTC		ubiquitin associated protein 2-like isoform a							98.0	93.0	95.0					1																	154242707		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154242707C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3200C>T	1.37:g.154242707C>T	ENSP00000355343:p.Ser1067Phe					UBAP2L_uc010pel.1_Intron|UBAP2L_uc001feq.2_Intron|UBAP2L_uc001fer.2_Missense_Mutation_p.S280F|HAX1_uc001fet.2_5'Flank|HAX1_uc001fes.2_5'Flank|HAX1_uc010peo.1_5'Flank|HAX1_uc009wou.2_5'Flank|HAX1_uc009wov.2_5'Flank	p.S1067F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		27	3367	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		1067					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.3200C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768690	0.69878	.	.	ENSG00000143569	ENST00000428931;ENST00000456955;ENST00000433006;ENST00000361546	T;T	0.16324	2.35;2.35	5.99	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.65815	0.99;0.995	D;D	0.74348	0.962;0.983	T	0.00514	-1.1695	10	0.87932	D	0	-5.8365	13.3923	0.60830	0.0:0.9241:0.0:0.0759	.	580;1067	C9JD99;Q14157	.;UBP2L_HUMAN	F	1067;580;580;1067	ENSP00000389445:S1067F;ENSP00000355343:S1067F	ENSP00000355343:S1067F	S	+	2	0	UBAP2L	152509331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.730000	0.68546	2.843000	0.97960	0.655000	0.94253	TCC		0.562	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
SMG7	9887	broad.mit.edu	37	1	183486872	183486872	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:183486872A>G	ENST00000347615.2	+	4	348	c.229A>G	c.(229-231)Aag>Gag	p.K77E	SMG7_ENST00000507469.1_Missense_Mutation_p.K77E|SMG7_ENST00000515829.2_Missense_Mutation_p.K77E|SMG7_ENST00000456731.2_Missense_Mutation_p.K35E|SMG7_ENST00000508461.1_Missense_Mutation_p.K35E|SMG7_ENST00000367537.3_Missense_Mutation_p.K106E	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	77					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGCCAGGCAAAGAATCGAGC	0.443																																						uc001gqg.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(229-231)AAG>GAG		SMG-7 homolog isoform 1							182.0	168.0	172.0					1																	183486872		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183486872A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.229A>G	1.37:g.183486872A>G	ENSP00000340766:p.Lys77Glu					SMG7_uc010pob.1_Missense_Mutation_p.K106E|SMG7_uc001gqf.2_Missense_Mutation_p.K77E|SMG7_uc001gqh.2_Missense_Mutation_p.K77E|SMG7_uc001gqi.2_Missense_Mutation_p.K35E|SMG7_uc010poc.1_Missense_Mutation_p.K35E	p.K77E	NM_173156	NP_775179	Q92540	SMG7_HUMAN			4	351	+			77					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.229A>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710648	0.89112	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.28	5.28	0.74379	Telomerase activating protein Est1 (1);	0.102275	0.64402	D	0.000003	T	0.40956	0.1138	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999	D;D;D;D;D;D	0.74674	0.984;0.974;0.974;0.941;0.977;0.974	T	0.24154	-1.0168	10	0.66056	D	0.02	-14.5758	15.222	0.73320	1.0:0.0:0.0:0.0	.	35;106;35;77;77;77	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	E	35;106;35;35;77;77;77	ENSP00000407629:K35E;ENSP00000356507:K106E;ENSP00000426915:K35E;ENSP00000388390:K35E;ENSP00000340766:K77E;ENSP00000425133:K77E;ENSP00000421358:K77E	ENSP00000340766:K77E	K	+	1	0	SMG7	181753495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.770000	0.91746	1.981000	0.57761	0.533000	0.62120	AAG		0.443	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
FAM196A	642938	broad.mit.edu	37	10	128974485	128974485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr10:128974485G>A	ENST00000522781.1	-	4	730	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Q59*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	59										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTCCCTCTGCTCATTCTGT	0.587																																						uc001lju.1																			0				ovary(2)	2						c.(175-177)CAG>TAG		hypothetical protein LOC642938							117.0	114.0	115.0					10																	128974485		2203	4300	6503	SO:0001587	stop_gained	642938							g.chr10:128974485G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.175C>T	10.37:g.128974485G>A	ENSP00000429763:p.Gln59*					DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	p.Q59*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	216	-			59					B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	c.175C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	43	10.040015	0.99323	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	5.32	5.32	0.75619	.	0.058451	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.3815	0.94540	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000428730:Q59X	Q	-	1	0	FAM196A	128864475	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.476000	0.97823	2.655000	0.90218	0.462000	0.41574	CAG		0.587	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762	
LUZP2	338645	broad.mit.edu	37	11	25100153	25100153	+	Silent	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:25100153A>G	ENST00000336930.6	+	12	1056	c.990A>G	c.(988-990)aaA>aaG	p.K330K	LUZP2_ENST00000533227.1_Silent_p.K244K			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	330						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCCCAGAAAAACCATTGACCA	0.348																																						uc001mqs.2																			0				ovary(1)|skin(1)	2						c.(988-990)AAA>AAG		leucine zipper protein 2 precursor							85.0	90.0	88.0					11																	25100153		2203	4300	6503	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:25100153A>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.990A>G	11.37:g.25100153A>G						LUZP2_uc009yif.2_Silent_p.K244K|LUZP2_uc009yig.2_Silent_p.K288K	p.K330K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			12	1224	+			330					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.990A>G	CCDS31446.1																																																																																				0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
TRIM51	84767	broad.mit.edu	37	11	55655555	55655555	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:55655555G>T	ENST00000449290.2	+	4	647	c.555G>T	c.(553-555)aaG>aaT	p.K185N	TRIM51_ENST00000244891.3_Missense_Mutation_p.K42N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	185						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AATATCAGAAGATGCCTGCAT	0.398																																						uc010rip.1																			0					0						c.(553-555)AAG>AAT		SPRY domain containing 5							31.0	31.0	31.0					11																	55655555		2200	4290	6490	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655555G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.555G>T	11.37:g.55655555G>T	ENSP00000395086:p.Lys185Asn					SPRYD5_uc010riq.1_Missense_Mutation_p.K42N	p.K185N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	647	+		all_epithelial(135;0.226)	185					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.555G>T		.	.	.	.	.	.	.	.	.	.	.	3.640	-0.073683	0.07184	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	.	.	.	.	.	.	.	.	T	0.20414	0.0491	M	0.92367	3.3	0.09310	N	1	P	0.39157	0.662	B	0.42163	0.378	T	0.10636	-1.0621	7	0.59425	D	0.04	.	.	.	.	.	185	Q9BSJ1	SPRY5_HUMAN	N	185;42	ENSP00000395086:K185N;ENSP00000244891:K42N	ENSP00000244891:K42N	K	+	3	2	SPRYD5	55412131	0.008000	0.16893	0.010000	0.14722	0.595000	0.36748	-0.133000	0.10451	-0.673000	0.05259	0.152000	0.16155	AAG		0.398	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
ARHGAP20	57569	broad.mit.edu	37	11	110495025	110495025	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:110495025T>C	ENST00000260283.4	-	5	648	c.364A>G	c.(364-366)Aac>Gac	p.N122D	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.N96D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.N99D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.N86D|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.N96D|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.N86D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	122	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		atCTTAAAGTTATTGTTATAT	0.333																																						uc001pkz.1																			0				ovary(3)|kidney(2)	5						c.(364-366)AAC>GAC		Rho GTPase activating protein 20							18.0	20.0	19.0					11																	110495025		2192	4290	6482	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110495025T>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.364A>G	11.37:g.110495025T>C	ENSP00000260283:p.Asn122Asp					ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	p.N122D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	5	649	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	122			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.364A>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.035967	0.19590	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	6.02	3.56	0.40772	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.422405	0.29233	N	0.012748	T	0.20861	0.0502	L	0.34521	1.04	0.26043	N	0.981584	B;B	0.30146	0.177;0.27	B;B	0.26693	0.033;0.072	T	0.16512	-1.0400	10	0.62326	D	0.03	.	7.5521	0.27804	0.1406:0.0:0.1467:0.7127	.	122;99	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	122;96;99;86;96;86	ENSP00000260283:N122D;ENSP00000349660:N96D;ENSP00000432076:N99D;ENSP00000436319:N86D;ENSP00000436522:N96D;ENSP00000431399:N86D	ENSP00000260283:N122D	N	-	1	0	ARHGAP20	110000235	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	1.369000	0.34227	1.081000	0.41110	-0.333000	0.08304	AAC		0.333	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
TMPRSS13	84000	broad.mit.edu	37	11	117789400	117789400	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:117789400C>T	ENST00000430170.2	-	2	262	c.175G>A	c.(175-177)Gca>Aca	p.A59T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A59T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A59T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A59T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A59T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	59	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCCTGGGCTGGA	0.697																																						uc001prs.1																			0				pancreas(1)	1						c.(175-177)GCA>ACA		transmembrane protease, serine 13							44.0	50.0	48.0					11																	117789400		1886	4088	5974	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789400C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.175G>A	11.37:g.117789400C>T	ENSP00000387702:p.Ala59Thr					TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A59T	p.A59T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	268	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	59			4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.175G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856815	0.32791	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88586	-2.37;-2.39;-2.38;-2.4;-2.33	1.47	-2.93	0.05598	.	1.355420	0.05466	N	0.552155	T	0.76955	0.4060	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.13407	0.009;0.003	T	0.55392	-0.8148	10	0.40728	T	0.16	.	0.6006	0.00743	0.2248:0.3474:0.1578:0.27	.	54;59	Q9BYE2-4;E9PRA0	.;.	T	59	ENSP00000435813:A59T;ENSP00000434279:A59T;ENSP00000387702:A59T;ENSP00000394114:A59T;ENSP00000436502:A59T	ENSP00000337113:A59T	A	-	1	0	TMPRSS13	117294610	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.010000	0.00314	-2.132000	0.00814	0.205000	0.17691	GCA		0.697	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
PHLDB1	23187	broad.mit.edu	37	11	118530175	118530175	+	IGR	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:118530175T>C	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Missense_Mutation_p.T323A|TREH_ENST00000525958.1_Missense_Mutation_p.T415A|TREH_ENST00000264029.4_Missense_Mutation_p.T446A|TREH_ENST00000397925.1_Missense_Mutation_p.T415A|TREH_ENST00000529101.1_Missense_Mutation_p.T446A	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TACTGGTAAGTCAGGATCCGG	0.617											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pty.1																			0				pancreas(1)	1						c.(1336-1338)ACT>GCT		trehalase precursor							36.0	37.0	37.0					11																	118530175		1920	4127	6047	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530175T>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530175T>C			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	p.T446A	NM_007180	NP_009111	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	12	1381	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	446					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1336A>G	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	T	7.611	0.674906	0.14841	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.82	3.48	0.39840	Six-hairpin glycosidase-like (1);	0.712955	0.14649	N	0.306707	T	0.19725	0.0474	.	.	.	0.26047	N	0.98154	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.14023	0.007;0.01;0.006	T	0.30119	-0.9989	9	0.08837	T	0.75	-12.2388	5.0449	0.14479	0.3898:0.0764:0.0:0.5338	.	415;323;446	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	A	446;323;446;323;415;415	ENSP00000435095:T446A;ENSP00000432640:T323A;ENSP00000264029:T446A;ENSP00000432853:T415A;ENSP00000381020:T415A	ENSP00000264029:T446A	T	-	1	0	TREH	118035385	0.824000	0.29247	0.976000	0.42696	0.975000	0.68041	0.796000	0.26986	0.453000	0.26858	0.533000	0.62120	ACT		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
CCND2	894	broad.mit.edu	37	12	4398029	4398029	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:4398029C>G	ENST00000261254.3	+	4	862	c.593C>G	c.(592-594)cCa>cGa	p.P198R		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	198					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCATGTACCCACCGTCGATG	0.547			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		0				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(592-594)CCA>CGA		cyclin D2							186.0	166.0	173.0					12																	4398029		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398029C>G	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.593C>G	12.37:g.4398029C>G	ENSP00000261254:p.Pro198Arg						p.P198R	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	898	+			198					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.593C>G	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977531	0.92982	.	.	ENSG00000118971	ENST00000261254	T	0.22134	1.97	5.4	5.4	0.78164	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.49661	-0.8916	10	0.40728	T	0.16	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	198	P30279	CCND2_HUMAN	R	198	ENSP00000261254:P198R	ENSP00000261254:P198R	P	+	2	0	CCND2	4268290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.698000	0.92095	0.655000	0.94253	CCA		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759	
ACSM4	341392	broad.mit.edu	37	12	7470689	7470689	+	Missense_Mutation	SNP	G	G	A	rs79217312		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:7470689G>A	ENST00000399422.4	+	5	880	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	278					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.A278T(2)		endometrium(6)|kidney(1)|lung(14)	21						GGTCAAGGCCGCCATTGGCAG	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qsx.1																			2	Substitution - Missense(2)		endometrium(2)		0						c.(832-834)GCC>ACC		acyl-CoA synthetase medium-chain family member 4							117.0	121.0	120.0					12																	7470689		2023	4165	6188	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7470689G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.832G>A	12.37:g.7470689G>A	ENSP00000382349:p.Ala278Thr						p.A278T	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			5	832	+			278					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.832G>A	CCDS44825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	15.24|15.24	2.775418|2.775418	0.49786|0.49786	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	T|.	0.40756|.	1.02|.	4.07|4.07	4.07|4.07	0.47477|0.47477	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.38778|.	U|.	0.001568|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39467|0.39467	1.215|1.215	0.39104|0.39104	D|D	0.961339|0.961339	P|.	0.47484|.	0.896|.	P|.	0.46940|.	0.532|.	T|T	0.57682|0.57682	-0.7769|-0.7769	10|5	0.45353|.	T|.	0.12|.	-0.7081|-0.7081	14.1486|14.1486	0.65367|0.65367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278|.	P0C7M7|.	ACSM4_HUMAN|.	T|H	278|23	ENSP00000382349:A278T|.	ENSP00000382349:A278T|.	A|R	+|+	1|2	0|0	ACSM4|ACSM4	7361956|7361956	0.998000|0.998000	0.40836|0.40836	0.988000|0.988000	0.46212|0.46212	0.129000|0.129000	0.20672|0.20672	3.137000|3.137000	0.50562|0.50562	2.260000|2.260000	0.74910|0.74910	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.458	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
MRPS35	60488	broad.mit.edu	37	12	27908375	27908375	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:27908375G>A	ENST00000081029.3	+	8	1035	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ACTATTAAATGTGACATGAAT	0.254																																						uc001rih.2																			0					0						c.(964-966)GTG>ATG		mitochondrial ribosomal protein S35 precursor							57.0	69.0	65.0					12																	27908375		2154	4266	6420	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908375G>A	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.964G>A	12.37:g.27908375G>A	ENSP00000081029:p.Val322Met					MRPS35_uc001rii.2_3'UTR	p.V322M	NM_021821	NP_068593	P82673	RT35_HUMAN			8	1012	+	Lung SC(9;0.0873)		322					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.964G>A	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245013	0.22796	.	.	ENSG00000061794	ENST00000081029;ENST00000321446	T	0.48522	0.81	6.07	-6.81	0.01704	.	0.455048	0.23684	N	0.045599	T	0.19846	0.0477	N	0.14661	0.345	0.40854	D	0.983778	B	0.15141	0.012	B	0.08055	0.003	T	0.01371	-1.1372	10	0.72032	D	0.01	-12.4112	3.1094	0.06352	0.1027:0.2655:0.3854:0.2464	.	322	P82673	RT35_HUMAN	M	322;286	ENSP00000081029:V322M	ENSP00000081029:V322M	V	+	1	0	MRPS35	27799642	0.002000	0.14202	0.001000	0.08648	0.569000	0.35902	-1.327000	0.02682	-1.556000	0.01695	-2.092000	0.00371	GTG		0.254	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821	
GLI1	2735	broad.mit.edu	37	12	57864118	57864118	+	Missense_Mutation	SNP	G	G	A	rs200306754	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:57864118G>A	ENST00000228682.2	+	12	1686	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	GLI1_ENST00000546141.1_Missense_Mutation_p.R491H|GLI1_ENST00000543426.1_Missense_Mutation_p.R404H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	532					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTCCCGCCGCGTGGGCCCC	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		18029	0.003		0.0	False		,,,				2504	0.0				Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1594-1596)CGC>CAC		GLI family zinc finger 1 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	91.0	90.0		1211,1472,1595	4.0	1.0	12		90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	GLI1	NM_001160045.1,NM_001167609.1,NM_005269.2	29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	404/979,491/1066,532/1107	57864118	2,13004	2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864118G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1595G>A	12.37:g.57864118G>A	ENSP00000228682:p.Arg532His					GLI1_uc009zpq.2_Missense_Mutation_p.R404H	p.R532H	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1673	+			532					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1595G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	8.164	0.790145	0.16258	2.27E-4	1.16E-4	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.64;2.55;2.64;2.64	3.95	3.95	0.45737	.	0.142264	0.33161	N	0.005201	T	0.10723	0.0262	L	0.39898	1.24	0.32281	N	0.567528	P	0.48911	0.917	B	0.40329	0.326	T	0.07501	-1.0769	10	0.27082	T	0.32	.	10.0165	0.42018	0.0993:0.0:0.9007:0.0	.	532	P08151	GLI1_HUMAN	H	404;532;491;491	ENSP00000437607:R404H;ENSP00000228682:R532H;ENSP00000441006:R491H;ENSP00000434408:R491H	ENSP00000228682:R532H	R	+	2	0	GLI1	56150385	0.181000	0.23161	0.994000	0.49952	0.810000	0.45777	2.826000	0.48104	2.483000	0.83821	0.561000	0.74099	CGC		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
SLC6A15	55117	broad.mit.edu	37	12	85270346	85270346	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:85270346A>T	ENST00000266682.5	-	6	1338	c.797T>A	c.(796-798)aTt>aAt	p.I266N	SLC6A15_ENST00000552192.1_Missense_Mutation_p.I159N|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.I266T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGGAAGCAAATAAGTACCAC	0.303																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(796-798)ATT>AAT		solute carrier family 6, member 15 isoform 1							82.0	83.0	83.0					12																	85270346		2203	4296	6499	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270346A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.797T>A	12.37:g.85270346A>T	ENSP00000266682:p.Ile266Asn					SLC6A15_uc010sul.1_Missense_Mutation_p.I159N	p.I266N	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			6	1290	-			266			Helical; Name=5; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.797T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474872	0.26511	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	.	0.381475	0.30791	N	0.008864	D	0.83658	0.5302	M	0.92459	3.31	0.80722	D	1	B	0.29552	0.248	B	0.36244	0.22	D	0.84785	0.0775	10	0.87932	D	0	.	10.3834	0.44125	0.927:0.0:0.073:0.0	.	266	Q9H2J7	S6A15_HUMAN	N	266;159	ENSP00000266682:I266N;ENSP00000450145:I159N	ENSP00000266682:I266N	I	-	2	0	SLC6A15	83794477	0.907000	0.30839	0.294000	0.24946	0.050000	0.14768	7.166000	0.77553	2.189000	0.69895	0.459000	0.35465	ATT		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
KNTC1	9735	broad.mit.edu	37	12	123014673	123014673	+	Silent	SNP	T	T	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:123014673T>G	ENST00000333479.7	+	2	240	c.63T>G	c.(61-63)ggT>ggG	p.G21G	KNTC1_ENST00000450485.2_Silent_p.G21G	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	21					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGAGTGTCGGTTCAAGAAAAG	0.403																																						uc001ucv.2																			0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(61-63)GGT>GGG		Rough Deal homolog, centromere/kinetochore							119.0	124.0	122.0					12																	123014673		1869	4112	5981	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123014673T>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.63T>G	12.37:g.123014673T>G						KNTC1_uc010taf.1_Silent_p.G21G	p.G21G	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	2	226	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		21					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.63T>G	CCDS45002.1																																																																																				0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
ATP12A	479	broad.mit.edu	37	13	25263441	25263441	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr13:25263441G>A	ENST00000381946.3	+	5	641	c.474G>A	c.(472-474)acG>acA	p.T158T	ATP12A_ENST00000218548.6_Silent_p.T158T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	158					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCATTTTAACGGGGATCTTTG	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(472-474)ACG>ACA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						224.0	211.0	216.0					13																	25263441		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25263441G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.474G>A	13.37:g.25263441G>A						ATP12A_uc010aaa.2_Silent_p.T158T	p.T158T	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	5	661	+		Lung SC(185;0.0225)|Breast(139;0.077)	158			Helical; (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.474G>A	CCDS31948.1																																																																																				0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						uc001uzq.2																			0				pancreas(1)|skin(1)	2						c.(250-252)GATdel		hypothetical protein LOC55425				311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	55425							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	p.D88del	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	353_355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	
TTC5	91875	broad.mit.edu	37	14	20767565	20767565	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:20767565G>A	ENST00000258821.3	-	4	495	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	147					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGCAGCTGACGAAGCACCATT	0.493																																						uc001vwt.2																			0				ovary(1)	1						c.(439-441)CGT>TGT		tetratricopeptide repeat domain 5							146.0	120.0	128.0					14																	20767565		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20767565G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.439C>T	14.37:g.20767565G>A	ENSP00000258821:p.Arg147Cys					TTC5_uc001vwu.2_Missense_Mutation_p.R4C	p.R147C	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	4	496	-	all_cancers(95;0.00092)		147					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.439C>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.15|19.15	3.772700|3.772700	0.69992|0.69992	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.43294	.|0.95	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69033	.|0.3066	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.74500	.|-0.3645	.|10	.|0.87932	.|D	.|0	.|.	17.3489|17.3489	0.87317|0.87317	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|147	.|Q8N0Z6	.|TTC5_HUMAN	.|C	-1|147	.|ENSP00000258821:R147C	.|ENSP00000258821:R147C	.|R	-|-	.|1	.|0	TTC5|TTC5	19837405|19837405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.513000|4.513000	0.60476|0.60476	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	.|CGT		0.493	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	
ISM2	145501	broad.mit.edu	37	14	77948978	77948978	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:77948978G>A	ENST00000342219.4	-	4	716	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ISM2_ENST00000412904.1_Silent_p.A139A|ISM2_ENST00000393684.3_Silent_p.A132A|ISM2_ENST00000429906.1_Silent_p.A139A|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	220						extracellular region (GO:0005576)		p.A220A(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCGACACCTCGGCCTGGGGGT	0.622																																						uc001xtz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(658-660)GCC>GCT		isthmin 2 homolog isoform 1							58.0	67.0	64.0					14																	77948978		2203	4298	6501	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948978G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.660C>T	14.37:g.77948978G>A						ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Silent_p.A132A|ISM2_uc010tvl.1_Silent_p.A139A	p.A220A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			4	734	-			220					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.660C>T	CCDS9864.1																																																																																				0.622	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																						uc010axw.2																			0					0						c.(346-348)GCG>GAG		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709152G>T			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T						GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|uc010tzw.1_5'Flank	p.A116E	NM_001012423	NP_001012423					11	1245	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.347C>A		.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407	
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:54542603G>A	ENST00000260323.11	+	7	3409	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	UNC13C_ENST00000545554.1_Missense_Mutation_p.E1137K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1135K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1137					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507																																						uc002ack.2																			0				ovary(5)|pancreas(2)	7						c.(3409-3411)GAA>AAA		unc-13 homolog C							81.0	83.0	83.0					15																	54542603		2175	4283	6458	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542603G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3409G>A	15.37:g.54542603G>A	ENSP00000260323:p.Glu1137Lys						p.E1137K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	6	3409	+			1137			Phorbol-ester/DAG-type.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3409G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455302	0.84209	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92099	-2.97;-2.97;-2.97	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	N	0.12663	0.25	0.58432	D	0.999999	B	0.27264	0.173	B	0.23018	0.043	D	0.83537	0.0094	10	0.87932	D	0	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	1137	Q8NB66	UN13C_HUMAN	K	1137;1137;1135	ENSP00000260323:E1137K;ENSP00000438156:E1137K;ENSP00000442569:E1135K	ENSP00000260323:E1137K	E	+	1	0	UNC13C	52329895	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	9.856000	0.99531	2.626000	0.88956	0.650000	0.86243	GAA		0.507	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
IGDCC3	9543	broad.mit.edu	37	15	65667680	65667680	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:65667680G>A	ENST00000327987.4	-	2	415	c.164C>T	c.(163-165)cCc>cTc	p.P55L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	55	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGCTGCCCGGGGACGGCAAC	0.582																																						uc002aos.2																			0				ovary(3)	3						c.(163-165)CCC>CTC		putative neuronal cell adhesion molecule							39.0	32.0	34.0					15																	65667680		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667680G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.164C>T	15.37:g.65667680G>A	ENSP00000332773:p.Pro55Leu						p.P55L	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			2	416	-			55			Extracellular (Potential).|Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.164C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399611	0.11696	.	.	ENSG00000174498	ENST00000327987	T	0.37752	1.18	5.63	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.390538	0.24980	N	0.034070	T	0.17619	0.0423	N	0.04994	-0.135	0.49130	D	0.99975	B	0.14012	0.009	B	0.14023	0.01	T	0.03993	-1.0986	10	0.49607	T	0.09	-2.3061	7.6628	0.28413	0.1453:0.0:0.6934:0.1612	.	55	Q8IVU1	IGDC3_HUMAN	L	55	ENSP00000332773:P55L	ENSP00000332773:P55L	P	-	2	0	IGDCC3	63454733	0.974000	0.33945	0.022000	0.16811	0.003000	0.03518	1.732000	0.38146	0.718000	0.32166	0.655000	0.94253	CCC		0.582	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						uc010bky.2																			0					0						c.(118-120)CTA>CCA		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78211648A>G																													15.37:g.78211648A>G							p.L40P	NR_027024						11	883	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.119T>C																																																																																					0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																						uc010uny.1																			4	Substitution - Missense(4)		kidney(4)		0						c.(415-417)GAG>CAG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001583	missense	647042							g.chr15:83014132C>G																												ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln					GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank	p.E139Q	NM_198181	NP_937824	A6NI86	GG6LA_HUMAN			6	513	-			151						Missense_Mutation	SNP	ENST00000557886.1	37	c.415G>C																																																																																					0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
GRIN2A	2903	broad.mit.edu	37	16	9857171	9857171	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:9857171C>T	ENST00000396573.2	-	14	4539	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	GRIN2A_ENST00000330684.3_Silent_p.S1410S|GRIN2A_ENST00000396575.2_Silent_p.S1410S|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1410					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGAACAGTACGATGCCGTTG	0.502																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4228-4230)TCG>TCA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						104.0	90.0	94.0					16																	9857171		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857171C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4230G>A	16.37:g.9857171C>T						GRIN2A_uc010uym.1_Silent_p.S1410S|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.S1410S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4778	-			1410			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.4230G>A	CCDS10539.1																																																																																				0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
HYDIN	54768	broad.mit.edu	37	16	70917889	70917889	+	Missense_Mutation	SNP	C	C	T	rs185616885		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:70917889C>T	ENST00000393567.2	-	59	10063	c.9913G>A	c.(9913-9915)Ggc>Agc	p.G3305S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3305					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGTCTCGGCCGGAGATATCG	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21775	0.0		0.0	False		,,,				2504	0.0					uc002ezr.2																			0				ovary(1)|skin(1)	2						c.(9910-9912)GGC>AGC		hydrocephalus inducing isoform a		C	SER/GLY	0,3946		0,0,1973	49.0	54.0	52.0		9910	5.0	0.9	16		52	1,8349		0,1,4174	no	missense	HYDIN	NM_032821.2	56	0,1,6147	TT,TC,CC		0.012,0.0,0.0081	benign	3304/5121	70917889	1,12295	1973	4175	6148	SO:0001583	missense	54768							g.chr16:70917889C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9913G>A	16.37:g.70917889C>T	ENSP00000377197:p.Gly3305Ser						p.G3304S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			59	10038	-		Ovarian(137;0.0654)	3305					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9910G>A	CCDS59269.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.05	2.717764	0.48622	0.0	1.2E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	5.01	5.01	0.66863	.	0.221517	0.20975	U	0.082314	T	0.01061	0.0035	L	0.27053	0.805	0.80722	D	1	P	0.50617	0.937	B	0.37198	0.243	T	0.76940	-0.2773	10	0.56958	D	0.05	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	3304	F8WD23	.	S	3305;3304	ENSP00000377197:G3305S	ENSP00000313052:G3304S	G	-	1	0	HYDIN	69475390	1.000000	0.71417	0.942000	0.38095	0.006000	0.05464	7.022000	0.76431	2.325000	0.78763	0.511000	0.50034	GGC		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
EIF4A1	1973	broad.mit.edu	37	17	7480924	7480924	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:7480924C>A	ENST00000293831.8	+	8	822	c.806C>A	c.(805-807)aCc>aAc	p.T269N	SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|SNORA48_ENST00000386847.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_Missense_Mutation_p.T269N|EIF4A1_ENST00000577269.1_Missense_Mutation_p.T269N	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTGTATGAAACCCTGACCATC	0.537																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			0				ovary(1)	1						c.(805-807)ACC>AAC		eukaryotic translation initiation factor 4A							107.0	96.0	100.0					17																	7480924		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480924C>A	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.806C>A	17.37:g.7480924C>A	ENSP00000293831:p.Thr269Asn					EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghq.1_Missense_Mutation_p.T269N|EIF4A1_uc002ghp.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.T269N	NM_001416	NP_001407	P60842	IF4A1_HUMAN			16	2131	+			269			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.806C>A	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177916	0.38413	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04654	3.58	5.35	5.35	0.76521	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.12182	0.205	0.80722	D	1	D;D;B	0.76494	0.999;0.995;0.021	D;D;B	0.72625	0.978;0.963;0.021	T	0.35301	-0.9794	10	0.72032	D	0.01	-21.0299	16.5647	0.84576	0.0:1.0:0.0:0.0	.	269;269;269	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	N	269;92	ENSP00000293831:T269N	ENSP00000293831:T269N	T	+	2	0	EIF4A1	7421648	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.452000	0.80683	2.515000	0.84797	0.561000	0.74099	ACC		0.537	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416	
PIK3R6	146850	broad.mit.edu	37	17	8741187	8741187	+	Splice_Site	SNP	G	G	A	rs368109046		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:8741187G>A	ENST00000311434.9	-	5	430	c.191C>T	c.(190-192)gCg>gTg	p.A64V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTGGCTTTCCGCCTGGAAAAC	0.587																																						uc002glq.1																			0					0						c.(190-192)GCG>GTG		phosphoinositide-3-kinase, regulatory subunit 6							110.0	114.0	113.0					17																	8741187		2099	4217	6316	SO:0001630	splice_region_variant	146850				platelet activation	cytosol		g.chr17:8741187G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.190-1C>T	17.37:g.8741187G>A						PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.A64V	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			5	431	-			64					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.191C>T																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	Missense_Mutation
MYH8	4626	broad.mit.edu	37	17	10316043	10316043	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:10316043C>T	ENST00000403437.2	-	13	1244	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	384	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCTTGTCAGCGACTGCAGAG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(1150-1152)GCT>ACT		myosin, heavy chain 8, skeletal muscle,							186.0	173.0	177.0					17																	10316043		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10316043C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1150G>A	17.37:g.10316043C>T	ENSP00000384330:p.Ala384Thr					uc002gml.1_Intron	p.A384T	NM_002472	NP_002463	P13535	MYH8_HUMAN			13	1245	-			384			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1150G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079474	0.94050	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88201	-2.35	4.86	4.86	0.63082	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000883	D	0.94650	0.8275	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95148	0.8270	10	0.72032	D	0.01	.	18.1925	0.89812	0.0:1.0:0.0:0.0	.	384	P13535	MYH8_HUMAN	T	384	ENSP00000384330:A384T	ENSP00000252173:A384T	A	-	1	0	MYH8	10256768	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.607000	0.82883	2.541000	0.85698	0.650000	0.86243	GCT		0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
CPD	1362	broad.mit.edu	37	17	28772878	28772881	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:28772878_28772881delTTAA	ENST00000225719.4	+	12	2789_2792	c.2713_2716delTTAA	c.(2713-2718)ttaattfs	p.LI905fs	CPD_ENST00000543464.2_Frame_Shift_Del_p.LI658fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	905	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTTTGAAACTTTAATTAAAGACCT	0.417																																						uc002hfb.1																			0				liver(1)|skin(1)	2						c.(2713-2718)TTAATTfs		carboxypeptidase D precursor																																				SO:0001589	frameshift_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28772878_28772881delTTAA	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2713_2716delTTAA	17.37:g.28772882_28772885delTTAA	ENSP00000225719:p.Leu905fs					CPD_uc010wbo.1_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.1_RNA	p.L905fs	NM_001304	NP_001295	O75976	CBPD_HUMAN			12	2728_2731	+			905_906			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Del	DEL	ENST00000225719.4	37	c.2713_2716delTTAA	CCDS11257.1																																																																																				0.417	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
ORMDL3	94103	broad.mit.edu	37	17	38080398	38080398	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:38080398C>T	ENST00000394169.1	-	4	1553	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20H|ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20H|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20H			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	20					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCAGATGCCACGGCTGTTCAT	0.602																																						uc002htj.1																			0					0						c.(58-60)CGT>CAT		ORM1-like 3							218.0	166.0	183.0					17																	38080398		2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38080398C>T		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.59G>A	17.37:g.38080398C>T	ENSP00000377724:p.Arg20His					ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.R20H	p.R20H	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		2	199	-	Colorectal(19;0.000442)		20			Cytoplasmic (Potential).		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.59G>A	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901014	0.72754	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86221	0.1631	9	0.66056	D	0.02	-12.2783	20.428	0.99075	0.0:1.0:0.0:0.0	.	20	Q8N138	ORML3_HUMAN	H	20	.	ENSP00000304858:R20H	R	-	2	0	ORMDL3	35333924	1.000000	0.71417	0.912000	0.35992	0.333000	0.28666	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	CGT		0.602	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280	
CNTNAP1	8506	broad.mit.edu	37	17	40837035	40837035	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:40837035G>A	ENST00000264638.4	+	4	607	c.390G>A	c.(388-390)tcG>tcA	p.S130S	CTD-3193K9.3_ENST00000592440.1_RNA|CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	130	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGAACGAGTCGGCGGTGGTGC	0.562																																						uc002iay.2																			0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(388-390)TCG>TCA		contactin associated protein 1 precursor							83.0	73.0	76.0					17																	40837035		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837035G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.390G>A	17.37:g.40837035G>A						CNTNAP1_uc010wgs.1_RNA	p.S130S	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	4	606	+		Breast(137;0.000143)	130			Extracellular (Potential).|F5/8 type C.			Silent	SNP	ENST00000264638.4	37	c.390G>A	CCDS11436.1																																																																																				0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
WIPI1	55062	broad.mit.edu	37	17	66449078	66449078	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:66449078C>T	ENST00000262139.5	-	2	135	c.136G>A	c.(136-138)Gag>Aag	p.E46K	WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	46					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TCCAGCTGCTCCACAGAACTC	0.488																																						uc010dey.2																			0					0						c.(136-138)GAG>AAG		WD repeat domain, phosphoinositide interacting							123.0	107.0	113.0					17																	66449078		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66449078C>T		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.136G>A	17.37:g.66449078C>T	ENSP00000262139:p.Glu46Lys					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Intron|WIPI1_uc002jhe.3_Intron	p.E46K	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			2	227	-			46					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.136G>A	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776301	0.90195	.	.	ENSG00000070540	ENST00000262139	T	0.68025	-0.3	6.11	6.11	0.99139	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.109001	0.64402	D	0.000008	T	0.63212	0.2492	L	0.36672	1.1	0.80722	D	1	P	0.41910	0.764	P	0.46026	0.501	T	0.55515	-0.8129	10	0.08599	T	0.76	-13.217	18.9147	0.92501	0.0:1.0:0.0:0.0	.	46	Q5MNZ9	WIPI1_HUMAN	K	46	ENSP00000262139:E46K	ENSP00000262139:E46K	E	-	1	0	WIPI1	63960673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.789000	0.75110	2.906000	0.99361	0.655000	0.94253	GAG		0.488	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
GPR142	350383	broad.mit.edu	37	17	72368095	72368095	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:72368095G>A	ENST00000335666.4	+	4	793	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	249						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGTCTGGATCGCCATCCTGCT	0.692																																						uc010wqy.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(745-747)GCC>ACC		G protein-coupled receptor 142							78.0	59.0	65.0					17																	72368095		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368095G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.745G>A	17.37:g.72368095G>A	ENSP00000335158:p.Ala249Thr					GPR142_uc010wqx.1_Missense_Mutation_p.A161T	p.A249T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	745	+			249			Helical; Name=3; (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.745G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343737	0.41498	.	.	ENSG00000257008	ENST00000335666	T	0.71934	-0.61	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.120186	0.64402	D	0.000017	T	0.42988	0.1227	N	0.05230	-0.09	0.40613	D	0.98169	B;B	0.33528	0.008;0.416	B;B	0.36186	0.003;0.219	T	0.51896	-0.8647	10	0.02654	T	1	-26.6285	7.4154	0.27042	0.2077:0.0:0.7923:0.0	.	249;1211	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	249	ENSP00000335158:A249T	ENSP00000335158:A249T	A	+	1	0	GPR142	69879690	0.805000	0.28982	0.985000	0.45067	0.894000	0.52154	2.206000	0.42779	2.708000	0.92522	0.650000	0.86243	GCC		0.692	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790	
ST8SIA5	29906	broad.mit.edu	37	18	44260035	44260035	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:44260035G>A	ENST00000315087.7	-	7	1761	c.1101C>T	c.(1099-1101)cgC>cgT	p.R367R	ST8SIA5_ENST00000536490.1_Silent_p.R336R|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.R403R	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	367					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCGTGTGCACGCGGAGGATGC	0.652																																						uc002lcj.1																			0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(1099-1101)CGC>CGT		ST8 alpha-N-acetyl-neuraminide							47.0	50.0	49.0					18																	44260035		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260035G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.1101C>T	18.37:g.44260035G>A						ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc010xcy.1_Silent_p.R403R|ST8SIA5_uc010xcz.1_Silent_p.R336R	p.R367R	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1669	-			367			Lumenal (Potential).		B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.1101C>T	CCDS11930.1																																																																																				0.652	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
CDH7	1005	broad.mit.edu	37	18	63430143	63430143	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:63430143C>T	ENST00000397968.2	+	2	491	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CDH7_ENST00000536984.2_Missense_Mutation_p.S22F|CDH7_ENST00000323011.3_Missense_Mutation_p.S22F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	22					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGTGTTTTTCTGGGATGAGT	0.433																																						uc002ljz.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(64-66)TCT>TTT		cadherin 7, type 2 preproprotein							101.0	100.0	100.0					18																	63430143		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63430143C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.65C>T	18.37:g.63430143C>T	ENSP00000381058:p.Ser22Phe					CDH7_uc002lka.2_Missense_Mutation_p.S22F|CDH7_uc002lkb.2_Missense_Mutation_p.S22F	p.S22F	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			2	390	+		Esophageal squamous(42;0.129)	22					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.65C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999669	0.35320	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55930	0.49;0.52;0.49	5.56	5.56	0.83823	.	0.150462	0.47455	D	0.000235	T	0.65186	0.2667	L	0.50333	1.59	0.53005	D	0.999962	P;D	0.61697	0.887;0.99	P;D	0.69142	0.571;0.962	T	0.56426	-0.7981	10	0.09338	T	0.73	.	19.5386	0.95266	0.0:1.0:0.0:0.0	.	22;22	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	22	ENSP00000319166:S22F;ENSP00000443030:S22F;ENSP00000381058:S22F	ENSP00000319166:S22F	S	+	2	0	CDH7	61581123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.305000	0.43664	2.610000	0.88304	0.650000	0.86243	TCT		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.2																			12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						uc002pbq.1																			0				large_intestine(2)|ovary(2)	4						c.(631-636)CGGAAG>CGG		CD3E antigen, epsilon polypeptide associated			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del	p.K217del	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	217			Poly-Lys.		Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
KLK15	55554	broad.mit.edu	37	19	51330305	51330305	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:51330305G>A	ENST00000598239.1	-	3	340	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	KLK15_ENST00000301421.2_Missense_Mutation_p.R104C|KLK15_ENST00000416184.1_Missense_Mutation_p.R104C|KLK15_ENST00000326856.4_Missense_Mutation_p.R103C|KLK15_ENST00000596931.1_Missense_Mutation_p.R103C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ATGTCGTTGCGGTGGCTGCGC	0.697																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			0				lung(1)|breast(1)	2						c.(310-312)CGC>TGC		kallikrein-related peptidase 15 isoform 4							66.0	59.0	62.0					19																	51330305		2203	4299	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330305G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.310C>T	19.37:g.51330305G>A	ENSP00000469315:p.Arg104Cys					KLK15_uc002ptm.2_Missense_Mutation_p.R104C|KLK15_uc002ptn.2_Missense_Mutation_p.R104C|KLK15_uc002pto.2_Missense_Mutation_p.R103C|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R103C|KLK15_uc010eod.2_RNA	p.R104C	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	341	-		all_neural(266;0.057)	104			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.310C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	18.91	3.723318	0.68959	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88975	-2.45;-2.45	4.5	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	D	0.90594	0.7051	L	0.45470	1.425	0.09310	N	0.999998	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;P;D;D	0.70487	0.915;0.892;0.921;0.969	T	0.78969	-0.1994	10	0.87932	D	0	.	5.4123	0.16354	0.0942:0.0:0.5422:0.3636	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	104	ENSP00000415136:R104C;ENSP00000301421:R104C	ENSP00000301421:R104C	R	-	1	0	KLK15	56022117	0.008000	0.16893	0.038000	0.18304	0.232000	0.25224	1.006000	0.29847	0.612000	0.30071	0.555000	0.69702	CGC		0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
NLRP5	126206	broad.mit.edu	37	19	56539657	56539657	+	Silent	SNP	C	C	T	rs374537249		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:56539657C>T	ENST00000390649.3	+	7	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	686					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACACCCTGGACGCCTTCCACT	0.542																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2056-2058)GAC>GAT		NACHT, LRR and PYD containing protein 5		C		1,3889		0,1,1944	89.0	93.0	92.0		2058	-6.5	0.0	19		92	1,8277		0,1,4138	no	coding-synonymous	NLRP5	NM_153447.4		0,2,6082	TT,TC,CC		0.0121,0.0257,0.0164		686/1201	56539657	2,12166	1945	4139	6084	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539657C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2058C>T	19.37:g.56539657C>T						NLRP5_uc002qmi.2_Silent_p.D667D	p.D686D	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2058	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	686					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2058C>T	CCDS12938.1																																																																																				0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
APOB	338	broad.mit.edu	37	2	21230333	21230333	+	Missense_Mutation	SNP	C	C	T	rs199590149		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:21230333C>T	ENST00000233242.1	-	26	9534	c.9407G>A	c.(9406-9408)cGt>cAt	p.R3136H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3136					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3136H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAAGGTAGACGCATTTCAGG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19355	0.0		0.001	False		,,,				2504	0.0					uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9406-9408)CGT>CAT		apolipoprotein B precursor	Atorvastatin(DB01076)						112.0	116.0	115.0					2																	21230333		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230333C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9407G>A	2.37:g.21230333C>T	ENSP00000233242:p.Arg3136His						p.R3136H	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9535	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3136					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9407G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029657	0.02045	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36340	1.26	5.68	1.68	0.24146	.	0.768179	0.12102	N	0.499372	T	0.13586	0.0329	N	0.01874	-0.695	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.23226	-1.0194	10	0.40728	T	0.16	.	6.1252	0.20176	0.068:0.0924:0.294:0.5456	.	3136	P04114	APOB_HUMAN	H	3136	ENSP00000233242:R3136H	ENSP00000233242:R3136H	R	-	2	0	APOB	21083838	0.000000	0.05858	0.113000	0.21522	0.067000	0.16453	0.603000	0.24149	0.013000	0.14918	-1.639000	0.00775	CGT		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
NRXN1	9378	broad.mit.edu	37	2	50573861	50573861	+	Intron	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:50573861T>C	ENST00000406316.2	-	18	4841				NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y76C|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000404971.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGTGACCTGTAGATTGCAAT	0.602																																						uc010fbp.2																			0				ovary(2)	2						c.(226-228)TAC>TGC		neurexin 1 isoform beta precursor							97.0	76.0	84.0					2																	50573861		2203	4300	6503	SO:0001627	intron_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50573861T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109753A>G	2.37:g.50573861T>C						NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	p.Y76C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		1	1034	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	76			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.227A>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019745	0.35606	.	.	ENSG00000179915	ENST00000342183;ENST00000536347	T	0.44881	0.91	5.05	3.81	0.43845	.	.	.	.	.	T	0.39384	0.1076	L	0.32530	0.975	0.80722	D	1	P	0.47762	0.9	P	0.48873	0.593	T	0.30937	-0.9961	9	0.62326	D	0.03	.	10.6973	0.45907	0.1429:0.0:0.0:0.8571	.	76	P58400	NRX1B_HUMAN	C	76;30	ENSP00000341184:Y76C	ENSP00000341184:Y76C	Y	-	2	0	NRXN1	50427365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.944000	0.63561	1.916000	0.55485	0.379000	0.24179	TAC		0.602	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
WDPCP	51057	broad.mit.edu	37	2	63849736	63849736	+	IGR	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:63849736G>A								MDH1 (15405 upstream) : RPS4XP5 (19852 downstream)																							GATGTACACCGAGTGAGCAAC	0.552																																						uc002sck.1																			0					0						c.(229-231)TCG>TTG		SubName: Full=Px19-like protein, isoform CRA_c; SubName: Full=cDNA, FLJ92457, Homo sapiens px19-like protein (PX19), mRNA;																																				SO:0001628	intergenic_variant	388955							g.chr2:63849736G>A																													2.37:g.63849736G>A							p.S77L	NR_003131						1	424	-									Missense_Mutation	SNP		37	c.230C>T																																																																																				0	0.552								
ETAA1	54465	broad.mit.edu	37	2	67631223	67631226	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:67631223_67631226delCAAA	ENST00000272342.5	+	5	1539_1542	c.1409_1412delCAAA	c.(1408-1413)tcaaacfs	p.SN470fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	470						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAATAAATCAAACAAATTATCC	0.265																																						uc002sdz.1																			0				ovary(3)|large_intestine(1)	4						c.(1408-1413)TCAAACfs		ETAA16 protein																																				SO:0001589	frameshift_variant	54465					cytoplasm|nucleus		g.chr2:67631223_67631226delCAAA	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1409_1412delCAAA	2.37:g.67631227_67631230delCAAA	ENSP00000272342:p.Ser470fs						p.S470fs	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	1548_1551	+			470_471					Q05BT7|Q53SC4	Frame_Shift_Del	DEL	ENST00000272342.5	37	c.1409_1412delCAAA	CCDS1882.1																																																																																				0.265	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	rs201264205		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(1888-1890)CGC>TGC		solute carrier family 9 (sodium/hydrogen		C	CYS/ARG	0,4406		0,0,2203	159.0	166.0	164.0		1888	5.8	1.0	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			10	2345	+			630			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
LY75	4065	broad.mit.edu	37	2	160711043	160711043	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:160711043C>T	ENST00000263636.4	-	18	2450	c.2423G>A	c.(2422-2424)cGt>cAt	p.R808H	LY75_ENST00000554112.1_Missense_Mutation_p.R808H|LY75_ENST00000553424.1_Missense_Mutation_p.R808H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R808H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R808H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	808					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R808H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATTCCAGCACGGTCTAAAGA	0.363																																						uc002ubc.3																			1	Substitution - Missense(1)		prostate(1)		0						c.(2422-2424)CGT>CAT		lymphocyte antigen 75 precursor							65.0	65.0	65.0					2																	160711043		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160711043C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2423G>A	2.37:g.160711043C>T	ENSP00000263636:p.Arg808His					LY75_uc002ubb.3_Missense_Mutation_p.R808H|LY75_uc010fos.2_Missense_Mutation_p.R808H	p.R808H	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	18	2492	-			808			Extracellular (Potential).		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.2423G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061440	0.76187	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09817	2.97;2.97;2.94;2.97;2.97	5.69	5.69	0.88448	.	0.000000	0.33075	U	0.005307	T	0.30103	0.0754	M	0.72479	2.2	0.35001	D	0.755982	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.92;0.904;0.966	T	0.21449	-1.0245	10	0.23302	T	0.38	-17.1381	15.3069	0.73998	0.0:1.0:0.0:0.0	.	808;808;808	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	808	ENSP00000451511:R808H;ENSP00000451446:R808H;ENSP00000263636:R808H;ENSP00000423463:R808H;ENSP00000421035:R808H	ENSP00000423463:R808H	R	-	2	0	LY75;LY75-CD302	160419289	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.929000	0.40114	2.658000	0.90341	0.655000	0.94253	CGT		0.363	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
TGM3	7053	broad.mit.edu	37	20	2312692	2312692	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:2312692C>T	ENST00000381458.5	+	10	1441	c.1378C>T	c.(1378-1380)Ctt>Ttt	p.L460F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	460					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGGGGAAACTTAAACCCAA	0.522																																						uc002wfx.3																			0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1378-1380)CTT>TTT		transglutaminase 3 precursor	L-Glutamine(DB00130)						78.0	70.0	72.0					20																	2312692		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2312692C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1378C>T	20.37:g.2312692C>T	ENSP00000370867:p.Leu460Phe						p.L460F	NM_003245	NP_003236	Q08188	TGM3_HUMAN			10	1475	+			460					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1378C>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430234	0.43122	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.80214	-1.35	5.3	5.3	0.74995	.	0.394451	0.26605	N	0.023450	T	0.77425	0.4128	M	0.64997	1.995	0.50039	D	0.999845	P	0.51147	0.942	B	0.41466	0.358	T	0.80360	-0.1415	10	0.66056	D	0.02	.	11.3794	0.49748	0.1804:0.8196:0.0:0.0	.	460	Q08188	TGM3_HUMAN	F	460	ENSP00000370867:L460F	ENSP00000370867:L460F	L	+	1	0	TGM3	2260692	0.590000	0.26815	0.996000	0.52242	0.196000	0.23810	0.092000	0.15066	2.757000	0.94681	0.655000	0.94253	CTT		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
RPRD1B	58490	broad.mit.edu	37	20	36687859	36687859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36687859C>T	ENST00000373433.4	+	5	994	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	198					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGCTACTGTCCGACAGAAAAT	0.433																																						uc002xho.3																			0				pancreas(1)	1						c.(592-594)CGA>TGA		Regulation of nuclear pre-mRNA domain containing							115.0	105.0	108.0					20																	36687859		2203	4300	6503	SO:0001587	stop_gained	58490							g.chr20:36687859C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.592C>T	20.37:g.36687859C>T	ENSP00000362532:p.Arg198*						p.R198*	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			5	994	+			198					Q1WDE7|Q6PKF4	Nonsense_Mutation	SNP	ENST00000373433.4	37	c.592C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049537	0.55218	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.53	4.54	0.55810	.	0.101356	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8843	13.8845	0.63699	0.2224:0.7776:0.0:0.0	.	.	.	.	X	198;80	.	ENSP00000362532:R198X	R	+	1	2	RPRD1B	36121273	0.991000	0.36638	1.000000	0.80357	0.906000	0.53458	2.851000	0.48302	2.882000	0.98803	0.655000	0.94253	CGA		0.433	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	
LBP	3929	broad.mit.edu	37	20	36995435	36995435	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36995435G>A	ENST00000217407.2	+	9	1105	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	315					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTAATATCCGACTGACCACC	0.537																																						uc002xic.1																			0				ovary(1)|central_nervous_system(1)	2						c.(943-945)CGA>CAA		lipopolysaccharide-binding protein precursor							170.0	148.0	156.0					20																	36995435		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36995435G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.944G>A	20.37:g.36995435G>A	ENSP00000217407:p.Arg315Gln						p.R315Q	NM_004139	NP_004130	P18428	LBP_HUMAN			9	979	+		Myeloproliferative disorder(115;0.00878)	315					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.944G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622732	0.46840	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.12147	2.71	5.25	4.26	0.50523	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.372188	0.23196	N	0.050850	T	0.17238	0.0414	M	0.69523	2.12	0.09310	N	1	P	0.39116	0.66	B	0.41646	0.362	T	0.09773	-1.0659	10	0.18710	T	0.47	-5.4197	9.0324	0.36267	0.1068:0.0:0.8932:0.0	.	315	P18428	LBP_HUMAN	Q	315	ENSP00000217407:R315Q	ENSP00000217407:R315Q	R	+	2	0	LBP	36428849	0.865000	0.29922	0.019000	0.16419	0.043000	0.13939	2.123000	0.41996	1.485000	0.48380	-0.345000	0.07892	CGA		0.537	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
CHD6	84181	broad.mit.edu	37	20	40065924	40065924	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:40065924T>G	ENST00000373233.3	-	27	4235	c.4058A>C	c.(4057-4059)cAg>cCg	p.Q1353P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1353					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTTGTTTCTGGAGGCCATC	0.398																																						uc002xka.1																			0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4057-4059)CAG>CCG		chromodomain helicase DNA binding protein 6							216.0	175.0	189.0					20																	40065924		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065924T>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4058A>C	20.37:g.40065924T>G	ENSP00000362330:p.Gln1353Pro					CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	p.Q1353P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			27	4236	-		Myeloproliferative disorder(115;0.00425)	1353					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4058A>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794098	0.31777	.	.	ENSG00000124177	ENST00000373233	T	0.79940	-1.32	5.22	4.08	0.47627	.	0.116753	0.39146	N	0.001457	T	0.67505	0.2900	L	0.28192	0.835	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.59059	-0.7525	10	0.27785	T	0.31	-9.2586	10.1694	0.42900	0.0:0.0:0.1678:0.8322	.	1353	Q8TD26	CHD6_HUMAN	P	1353	ENSP00000362330:Q1353P	ENSP00000362330:Q1353P	Q	-	2	0	CHD6	39499338	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.255000	0.43222	0.888000	0.36160	0.533000	0.62120	CAG		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
KCNB1	3745	broad.mit.edu	37	20	48098620	48098620	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:48098620C>T	ENST00000371741.4	-	1	564	c.398G>A	c.(397-399)tGc>tAc	p.C133Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	133					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GCGGGCCTGGCAGCAGGACTC	0.607																																						uc002xur.1																			0				pancreas(1)|skin(1)	2						c.(397-399)TGC>TAC		potassium voltage-gated channel, Shab-related							113.0	91.0	98.0					20																	48098620		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098620C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.398G>A	20.37:g.48098620C>T	ENSP00000360806:p.Cys133Tyr					KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	p.C133Y	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	562	-			133			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.398G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346364	0.82022	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97976	-4.64	5.15	5.15	0.70609	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99585	1.0974	10	0.87932	D	0	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	133	Q14721	KCNB1_HUMAN	Y	133;88	ENSP00000360806:C133Y	ENSP00000360806:C133Y	C	-	2	0	KCNB1	47532027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.676000	0.91093	0.563000	0.77884	TGC		0.607	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
KRTAP20-2	337976	broad.mit.edu	37	21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr21:32007616C>T	ENST00000330798.2	+	1	62	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517																																						uc011adg.1																			0				central_nervous_system(1)	1						c.(34-36)CGT>TGT		keratin associated protein 20-2							188.0	153.0	165.0					21																	32007616		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007616C>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.34C>T	21.37:g.32007616C>T	ENSP00000330746:p.Arg12Cys						p.R12C	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			1	34	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.34C>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	C	6.118	0.389983	0.11581	.	.	ENSG00000184032	ENST00000330798	T	0.09723	2.95	3.45	2.57	0.30868	.	0.000000	0.40908	U	0.000993	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.41202	0.35	T	0.15492	-1.0435	9	0.87932	D	0	.	8.9659	0.35877	0.0:0.2289:0.7711:0.0	.	12	Q3LI61	KR202_HUMAN	C	12	ENSP00000330746:R12C	ENSP00000330746:R12C	R	+	1	0	KRTAP20-2	30929487	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.216000	0.17585	0.802000	0.34089	-0.128000	0.14901	CGT		0.517	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3		
POTEH	23784	broad.mit.edu	37	22	16279238	16279238	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:16279238T>C	ENST00000343518.6	-	4	1036	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTCTTGATTAAAAATTTC	0.338																																						uc010gqp.2																			0				skin(1)	1						c.(985-987)ATC>GTC		ANKRD26-like family C, member 3																																				SO:0001583	missense	23784							g.chr22:16279238T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.985A>G	22.37:g.16279238T>C	ENSP00000340610:p.Ile329Val					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	p.I329V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			4	1037	-			329			ANK 5.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.985A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	6.838	0.523912	0.13066	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.66280	-0.2	1.38	0.287	0.15714	Ankyrin repeat-containing domain (4);	1.813340	0.04313	N	0.349294	T	0.63628	0.2527	N	0.21142	0.635	0.09310	N	1	B;D	0.54397	0.127;0.966	B;D	0.73380	0.376;0.98	T	0.52026	-0.8630	10	0.37606	T	0.19	.	3.5746	0.07930	0.0:0.7261:0.0:0.2739	.	329;292	Q6S545;A6NKF6	POTEH_HUMAN;.	V	292;329	ENSP00000340610:I329V	ENSP00000340610:I329V	I	-	1	0	POTEH	14659238	0.003000	0.15002	0.011000	0.14972	0.196000	0.23810	-1.006000	0.03671	0.145000	0.18977	0.147000	0.16070	ATC		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
PRODH	5625	broad.mit.edu	37	22	18912582	18912582	+	Missense_Mutation	SNP	G	G	A	rs147270439	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:18912582G>A	ENST00000357068.6	-	4	914	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PRODH_ENST00000334029.2_Missense_Mutation_p.R109C|PRODH_ENST00000420436.1_Missense_Mutation_p.R109C	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	217					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCGATGCAGCGCAAGAATGTC	0.632																																						uc010grl.2																			0				breast(1)	1						c.(649-651)CGC>TGC		proline dehydrogenase 1	L-Proline(DB00172)						108.0	96.0	100.0					22																	18912582		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18912582G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.649C>T	22.37:g.18912582G>A	ENSP00000349577:p.Arg217Cys					PRODH_uc002zoj.3_Missense_Mutation_p.R107C|PRODH_uc002zol.3_Missense_Mutation_p.R107C|PRODH_uc002zok.3_Missense_Mutation_p.R217C	p.R217C	NM_016335	NP_057419	O43272	PROD_HUMAN			4	663	-			217					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.649C>T	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.70|14.70	2.612457|2.612457	0.46631|0.46631	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000457083|ENST00000357068;ENST00000438924;ENST00000450579	.|T;T	.|0.78003	.|-1.14;-1.14	5.01|5.01	3.93|3.93	0.45458|0.45458	.|.	.|0.594521	.|0.18101	.|N	.|0.151666	T|T	0.78935|0.78935	0.4362|0.4362	L|L	0.50333|0.50333	1.59|1.59	0.33143|0.33143	D|D	0.544573|0.544573	.|D;D;D	.|0.67145	.|0.996;0.994;0.993	.|P;B;B	.|0.53146	.|0.719;0.409;0.427	D|D	0.83707|0.83707	0.0185|0.0185	5|10	.|0.62326	.|D	.|0.03	-12.377|-12.377	11.4409|11.4409	0.50096|0.50096	0.0:0.0:0.7283:0.2717|0.0:0.0:0.7283:0.2717	.|.	.|133;217;109	.|O43272-1;O43272;E7EQL6	.|.;PROD_HUMAN;.	V|C	140|217;99;58	.|ENSP00000349577:R217C;ENSP00000396806:R58C	.|ENSP00000334726:R109C	A|R	-|-	2|1	0|0	PRODH|PRODH	17292582|17292582	0.123000|0.123000	0.22298|0.22298	0.973000|0.973000	0.42090|0.42090	0.358000|0.358000	0.29455|0.29455	0.832000|0.832000	0.27490|0.27490	2.523000|2.523000	0.85059|0.85059	0.444000|0.444000	0.29173|0.29173	GCG|CGC		0.632	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335	
MAPK1	5594	broad.mit.edu	37	22	22142632	22142632	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:22142632T>C	ENST00000215832.6	-	6	958	c.770A>G	c.(769-771)aAt>aGt	p.N257S	MAPK1_ENST00000544786.1_Intron|MAPK1_ENST00000398822.3_Missense_Mutation_p.N257S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGCTTTTAAATTTATTATACA	0.353																																						uc002zvn.2																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(769-771)AAT>AGT		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						79.0	83.0	82.0					22																	22142632		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22142632T>C	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.770A>G	22.37:g.22142632T>C	ENSP00000215832:p.Asn257Ser					MAPK1_uc002zvo.2_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	p.N257S	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	6	1010	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	257			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.770A>G	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069398	0.36470	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.63096	-0.02;-0.02	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	N	0.21583	0.68	0.80722	D	1	P	0.45396	0.857	P	0.52672	0.706	T	0.53180	-0.8475	10	0.07325	T	0.83	-24.1263	16.5655	0.84588	0.0:0.0:0.0:1.0	.	257	P28482	MK01_HUMAN	S	257;245;257	ENSP00000215832:N257S;ENSP00000381803:N257S	ENSP00000215832:N257S	N	-	2	0	MAPK1	20472632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	2.302000	0.77476	0.533000	0.62120	AAT		0.353	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
TMPRSS6	164656	broad.mit.edu	37	22	37470715	37470715	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:37470715C>T	ENST00000346753.3	-	12	1519	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G459E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G459E|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G459E	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	468	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACACAGAGTCCATTCACAGA	0.632																																						uc003aqs.1																			0				breast(4)|ovary(1)|skin(1)	6						c.(1402-1404)GGA>GAA		transmembrane protease, serine 6							116.0	87.0	97.0					22																	37470715		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37470715C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1403G>A	22.37:g.37470715C>T	ENSP00000334962:p.Gly468Glu					TMPRSS6_uc003aqt.1_Missense_Mutation_p.G459E	p.G468E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			12	1517	-			468			LDL-receptor class A 1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1403G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442794	0.83993	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.24	5.24	0.73138	.	0.115978	0.64402	D	0.000019	T	0.74974	0.3787	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77281	-0.2646	10	0.72032	D	0.01	.	18.8114	0.92059	0.0:1.0:0.0:0.0	.	459;468	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	E	459;468;459;459	ENSP00000371211:G459E;ENSP00000334962:G468E;ENSP00000385453:G459E;ENSP00000384964:G459E	ENSP00000334962:G468E	G	-	2	0	TMPRSS6	35800661	1.000000	0.71417	0.598000	0.28837	0.670000	0.39368	5.870000	0.69620	2.443000	0.82685	0.462000	0.41574	GGA		0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
TRANK1	9881	broad.mit.edu	37	3	36898731	36898731	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:36898731C>T	ENST00000429976.2	-	12	2597	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	TRANK1_ENST00000301807.6_Missense_Mutation_p.D234N|TRANK1_ENST00000428977.2_Missense_Mutation_p.D234N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	784							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATCGAAGTCCTGGAGGCAG	0.502																																						uc003cgj.2																			0				ovary(1)|central_nervous_system(1)	2						c.(700-702)GAC>AAC		lupus brain antigen 1							231.0	224.0	226.0					3																	36898731		2043	4209	6252	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898731C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2350G>A	3.37:g.36898731C>T	ENSP00000416168:p.Asp784Asn						p.D234N	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1002	-			784					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.700G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615770	0.66672	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32753	1.44;1.85;1.44	5.64	4.76	0.60689	.	0.110353	0.39759	N	0.001265	T	0.29652	0.0740	L	0.34521	1.04	0.37440	D	0.914388	D	0.56035	0.974	P	0.45310	0.476	T	0.29792	-1.0000	10	0.59425	D	0.04	.	15.206	0.73180	0.0:0.9315:0.0:0.0685	.	784	O15050	TRNK1_HUMAN	N	234;784;234	ENSP00000416826:D234N;ENSP00000416168:D784N;ENSP00000301807:D234N	ENSP00000301807:D234N	D	-	1	0	TRANK1	36873735	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.313000	0.59160	1.513000	0.48852	0.655000	0.94253	GAC		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
CEP97	79598	broad.mit.edu	37	3	101451368	101451368	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:101451368T>G	ENST00000341893.3	+	6	1350	c.598T>G	c.(598-600)Ttg>Gtg	p.L200V	CEP97_ENST00000494050.1_Missense_Mutation_p.L200V|CEP97_ENST00000327230.4_Missense_Mutation_p.L200V			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	200					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGGAACAGTTGTCGATTAT	0.418																																						uc003dvk.1																			0				ovary(2)	2						c.(598-600)TTG>GTG		centrosomal protein 97kDa							135.0	121.0	126.0					3																	101451368		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451368T>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.598T>G	3.37:g.101451368T>G	ENSP00000342510:p.Leu200Val					CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	p.L200V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			6	625	+			200			LRR 8.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.598T>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741958	0.69418	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53206	1.23;1.23;0.63	5.82	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.79475	2.455	0.47441	D	0.999427	D;D;D	0.89917	1.0;0.999;0.99	D;D;D	0.83275	0.996;0.992;0.981	T	0.66885	-0.5810	10	0.52906	T	0.07	-6.5251	9.2699	0.37664	0.0:0.1552:0.0:0.8448	.	200;200;200	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	V	200	ENSP00000342510:L200V;ENSP00000325881:L200V;ENSP00000418185:L200V	ENSP00000325881:L200V	L	+	1	2	CEP97	102934058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.109000	0.50345	1.044000	0.40200	0.460000	0.39030	TTG		0.418	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
TMPRSS7	344805	broad.mit.edu	37	3	111799811	111799811	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:111799811G>T	ENST00000452346.2	+	18	2415	c.2412G>T	c.(2410-2412)tgG>tgT	p.W804C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.W678C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	804	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGAAAATGGATTTTGACTG	0.403																																						uc010hqb.2																			0				ovary(1)|kidney(1)	2						c.(2032-2034)TGG>TGT		transmembrane protease, serine 7							266.0	260.0	262.0					3																	111799811		1979	4159	6138	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111799811G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2412G>T	3.37:g.111799811G>T	ENSP00000398236:p.Trp804Cys					TMPRSS7_uc011bhr.1_Missense_Mutation_p.W533C	p.W678C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			16	2204	+			804			Extracellular (Potential).|Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2034G>T		.	.	.	.	.	.	.	.	.	.	G	19.29	3.799750	0.70567	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.63096	-0.02;-0.02	5.75	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88415	0.3024	10	0.87932	D	0	.	13.7888	0.63126	0.0749:0.0:0.9251:0.0	.	804;678	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	804;792;778;678	ENSP00000398236:W804C;ENSP00000411645:W678C	ENSP00000411645:W678C	W	+	3	0	TMPRSS7	113282501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.943000	0.92975	1.453000	0.47775	0.650000	0.86243	TGG		0.403	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000433243.2_Silent_p.S3S|MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000472280.1_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000494292.1_Silent_p.S191S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458																																						uc003ffi.3																			0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(7-9)AGC>AGT		MDS1 and EVI1 complex locus isoform b							156.0	102.0	120.0					3																	168849257		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168849257G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.9C>T	3.37:g.168849257G>A						MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpj.1_Silent_p.S191S|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	p.S3S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			3	278	-			3			Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.9C>T	CCDS54669.1																																																																																				0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
PIK3CA	5290	broad.mit.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {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.E81K(8)		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)	AGAAAGGGAAGAATTTTTTGA	0.358		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		8	Substitution - Missense(8)	p.E81K(2)	endometrium(4)|large_intestine(3)|breast(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.(241-243)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							107.0	101.0	103.0					3																	178916854		1820	4081	5901	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.chr3:178916854G>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.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E81K	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)		2	398	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		81			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.241G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LAMP3	27074	broad.mit.edu	37	3	182870190	182870190	+	Silent	SNP	G	G	A	rs369565285		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:182870190G>A	ENST00000265598.3	-	3	1116	c.861C>T	c.(859-861)ggC>ggT	p.G287G	LAMP3_ENST00000466939.1_Silent_p.G263G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	287					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAAATCCGCCCTGAAAAT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.001					uc003flh.3																			0				ovary(2)|central_nervous_system(1)	3						c.(859-861)GGC>GGT		lysosomal-associated membrane protein 3		G		1,4405	2.1+/-5.4	0,1,2202	133.0	142.0	139.0		861	-10.8	0.0	3		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMP3	NM_014398.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		287/417	182870190	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870190G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.861C>T	3.37:g.182870190G>A							p.G287G	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1085	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		287			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.861C>T	CCDS3242.1																																																																																				0.512	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
LSG1	55341	broad.mit.edu	37	3	194373563	194373563	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:194373563C>T	ENST00000265245.5	-	8	1382	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	356	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AATTGTGTATCTGCCTCTTCT	0.507																																						uc003fui.2																			0					0						c.(1066-1068)CAG>CAA		large subunit GTPase 1							183.0	176.0	178.0					3																	194373563		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373563C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1068G>A	3.37:g.194373563C>T							p.Q356Q	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	8	1383	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		356					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.1068G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997554	0.19043	.	.	ENSG00000041802	ENST00000437613	.	.	.	6.02	-4.29	0.03721	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	8.3956	0.32555	0.0:0.4001:0.1789:0.421	.	.	.	.	K	90	.	.	R	-	2	0	LSG1	195854852	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-2.365000	0.01079	-0.972000	0.03559	0.655000	0.94253	AGA		0.507	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385	
PCDH7	5099	broad.mit.edu	37	4	30725808	30725808	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:30725808T>C	ENST00000361762.2	+	1	3772	c.2764T>C	c.(2764-2766)Ttt>Ctt	p.F922L	PCDH7_ENST00000543491.1_Missense_Mutation_p.F922L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	922					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCACGAAGACTTTTTTACACC	0.383																																						uc003gsk.1																			0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2764-2766)TTT>CTT		protocadherin 7 isoform a precursor							81.0	85.0	84.0					4																	30725808		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725808T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2764T>C	4.37:g.30725808T>C	ENSP00000355243:p.Phe922Leu					PCDH7_uc011bxw.1_Missense_Mutation_p.F875L|PCDH7_uc011bxx.1_Missense_Mutation_p.F922L	p.F922L	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3772	+			922			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2764T>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.568|8.568	0.879356|0.879356	0.17467|0.17467	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.30182|.	1.54;1.54|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	N|N	0.20401|0.20401	0.57|0.57	0.53005|0.53005	D|D	0.999966|0.999966	B;P;P|.	0.50819|.	0.053;0.925;0.939|.	B;P;P|.	0.54664|.	0.063;0.712;0.758|.	T|T	0.47623|0.47623	-0.9103|-0.9103	9|5	0.12430|.	T|.	0.62|.	.|.	15.1597|15.1597	0.72775|0.72775	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	922;875;922|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	L|P	922;922;875|611	ENSP00000355243:F922L;ENSP00000441802:F922L|.	ENSP00000330302:F875L|.	F|L	+|+	1|2	0|0	PCDH7|PCDH7	30334906|30334906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.807000|5.807000	0.69157|0.69157	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.383	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
SMR3B	10879	broad.mit.edu	37	4	71255518	71255518	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:71255518G>A	ENST00000304915.3	+	3	342	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SMR3B_ENST00000504825.1_Missense_Mutation_p.A65T	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	65	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				TCCTCCTCCCGCACCCTATGG	0.602																																						uc011cas.1																			0				skin(1)	1						c.(193-195)GCA>ACA		submaxillary gland androgen regulated protein 3							117.0	109.0	112.0					4																	71255518		2203	4300	6503	SO:0001583	missense	10879					extracellular space		g.chr4:71255518G>A	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.193G>A	4.37:g.71255518G>A	ENSP00000302400:p.Ala65Thr					SMR3B_uc003hfh.2_Missense_Mutation_p.A65T	p.A65T	NM_006685	NP_006676	P02814	SMR3B_HUMAN			3	274	+		all_hematologic(202;0.196)	65			Poly-Pro.|Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.193G>A	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	2.722	-0.266384	0.05754	.	.	ENSG00000171201	ENST00000504825;ENST00000304915	T;T	0.29655	1.56;1.56	1.24	0.345	0.16011	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.25012	-1.0144	8	0.87932	D	0	.	5.2029	0.15275	0.0:0.617:0.383:0.0	.	65	P02814	SMR3B_HUMAN	T	65	ENSP00000423138:A65T;ENSP00000302400:A65T	ENSP00000302400:A65T	A	+	1	0	SMR3B	71290107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.099000	0.11007	0.085000	0.17107	-1.087000	0.02190	GCA		0.602	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685	
AFM	173	broad.mit.edu	37	4	74364954	74364954	+	Silent	SNP	T	T	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:74364954T>A	ENST00000226355.3	+	11	1506	c.1413T>A	c.(1411-1413)gtT>gtA	p.V471V		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	471	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCTGTGTTGATAATTTGG	0.388																																						uc003hhb.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1411-1413)GTT>GTA		afamin precursor							172.0	148.0	156.0					4																	74364954		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74364954T>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1413T>A	4.37:g.74364954T>A							p.V471V	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1444	+	Breast(15;0.00102)		471			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.1413T>A	CCDS3557.1																																																																																				0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
KLHL8	57563	broad.mit.edu	37	4	88091238	88091238	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:88091238G>A	ENST00000273963.5	-	8	1871	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	KLHL8_ENST00000512111.1_Silent_p.Y510Y|KLHL8_ENST00000545252.1_Silent_p.Y159Y|KLHL8_ENST00000498875.2_Silent_p.Y434Y|KLHL8_ENST00000425278.2_Silent_p.Y327Y	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	510					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACCAACTACGTATAAGCAAC	0.358																																						uc011cdb.1																			0					0						c.(1528-1530)TAC>TAT		kelch-like 8							111.0	107.0	108.0					4																	88091238		2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88091238G>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1530C>T	4.37:g.88091238G>A						KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	p.Y510Y	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	1915	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	510			Kelch 5.		Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1530C>T	CCDS3617.1																																																																																				0.358	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1		
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:100208729G>A	ENST00000209668.2	-	2	225	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	38					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	ACCTTAATACGAACTTCATGG	0.348																																						uc003hur.1																			0				large_intestine(1)|ovary(1)	2						c.(112-114)CGT>TGT		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						64.0	63.0	63.0					4																	100208729		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208729G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.112C>T	4.37:g.100208729G>A	ENSP00000209668:p.Arg38Cys					uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.R38C|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.R38C	p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	2	183	-			38					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.112C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575783	0.65878	.	.	ENSG00000187758	ENST00000209668	T	0.05199	3.48	4.25	4.25	0.50352	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61192	-0.7112	10	0.72032	D	0.01	-6.389	16.6281	0.84992	0.0:0.0:1.0:0.0	.	38	P07327	ADH1A_HUMAN	C	38	ENSP00000209668:R38C	ENSP00000209668:R38C	R	-	1	0	ADH1A	100427752	1.000000	0.71417	0.991000	0.47740	0.767000	0.43475	5.720000	0.68470	1.880000	0.54463	0.460000	0.39030	CGT		0.348	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667	
DCHS2	54798	broad.mit.edu	37	4	155241881	155241881	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:155241881G>A	ENST00000357232.4	-	14	3304	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1102	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATGGATTCGTGCCAGGGTT	0.453																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(3304-3306)ACG>ATG		dachsous 2 isoform 1							358.0	386.0	377.0					4																	155241881		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241881G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3305C>T	4.37:g.155241881G>A	ENSP00000349768:p.Thr1102Met						p.T1102M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3305	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1102			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3305C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834163	0.16820	.	.	ENSG00000197410	ENST00000357232	T	0.52295	0.67	5.59	-2.19	0.07015	Cadherin (4);Cadherin-like (1);	1.812330	0.02632	N	0.104388	T	0.33585	0.0868	L	0.28649	0.875	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.17440	-1.0369	10	0.38643	T	0.18	.	5.0647	0.14576	0.3616:0.0:0.3583:0.2801	.	1102	Q6V1P9	PCD23_HUMAN	M	1102	ENSP00000349768:T1102M	ENSP00000349768:T1102M	T	-	2	0	DCHS2	155461331	0.000000	0.05858	0.004000	0.12327	0.614000	0.37383	0.106000	0.15354	-0.143000	0.11334	-0.339000	0.08088	ACG		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
TLL1	7092	broad.mit.edu	37	4	166964454	166964454	+	Silent	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:166964454T>C	ENST00000061240.2	+	12	2054	c.1407T>C	c.(1405-1407)aaT>aaC	p.N469N	TLL1_ENST00000507499.1_Silent_p.N469N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	469	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGTAAAAATGAAGGACAGA	0.408																																						uc003irh.1																			0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1405-1407)AAT>AAC		tolloid-like 1 precursor							176.0	165.0	169.0					4																	166964454		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166964454T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1407T>C	4.37:g.166964454T>C						TLL1_uc011cjn.1_Silent_p.N469N|TLL1_uc011cjo.1_Silent_p.N293N	p.N469N	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	12	2054	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	469			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1407T>C	CCDS3811.1																																																																																				0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
GALNT7	51809	broad.mit.edu	37	4	174235303	174235303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:174235303delA	ENST00000265000.4	+	9	1667	c.1584delA	c.(1582-1584)ccafs	p.P529fs		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	529					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCCTTTGCCACCCAAAAATG	0.393																																						uc003isz.3																			0				central_nervous_system(1)	1						c.(1582-1584)CCAfs		polypeptide N-acetylgalactosaminyltransferase 7							101.0	98.0	99.0					4																	174235303		2203	4300	6503	SO:0001589	frameshift_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235303delA	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1584delA	4.37:g.174235303delA	ENSP00000265000:p.Pro529fs					GALNT7_uc011ckb.1_Frame_Shift_Del_p.P305fs	p.P528fs	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1667	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	528			Lumenal (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Frame_Shift_Del	DEL	ENST00000265000.4	37	c.1584delA	CCDS3815.1																																																																																				0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
ANKRD55	79722	broad.mit.edu	37	5	55407551	55407551	+	Missense_Mutation	SNP	G	G	A	rs147414262	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:55407551G>A	ENST00000341048.4	-	10	1175	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R54W|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R299W	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	342										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACGTTGAACCGTCTCTCCTTC	0.512													G|||	4	0.000798722	0.0	0.0	5008	,	,		18418	0.0		0.004	False		,,,				2504	0.0					uc003jqu.2																			0				skin(1)	1						c.(1024-1026)CGG>TGG		ankyrin repeat domain 55 isoform 1		G	TRP/ARG	0,4406		0,0,2203	138.0	135.0	136.0		1024	3.5	0.4	5	dbSNP_134	136	12,8588		0,12,4288	yes	missense	ANKRD55	NM_024669.2	101	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	probably-damaging	342/615	55407551	12,12994	2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407551G>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1024C>T	5.37:g.55407551G>A	ENSP00000342295:p.Arg342Trp					ANKRD55_uc003jqt.2_Missense_Mutation_p.R54W	p.R342W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1176	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	341					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1024C>T	CCDS34161.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	.	18.16	3.561558	0.65538	0.0	0.001395	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.42900	1.21;0.96;1.13	5.49	3.53	0.40419	.	0.369832	0.23779	N	0.044647	T	0.39759	0.1090	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.996;0.999	P;P	0.61722	0.549;0.893	T	0.26643	-1.0097	10	0.72032	D	0.01	.	11.8153	0.52207	0.0:0.1025:0.6867:0.2108	.	342;341	B3KVT8;Q3KP44	.;ANR55_HUMAN	W	342;342;299;54	ENSP00000342295:R342W;ENSP00000424230:R299W;ENSP00000429421:R54W	ENSP00000342295:R342W	R	-	1	2	ANKRD55	55443308	0.001000	0.12720	0.377000	0.26055	0.934000	0.57294	0.417000	0.21214	1.416000	0.47057	0.650000	0.86243	CGG		0.512	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
FBN2	2201	broad.mit.edu	37	5	127729056	127729056	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:127729056A>G	ENST00000508053.1	-	16	2211	c.1237T>C	c.(1237-1239)Tat>Cat	p.Y413H	FBN2_ENST00000508989.1_Missense_Mutation_p.Y380H|FBN2_ENST00000262464.4_Missense_Mutation_p.Y413H			P35556	FBN2_HUMAN	fibrillin 2	413	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTCTGCGATATTCCTCTAGA	0.473																																						uc003kuu.2																			0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1237-1239)TAT>CAT		fibrillin 2 precursor							53.0	50.0	51.0					5																	127729056		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127729056A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1237T>C	5.37:g.127729056A>G	ENSP00000424571:p.Tyr413His					FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	p.Y413H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1676	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	413			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1237T>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446378	0.25987	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94537	-3.45;-3.45;-3.45	4.11	1.74	0.24563	Matrix fibril-associated (2);TGF-beta binding (1);	0.195249	0.34484	N	0.003932	D	0.89283	0.6671	L	0.39514	1.22	0.34982	D	0.754214	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.007	D	0.84474	0.0601	10	0.38643	T	0.18	.	8.0533	0.30591	0.7255:0.0:0.2745:0.0	.	380;413	D6RJI3;P35556	.;FBN2_HUMAN	H	413;413;380	ENSP00000262464:Y413H;ENSP00000424571:Y413H;ENSP00000425596:Y380H	ENSP00000262464:Y413H	Y	-	1	0	FBN2	127756955	0.993000	0.37304	0.768000	0.31515	0.221000	0.24807	2.412000	0.44609	0.387000	0.25024	0.533000	0.62120	TAT		0.473	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
SPOCK1	6695	broad.mit.edu	37	5	136314406	136314406	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:136314406G>A	ENST00000394945.1	-	11	1426	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Silent_p.A419A	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTCTGTCACGGCTCGGGTGT	0.522																																						uc003lbo.2																			0				ovary(1)	1						c.(1255-1257)GCC>GCT		sparc/osteonectin, cwcv and kazal-like domains							248.0	199.0	216.0					5																	136314406		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136314406G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1257C>T	5.37:g.136314406G>A						SPOCK1_uc003lbp.2_Silent_p.A419A	p.A419A	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1448	-			419					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.1257C>T	CCDS4191.1																																																																																				0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
PCDHA2	56146	broad.mit.edu	37	5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T	rs376518025		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140174848C>T	ENST00000526136.1	+	1	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A100V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A100V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542																																						uc003lhd.2																			0				ovary(4)	4						c.(298-300)GCG>GTG		protocadherin alpha 2 isoform 1 precursor							107.0	121.0	117.0					5																	140174848		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140174848C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.299C>T	5.37:g.140174848C>T	ENSP00000431748:p.Ala100Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHA2_uc011czy.1_Missense_Mutation_p.A100V	p.A100V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	405	+			100			Extracellular (Potential).|Cadherin 1.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.299C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.254927	0.22965	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39592	1.07;1.07;1.07	3.98	-1.03	0.10102	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.650048	0.12175	U	0.492616	T	0.24851	0.0603	L	0.35288	1.05	0.09310	N	1	B;B;B	0.33826	0.427;0.293;0.427	B;B;B	0.28011	0.051;0.012;0.085	T	0.09684	-1.0663	10	0.42905	T	0.14	.	5.5556	0.17115	0.0:0.411:0.2253:0.3637	.	100;100;100	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	100	ENSP00000430584:A100V;ENSP00000367372:A100V;ENSP00000431748:A100V	ENSP00000367372:A100V	A	+	2	0	PCDHA2	140155032	0.000000	0.05858	0.958000	0.39756	0.551000	0.35334	-2.232000	0.01205	-0.358000	0.08162	-0.147000	0.13772	GCG		0.542	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHB6	56130	broad.mit.edu	37	5	140531524	140531524	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140531524G>A	ENST00000231136.1	+	1	1686	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	PCDHB6_ENST00000543635.1_Silent_p.P426P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	562					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTGTACCCGCTGCAGAACG	0.726																																						uc003lir.2																			0				skin(1)	1						c.(1684-1686)CCG>CCA		protocadherin beta 6 precursor							23.0	30.0	27.0					5																	140531524		2183	4289	6472	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531524G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1686G>A	5.37:g.140531524G>A						PCDHB6_uc011dah.1_Silent_p.P426P	p.P562P	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1686	+			562			Extracellular (Potential).		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1686G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444541	0.12164	.	.	ENSG00000113211	ENST00000542861	.	.	.	4.19	-1.37	0.09056	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.52510	-0.8566	5	0.87932	D	0	.	0.7677	0.01018	0.2461:0.182:0.3513:0.2206	.	.	.	.	H	347	.	ENSP00000438850:R347H	R	+	2	0	PCDHB6	140511708	0.000000	0.05858	0.995000	0.50966	0.963000	0.63663	-4.893000	0.00173	0.036000	0.15547	-0.222000	0.12452	CGC		0.726	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
UNC5A	90249	broad.mit.edu	37	5	176301280	176301280	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:176301280T>C	ENST00000329542.4	+	8	1365	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	UNC5A_ENST00000261961.3_Missense_Mutation_p.L324P	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	364					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCATCTGCTCACCATCCAG	0.642																																						uc003mey.2																			0				skin(1)	1						c.(1090-1092)CTC>CCC		netrin receptor Unc5h1 precursor							73.0	75.0	74.0					5																	176301280		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301280T>C	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1091T>C	5.37:g.176301280T>C	ENSP00000332737:p.Leu364Pro					UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	p.L364P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1283	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	364			Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1091T>C	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755218	0.69648	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.71222	-0.55;-0.17	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.85387	0.1123	10	0.87932	D	0	-34.7285	15.5642	0.76277	0.0:0.0:0.0:1.0	.	324;364	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	P	364;324	ENSP00000332737:L364P;ENSP00000261961:L324P	ENSP00000261961:L324P	L	+	2	0	UNC5A	176233886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.066000	0.71185	2.095000	0.63458	0.397000	0.26171	CTC		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
GMCL1P1	64396	broad.mit.edu	37	5	177612751	177612751	+	IGR	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:177612751T>C								NHP2 (31783 upstream) : HNRNPAB (18756 downstream)																							GTGACGATTATTTTCAATTCC	0.383																																						uc003mit.1																			0					0						c.(1549-1551)AAT>AGT		SubName: Full=Germ cell-less homolog 1 (Drosophila); SubName: Full=Putative uncharacterized protein FLJ13057;																																				SO:0001628	intergenic_variant	64396							g.chr5:177612751T>C																													5.37:g.177612751T>C							p.N517S	NR_003281						1	1683	-									Missense_Mutation	SNP		37	c.1550A>G																																																																																				0	0.383								
DPCR1	135656	broad.mit.edu	37	6	30919701	30919701	+	Silent	SNP	T	T	C	rs2517449	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:30919701T>C	ENST00000462446.1	+	2	3488	c.3460T>C	c.(3460-3462)Ttg>Ctg	p.L1154L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	311						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGGACCACATTGGCCCATGA	0.473													T|||	1177	0.235024	0.0983	0.2133	5008	,	,		21802	0.2688		0.3579	False		,,,				2504	0.274					uc003nsg.2																			0					0						c.(3460-3462)TTG>CTG		diffuse panbronchiolitis critical region 1		T		623,3783	268.9+/-268.7	42,539,1622	125.0	126.0	126.0		3460	-2.2	0.0	6	dbSNP_100	126	3225,5375	487.8+/-372.2	588,2049,1663	yes	coding-synonymous	DPCR1	NM_080870.3		630,2588,3285	CC,CT,TT		37.5,14.1398,29.5863		1154/1394	30919701	3848,9158	2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919701T>C	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3460T>C	6.37:g.30919701T>C							p.L1154L	NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN			2	3460	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3460T>C	CCDS4692.2																																																																																				0.473	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
SKIV2L	6499	broad.mit.edu	37	6	31936254	31936254	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:31936254G>A	ENST00000375394.2	+	24	3121	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R810Q	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1003					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCGGGCCCGGAAGCTGGAG	0.632																																						uc003nyn.1																			0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3007-3009)CGG>CAG		superkiller viralicidic activity 2-like homolog							32.0	40.0	37.0					6																	31936254		1508	2707	4215	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936254G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3008G>A	6.37:g.31936254G>A	ENSP00000364543:p.Arg1003Gln					SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.2_5'Flank	p.R1003Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			24	3397	+			1003					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3008G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312193	0.40895	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.14	4.27	0.50696	.	0.174489	0.51477	D	0.000087	T	0.21590	0.0520	L	0.44542	1.39	0.44807	D	0.997811	P	0.51351	0.944	B	0.41135	0.348	T	0.02885	-1.1098	10	0.23891	T	0.37	-14.7609	9.3184	0.37948	0.1684:0.0:0.8316:0.0	.	1003	Q15477	SKIV2_HUMAN	Q	1003;845;810	ENSP00000364543:R1003Q;ENSP00000442645:R810Q	ENSP00000364543:R1003Q	R	+	2	0	SKIV2L	32044233	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.305000	0.65750	1.297000	0.44761	0.655000	0.94253	CGG		0.632	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
DNAH8	1769	broad.mit.edu	37	6	38903432	38903432	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:38903432A>G	ENST00000359357.3	+	75	11125	c.10871A>G	c.(10870-10872)gAa>gGa	p.E3624G	DNAH8_ENST00000449981.2_Missense_Mutation_p.E3841G|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3588G|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3624	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATGAAAGAACTTGAAGAT	0.308																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10870-10872)GAA>GGA		dynein, axonemal, heavy polypeptide 8							153.0	171.0	165.0					6																	38903432		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38903432A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10871A>G	6.37:g.38903432A>G	ENSP00000352312:p.Glu3624Gly					DNAH8_uc003oog.1_Missense_Mutation_p.E73G|uc003oof.1_Intron	p.E3624G	NM_001371	NP_001362					75	11471	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10871A>G		.	.	.	.	.	.	.	.	.	.	A	27.0	4.795553	0.90453	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55588	0.51;0.51;0.51	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.77613	-0.2522	10	0.66056	D	0.02	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	3588;3624	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	G	3829;3829;3624;3588	ENSP00000333363:E3829G;ENSP00000352312:E3624G;ENSP00000402294:E3588G	ENSP00000333363:E3829G	E	+	2	0	DNAH8	39011410	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.165000	0.89663	2.289000	0.77006	0.482000	0.46254	GAA		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
PKHD1	5314	broad.mit.edu	37	6	51497434	51497434	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:51497434A>T	ENST00000371117.3	-	65	11869	c.11594T>A	c.(11593-11595)cTg>cAg	p.L3865Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3865					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGAGGACAGGGAAGCAGC	0.478																																						uc003pah.1																			0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11593-11595)CTG>CAG		fibrocystin isoform 1							98.0	92.0	94.0					6																	51497434		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497434A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11594T>A	6.37:g.51497434A>T	ENSP00000360158:p.Leu3865Gln						p.L3865Q	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	11870	-	Lung NSC(77;0.0605)		3865			Helical; (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11594T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148037	0.78001	.	.	ENSG00000170927	ENST00000371117	D	0.90676	-2.71	5.46	5.46	0.80206	.	0.239317	0.28549	N	0.014949	D	0.90854	0.7127	M	0.66939	2.045	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	D	0.91270	0.5043	10	0.51188	T	0.08	.	12.9177	0.58214	1.0:0.0:0.0:0.0	.	3865	P08F94	PKHD1_HUMAN	Q	3865	ENSP00000360158:L3865Q	ENSP00000360158:L3865Q	L	-	2	0	PKHD1	51605393	0.801000	0.28930	0.739000	0.30968	0.834000	0.47266	3.264000	0.51553	2.078000	0.62432	0.528000	0.53228	CTG		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
DLL1	28514	broad.mit.edu	37	6	170592139	170592140	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:170592139_170592140insTC	ENST00000366756.3	-	10	2435_2436	c.2102_2103insGA	c.(2101-2103)gacfs	p.D701fs		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	701					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTACTTGGTGTCTTTTGAAGT	0.485																																						uc003qxm.2																			0				lung(4)|ovary(1)	5						c.(2101-2103)GACfs		delta-like 1 precursor																																				SO:0001589	frameshift_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592139_170592140insTC	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.2101_2102dupGA	6.37:g.170592140_170592141dupTC	ENSP00000355718:p.Asp701fs						p.D701fs	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	10	2572_2573	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	701			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Ins	INS	ENST00000366756.3	37	c.2102_2103insGA	CCDS5313.1																																																																																				0.485	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
ZNF679	168417	broad.mit.edu	37	7	63709526	63709526	+	Silent	SNP	C	C	A	rs191648017	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:63709526C>A	ENST00000421025.1	+	2	300	c.31C>A	c.(31-33)Cga>Aga	p.R11R	ZNF679_ENST00000255746.4_Silent_p.R11R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572													.|||	10	0.00199681	0.0068	0.0014	5008	,	,		19216	0.0		0.0	False		,,,				2504	0.0					uc003tsx.2																			0				skin(1)	1						c.(31-33)CGA>AGA		zinc finger protein 679		C		6,1378		0,6,686	47.0	39.0	42.0		31	0.4	0.0	7		42	1,3181		0,1,1590	no	coding-synonymous	ZNF679	NM_153363.2		0,7,2276	AA,AC,CC		0.0314,0.4335,0.1533		11/412	63709526	7,4559	692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709526C>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.31C>A	7.37:g.63709526C>A							p.R11R	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			2	300	+			11						Silent	SNP	ENST00000421025.1	37	c.31C>A	CCDS47592.1																																																																																				0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363	
GATS	352954	broad.mit.edu	37	7	99821643	99821643	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:99821643G>A	ENST00000436886.2	-	3	521	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	91										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACCACGTTCAGGGCCA	0.622																																						uc003uua.3																			0					0						c.(271-273)AAC>AAT		GATS, stromal antigen 3 opposite strand							59.0	69.0	66.0					7																	99821643		2086	4207	6293	SO:0001819	synonymous_variant	352954							g.chr7:99821643G>A	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.273C>T	7.37:g.99821643G>A						GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	p.N91N	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			3	522	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		91					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	ENST00000436886.2	37	c.273C>T	CCDS43621.1																																																																																				0.622	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831	
LSMEM1	286006	broad.mit.edu	37	7	112129963	112129963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:112129963C>T	ENST00000312849.4	+	4	716	c.355C>T	c.(355-357)Cga>Tga	p.R119*	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Nonsense_Mutation_p.R119*	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	119						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GATCGTAAAGCGACTCAACCA	0.388																																						uc011kmq.1																			0				ovary(1)	1						c.(355-357)CGA>TGA		hypothetical protein LOC286006							165.0	152.0	157.0					7																	112129963		2203	4300	6503	SO:0001587	stop_gained	286006					integral to membrane		g.chr7:112129963C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.355C>T	7.37:g.112129963C>T	ENSP00000323304:p.Arg119*					C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Nonsense_Mutation_p.R119*	p.R119*	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN			4	490	+			119			Potential.		Q49AR6	Nonsense_Mutation	SNP	ENST00000312849.4	37	c.355C>T	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	C	38	6.724806	0.97792	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	5.69	4.79	0.61399	.	0.503387	0.18416	N	0.141914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.909	11.8798	0.52568	0.1744:0.8256:0.0:0.0	.	.	.	.	X	119	.	ENSP00000323304:R119X	R	+	1	2	C7orf53	111917199	0.999000	0.42202	0.850000	0.33497	0.465000	0.32709	0.757000	0.26433	1.356000	0.45884	0.591000	0.81541	CGA		0.388	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597	
PLXNA4	91584	broad.mit.edu	37	7	131817922	131817922	+	Silent	SNP	G	G	A	rs114567124	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:131817922G>A	ENST00000359827.3	-	31	6437	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_ENST00000321063.4_Silent_p.S1825S			Q9HCM2	PLXA4_HUMAN	plexin A4	1825					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18377	0.0		0.0	False		,,,				2504	0.0					uc003vra.3																			0				ovary(1)	1						c.(5473-5475)AGC>AGT		plexin A4 isoform 1																																				SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817922G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5475C>T	7.37:g.131817922G>A						PLXNA4_uc003vqz.3_Silent_p.S110S	p.S1825S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			31	5704	-			1825			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5475C>T	CCDS43646.1																																																																																				0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
SVOPL	136306	broad.mit.edu	37	7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:138305867G>A	ENST00000419765.3	-	13	1310	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M|SVOPL_ENST00000421622.1_Missense_Mutation_p.T306M|SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M|SVOPL_ENST00000463557.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	426						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597																																						uc011kqh.1																			0					0						c.(1276-1278)ACG>ATG		SVOP-like isoform 1							58.0	45.0	50.0					7																	138305867		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305867G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1277C>T	7.37:g.138305867G>A	ENSP00000405482:p.Thr426Met					SVOPL_uc003vue.2_Missense_Mutation_p.T274M	p.T426M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			13	1277	-			426						Missense_Mutation	SNP	ENST00000419765.3	37	c.1277C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	7.070	0.568152	0.13560	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.32	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.899902	0.09868	N	0.745250	T	0.44138	0.1279	N	0.21282	0.65	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.11329	0.003;0.006	T	0.29912	-0.9996	10	0.33141	T	0.24	-3.3998	10.1323	0.42687	0.1524:0.0:0.8476:0.0	.	426;274	Q8N434;Q8N434-2	SVOPL_HUMAN;.	M	274;306;274;426	ENSP00000288513:T274M;ENSP00000412830:T306M;ENSP00000417018:T274M;ENSP00000405482:T426M	ENSP00000288513:T274M	T	-	2	0	SVOPL	137956407	0.103000	0.21917	0.040000	0.18447	0.546000	0.35178	2.773000	0.47686	1.245000	0.43885	0.650000	0.86243	ACG		0.597	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1798-1800)GTG>GAG		B-Raf	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
C7orf33	202865	broad.mit.edu	37	7	148288176	148288176	+	Silent	SNP	C	C	T	rs549712040		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	53								p.G53G(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512																																						uc003wew.2																			1	Substitution - coding silent(1)		prostate(1)	central_nervous_system(1)	1						c.(157-159)GGC>GGT		hypothetical protein LOC202865							100.0	82.0	88.0					7																	148288176		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288176C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.159C>T	7.37:g.148288176C>T							p.G53G	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	520	+	Melanoma(164;0.15)		53						Silent	SNP	ENST00000307003.2	37	c.159C>T	CCDS5890.1																																																																																				0.512	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304	
NPBWR1	2831	broad.mit.edu	37	8	53853296	53853296	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:53853296A>G	ENST00000331251.3	+	1	2306	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	277					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GGCGCTCACCACCGACCTCCC	0.642																																						uc011ldu.1																			0				ovary(2)|breast(1)	3						c.(829-831)ACC>GCC		G protein-coupled receptor 7							57.0	43.0	48.0					8																	53853296		2203	4300	6503	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853296A>G	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.829A>G	8.37:g.53853296A>G	ENSP00000330284:p.Thr277Ala						p.T277A	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	829	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	277			Extracellular (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.829A>G	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	a	13.69	2.311728	0.40895	.	.	ENSG00000183729	ENST00000331251	T	0.71341	-0.56	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.356790	0.22223	N	0.062923	T	0.62696	0.2449	L	0.38175	1.15	0.40599	D	0.98156	B	0.33288	0.406	B	0.40825	0.341	T	0.54840	-0.8233	10	0.15499	T	0.54	.	11.0984	0.48160	0.9269:0.0:0.0731:0.0	.	277	P48145	NPBW1_HUMAN	A	277	ENSP00000330284:T277A	ENSP00000330284:T277A	T	+	1	0	NPBWR1	54015849	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	4.227000	0.58612	0.978000	0.38470	0.454000	0.30748	ACC		0.642	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285	
KCNS2	3788	broad.mit.edu	37	8	99441064	99441064	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:99441064C>A	ENST00000287042.4	+	2	1207	c.857C>A	c.(856-858)aCt>aAt	p.T286N	KCNS2_ENST00000521839.1_Missense_Mutation_p.T286N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	286					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCACACCTACTTTAGCCAAC	0.557																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			0				ovary(1)	1						c.(856-858)ACT>AAT		potassium voltage-gated channel,							145.0	139.0	141.0					8																	99441064		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441064C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.857C>A	8.37:g.99441064C>A	ENSP00000287042:p.Thr286Asn						p.T286N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1207	+	Breast(36;2.4e-06)		286			Extracellular (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.857C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425350	0.25639	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.83	5.83	0.93111	Ion transport (1);	0.293457	0.38381	N	0.001712	D	0.90504	0.7025	N	0.04787	-0.16	0.26089	N	0.980981	P	0.37176	0.586	B	0.34093	0.175	T	0.81695	-0.0816	10	0.26408	T	0.33	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	286	Q9ULS6	KCNS2_HUMAN	N	286	ENSP00000287042:T286N;ENSP00000430712:T286N	ENSP00000287042:T286N	T	+	2	0	KCNS2	99510240	0.999000	0.42202	0.333000	0.25482	0.985000	0.73830	4.692000	0.61746	2.769000	0.95229	0.655000	0.94253	ACT		0.557	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
JAK2	3717	broad.mit.edu	37	9	5073770	5073770	+	Missense_Mutation	SNP	G	G	T	rs77375493		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:5073770G>T	ENST00000381652.3	+	14	2343	c.1849G>T	c.(1849-1851)Gtc>Ttc	p.V617F	JAK2_ENST00000544510.1_Missense_Mutation_p.V468F|JAK2_ENST00000539801.1_Missense_Mutation_p.V617F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	617	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> F (in PV, THCYT3 and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity). {ECO:0000269|PubMed:15781101, ECO:0000269|PubMed:15793561, ECO:0000269|PubMed:15858187, ECO:0000269|PubMed:16247455, ECO:0000269|PubMed:16325696, ECO:0000269|PubMed:16603627}.|V -> I (in THCYT3). {ECO:0000269|PubMed:22397670}.		actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.V617F(29950)|p.V617_C618>FR(2)|p.V617I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGGAGTATGTGTCTGTGGAGA	0.343	V617F(HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2	V617F(HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	29953	Substitution - Missense(29951)|Complex - compound substitution(2)	p.V617F(28228)|p.V617_C618>FR(2)|p.V617I(1)|p.V617V(1)	haematopoietic_and_lymphoid_tissue(29950)|lung(3)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(1849-1851)GTC>TTC		Janus kinase 2		G	PHE/VAL	1,4405	2.1+/-5.4	0,1,2202	93.0	103.0	100.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1849	5.5	1.0	9	dbSNP_131	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense	JAK2	NM_004972.3	50	0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231	probably-damaging	617/1133	5073770	3,13003	2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5073770G>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1849G>T	9.37:g.5073770G>T	ENSP00000371067:p.Val617Phe					JAK2_uc003ziw.2_Missense_Mutation_p.V617F	p.V617F	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	13	1962	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	617		V -> F (in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity).	Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1849G>T	CCDS6457.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	25.0	4.593706	0.86953	2.27E-4	2.33E-4	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83163	-1.69;-1.69;-1.69	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.65320	2	0.80722	D	1	D	0.67145	0.996	D	0.65323	0.934	D	0.90419	0.4415	10	0.87932	D	0	-11.539	19.4075	0.94653	0.0:0.0:1.0:0.0	.	617	O60674	JAK2_HUMAN	F	617;617;468	ENSP00000440387:V617F;ENSP00000371067:V617F;ENSP00000443103:V468F	ENSP00000371067:V617F	V	+	1	0	JAK2	5063770	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.388000	0.97237	2.583000	0.87209	0.591000	0.81541	GTC		0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
FBP1	2203	broad.mit.edu	37	9	97367792	97367792	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:97367792C>A	ENST00000375326.4	-	6	968	c.772G>T	c.(772-774)Gtc>Ttc	p.V258F	FBP1_ENST00000415431.1_Missense_Mutation_p.V258F	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	258					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCTCCGTAGACCAGAGTGCGA	0.512																																					Ovarian(142;590 2466 25593 44496)	uc004auw.3																			0					0						c.(772-774)GTC>TTC		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						92.0	76.0	81.0					9																	97367792		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97367792C>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.772G>T	9.37:g.97367792C>A	ENSP00000364475:p.Val258Phe					FBP1_uc010mrl.2_Missense_Mutation_p.V258F	p.V258F	NM_000507	NP_000498	P09467	F16P1_HUMAN			6	1103	-		Acute lymphoblastic leukemia(62;0.136)	258					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.772G>T	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177556	0.57692	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.75260	-0.92;-0.92	5.75	5.75	0.90469	.	0.051327	0.85682	D	0.000000	D	0.83797	0.5332	M	0.77486	2.375	0.80722	D	1	D	0.58268	0.982	P	0.53809	0.735	D	0.85421	0.1143	10	0.72032	D	0.01	-36.9796	19.9325	0.97124	0.0:1.0:0.0:0.0	.	258	P09467	F16P1_HUMAN	F	258	ENSP00000364475:V258F;ENSP00000408025:V258F	ENSP00000364475:V258F	V	-	1	0	FBP1	96407613	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	3.114000	0.50383	2.703000	0.92315	0.650000	0.86243	GTC		0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507	
LHX2	9355	broad.mit.edu	37	9	126794913	126794913	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:126794913C>T	ENST00000373615.4	+	5	1887	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	383					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCGTCTTAACTTCTGTGCCT	0.592																																						uc004boe.1																			0					0						c.(1147-1149)ACT>ATT		LIM homeobox protein 2							96.0	90.0	92.0					9																	126794913		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794913C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1148C>T	9.37:g.126794913C>T	ENSP00000362717:p.Thr383Ile					LHX2_uc010mwi.1_Missense_Mutation_p.T391I	p.T383I	NM_004789	NP_004780	P50458	LHX2_HUMAN			5	1887	+			383					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1148C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612016	0.66558	.	.	ENSG00000106689	ENST00000373615	D	0.84223	-1.82	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	L	0.29908	0.895	0.44295	D	0.997165	D;D	0.71674	0.996;0.998	P;D	0.80764	0.901;0.994	D	0.88126	0.2835	10	0.49607	T	0.09	.	15.0999	0.72266	0.1426:0.8574:0.0:0.0	.	383;383	B3KNJ5;P50458	.;LHX2_HUMAN	I	383	ENSP00000362717:T383I	ENSP00000362717:T383I	T	+	2	0	LHX2	125834734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.746000	0.68681	1.359000	0.45940	0.561000	0.74099	ACT		0.592	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2		
PNPLA7	375775	broad.mit.edu	37	9	140374853	140374853	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:140374853T>C	ENST00000277531.4	-	22	2602	c.2416A>G	c.(2416-2418)Acg>Gcg	p.T806A	PNPLA7_ENST00000371457.1_Missense_Mutation_p.T412A|PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.T831A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	806					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGTGAGCGTGCCATCTACC	0.662																																						uc004cnf.2																			0				skin(1)	1						c.(2416-2418)ACG>GCG		patatin-like phospholipase domain containing 7							73.0	55.0	61.0					9																	140374853		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374853T>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2416A>G	9.37:g.140374853T>C	ENSP00000277531:p.Thr806Ala					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.T72A|PNPLA7_uc004cne.1_Missense_Mutation_p.T72A|PNPLA7_uc011mfa.1_Missense_Mutation_p.T214A|PNPLA7_uc010ncj.1_Missense_Mutation_p.T831A	p.T806A	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	22	2753	-	all_cancers(76;0.126)		806					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2416A>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	3.619	-0.077991	0.07184	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.92	1.13	0.20643	.	0.173838	0.50627	D	0.000108	T	0.24890	0.0604	L	0.52823	1.66	0.32309	N	0.56399	B;B;B;B	0.22346	0.068;0.057;0.02;0.0	B;B;B;B	0.27796	0.024;0.083;0.024;0.003	T	0.13791	-1.0496	10	0.40728	T	0.16	-16.342	4.8306	0.13437	0.424:0.0786:0.0:0.4973	.	214;831;806;72	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	A	412;214;806;831;806;797	ENSP00000360512:T412A;ENSP00000360501:T214A;ENSP00000277531:T806A;ENSP00000384610:T831A;ENSP00000400582:T797A	ENSP00000277531:T806A	T	-	1	0	PNPLA7	139494674	0.998000	0.40836	0.357000	0.25798	0.060000	0.15804	0.758000	0.26447	-0.052000	0.13311	-0.991000	0.02546	ACG		0.662	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
ARSF	416	broad.mit.edu	37	X	3021841	3021841	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:3021841G>A	ENST00000381127.1	+	9	1362	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ARSF_ENST00000537104.1_Missense_Mutation_p.V381I|ARSF_ENST00000359361.2_Missense_Mutation_p.V381I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	381					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V381I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAATCCGCGTCCCAGGAAT	0.438																																						uc004cre.1																			1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)	2						c.(1141-1143)GTC>ATC		arylsulfatase F precursor							95.0	85.0	88.0					X																	3021841		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021841G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1141G>A	X.37:g.3021841G>A	ENSP00000370519:p.Val381Ile					ARSF_uc004crf.1_Missense_Mutation_p.V381I	p.V381I	NM_004042	NP_004033	P54793	ARSF_HUMAN			9	1362	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	381					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1141G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437101	0.43224	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	3.53	3.53	0.40419	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000001	D	0.98033	0.9352	M	0.85630	2.765	0.48341	D	0.999639	B	0.32425	0.371	D	0.65443	0.935	D	0.97887	1.0295	10	0.44086	T	0.13	.	14.4629	0.67465	0.0:0.0:1.0:0.0	.	381	P54793	ARSF_HUMAN	I	381	ENSP00000370519:V381I;ENSP00000445594:V381I;ENSP00000352319:V381I	ENSP00000352319:V381I	V	+	1	0	ARSF	3031841	1.000000	0.71417	0.016000	0.15963	0.066000	0.16364	7.893000	0.87330	1.374000	0.46228	0.411000	0.27672	GTC		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
BRWD3	254065	broad.mit.edu	37	X	79999713	79999713	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:79999713C>T	ENST00000373275.4	-	8	847	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	211					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGCGTCCATCATCTGTAGCC	0.403																																						uc004edt.2																			0				ovary(4)	4						c.(631-633)GAT>AAT		bromodomain and WD repeat domain containing 3							111.0	100.0	104.0					X																	79999713		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999713C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.631G>A	X.37:g.79999713C>T	ENSP00000362372:p.Asp211Asn					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D40N|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.D211N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	894	-			211			WD 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.631G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460053	0.43736	.	.	ENSG00000165288	ENST00000373275	T	0.17528	2.27	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.152320	0.46442	D	0.000288	T	0.09642	0.0237	N	0.13098	0.295	0.48901	D	0.999729	B	0.14012	0.009	B	0.15052	0.012	T	0.20042	-1.0287	9	.	.	.	-16.3049	11.2012	0.48743	0.0:0.9083:0.0:0.0917	.	211	Q6RI45	BRWD3_HUMAN	N	211	ENSP00000362372:D211N	.	D	-	1	0	BRWD3	79886369	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.928000	0.56506	2.193000	0.70182	0.415000	0.27848	GAT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
FATE1	89885	broad.mit.edu	37	X	150885868	150885868	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:150885868A>T	ENST00000370350.3	+	2	316	c.231A>T	c.(229-231)aaA>aaT	p.K77N		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	77						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCAAGAAAATGGTACTGT	0.562																																						uc004fex.2																			0				ovary(1)	1						c.(229-231)AAA>AAT		fetal and adult testis expressed transcript							93.0	92.0	92.0					X																	150885868		2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150885868A>T	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.231A>T	X.37:g.150885868A>T	ENSP00000359375:p.Lys77Asn						p.K77N	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			2	315	+	Acute lymphoblastic leukemia(192;6.56e-05)		77						Missense_Mutation	SNP	ENST00000370350.3	37	c.231A>T	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362449	0.41902	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.63913	0.3;-0.07	3.73	1.35	0.21983	.	0.000000	0.41712	D	0.000838	T	0.62417	0.2426	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.51466	-0.8702	10	0.62326	D	0.03	.	4.712	0.12877	0.7228:0.0:0.2772:0.0	.	77	Q969F0	FATE1_HUMAN	N	77;69	ENSP00000359375:K77N;ENSP00000400493:K69N	ENSP00000359375:K77N	K	+	3	2	FATE1	150636524	0.278000	0.24230	0.000000	0.03702	0.011000	0.07611	0.463000	0.21972	0.166000	0.19597	0.486000	0.48141	AAA		0.562	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085	
