#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
ARHGEF16	27237	broad.mit.edu	37	1	3389688	3389688	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:3389688G>A	ENST00000378378.4	+	7	1474	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E61K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E69K|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E69K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGTGCTGGTCGAGGACATCAG	0.632																																						uc001akg.3																			0				ovary(1)	1						c.(1069-1071)GAG>AAG		Rho guanine exchange factor 16							136.0	99.0	111.0					1																	3389688		2203	4300	6503	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3389688G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1069G>A	1.37:g.3389688G>A	ENSP00000367629:p.Glu357Lys					ARHGEF16_uc001aki.2_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E61K	p.E357K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	7	1317	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	357			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1069G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258072	0.39896	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.38	2.39	0.29439	Dbl homology (DH) domain (5);	0.397034	0.23382	N	0.048790	T	0.43033	0.1229	L	0.36672	1.1	0.35574	D	0.805743	P;P;P	0.45011	0.661;0.848;0.661	B;B;B	0.40782	0.227;0.34;0.227	T	0.44467	-0.9326	10	0.15066	T	0.55	-36.6254	4.6873	0.12764	0.0929:0.1927:0.5829:0.1315	.	61;61;357	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	K	357;69;69;69;61;61	ENSP00000367629:E357K;ENSP00000367624:E69K;ENSP00000367622:E69K;ENSP00000411936:E69K;ENSP00000390853:E61K;ENSP00000408887:E61K	ENSP00000367622:E69K	E	+	1	0	ARHGEF16	3379548	0.087000	0.21565	1.000000	0.80357	0.966000	0.64601	0.544000	0.23253	2.274000	0.75844	0.561000	0.74099	GAG		0.632	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	
MAST2	23139	broad.mit.edu	37	1	46500629	46500629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:46500629C>T	ENST00000361297.2	+	29	4571	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	MAST2_ENST00000372009.2_Missense_Mutation_p.L1240F	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCACAGCCTTGACCTGCC	0.592																																						uc001cov.2																			0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(4288-4290)CTT>TTT		microtubule associated serine/threonine kinase							48.0	53.0	51.0					1																	46500629		2048	4193	6241	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500629C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4288C>T	1.37:g.46500629C>T	ENSP00000354671:p.Leu1430Phe					MAST2_uc001cow.2_Missense_Mutation_p.L1429F|MAST2_uc001cpa.2_RNA	p.L1430F	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			29	4571	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1430						Missense_Mutation	SNP	ENST00000361297.2	37	c.4288C>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	c	17.84	3.487369	0.63962	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.75704	-0.92;-0.96	4.71	4.71	0.59529	.	0.171581	0.39341	N	0.001397	T	0.77471	0.4135	L	0.32530	0.975	0.33423	D	0.58009	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.976	T	0.82010	-0.0669	10	0.72032	D	0.01	-15.5512	9.3263	0.37995	0.0:0.8692:0.0:0.1308	.	1240;1430	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	F	1430;1240	ENSP00000354671:L1430F;ENSP00000361079:L1240F	ENSP00000354671:L1430F	L	+	1	0	MAST2	46273216	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	1.848000	0.39309	2.602000	0.87976	0.558000	0.71614	CTT		0.592	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
CC2D1B	200014	broad.mit.edu	37	1	52820329	52820329	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:52820329A>G	ENST00000371586.2	-	23	2537	c.2399T>C	c.(2398-2400)cTg>cCg	p.L800P	CC2D1B_ENST00000438831.1_Missense_Mutation_p.L175P|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.L794P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	800						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAGTTTCAGGTGTGCTGT	0.567																																						uc001ctq.1																			0				ovary(2)	2						c.(2398-2400)CTG>CCG		coiled-coil and C2 domain containing 1B							126.0	115.0	119.0					1																	52820329		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52820329A>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2399T>C	1.37:g.52820329A>G	ENSP00000360642:p.Leu800Pro					CC2D1B_uc001ctr.2_Missense_Mutation_p.L340P|CC2D1B_uc001cts.2_Missense_Mutation_p.L485P	p.L800P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			23	2537	-			800					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.2399T>C	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.242843|5.242843	0.95272|0.95272	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831|ENST00000438021;ENST00000450942	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	5.65|5.65	5.65|5.65	0.86999|0.86999	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.081068|.	0.50627|.	D|.	0.000117|.	T|.	0.61961|.	0.2389|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.999;0.998|.	D;D;D|.	0.71184|.	0.915;0.972;0.938|.	T|.	0.58171|.	-0.7683|.	10|.	0.87932|.	D|.	0|.	-2.922|-2.922	16.0399|16.0399	0.80667|0.80667	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	580;794;800|.	Q5T0G1;Q5T0F9-2;Q5T0F9|.	.;.;C2D1B_HUMAN|.	P|R	800;794;708;175|581;714	ENSP00000360642:L800P;ENSP00000284376:L794P;ENSP00000406300:L175P|.	ENSP00000284376:L794P|.	L|X	-|-	2|1	0|0	CC2D1B|CC2D1B	52592917|52592917	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	8.442000|8.442000	0.90317|0.90317	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.567	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
PIAS3	10401	broad.mit.edu	37	1	145584562	145584562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:145584562G>A	ENST00000393045.2	+	12	1619	c.1529G>A	c.(1528-1530)aGt>aAt	p.S510N	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Missense_Mutation_p.S475N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	510					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTCCAGTCTCCCACTA	0.592																																						uc001eoc.1																			0				ovary(1)	1						c.(1528-1530)AGT>AAT		protein inhibitor of activated STAT, 3							144.0	137.0	139.0					1																	145584562		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584562G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1529G>A	1.37:g.145584562G>A	ENSP00000376765:p.Ser510Asn					NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.S179N	p.S510N	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			12	1620	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		510					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1529G>A	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119205	0.56505	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.34667	1.35;1.35	6.05	4.09	0.47781	.	0.144118	0.47455	D	0.000239	T	0.16342	0.0393	L	0.36672	1.1	0.80722	D	1	B	0.27498	0.18	B	0.22152	0.038	T	0.03750	-1.1007	10	0.66056	D	0.02	-1.2114	14.5309	0.67926	0.0:0.2794:0.7206:0.0	.	510	Q9Y6X2	PIAS3_HUMAN	N	510;475	ENSP00000376765:S510N;ENSP00000358304:S475N	ENSP00000358304:S475N	S	+	2	0	PIAS3	144295919	0.441000	0.25626	0.909000	0.35828	0.991000	0.79684	1.406000	0.34646	0.809000	0.34255	0.650000	0.86243	AGT		0.592	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	
FLG	2312	broad.mit.edu	37	1	152286200	152286200	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152286200G>T	ENST00000368799.1	-	3	1197	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	388	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)			GACTGCTGGTGGCCGGATCCA	0.577									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1162-1164)CAC>AAC		filaggrin							254.0	254.0	254.0					1																	152286200		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.chr1:152286200G>T	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.1162C>A	1.37:g.152286200G>T	ENSP00000357789:p.His388Asn					uc001ezv.2_RNA	p.H388N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1198	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		388			Ser-rich.|Filaggrin 2.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1162C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.47	1.359311	0.24598	.	.	ENSG00000143631	ENST00000368799	T	0.04502	3.61	3.99	1.83	0.25207	.	.	.	.	.	T	0.05410	0.0143	L	0.60455	1.87	0.09310	N	1	D	0.71674	0.998	D	0.85130	0.997	T	0.35895	-0.9770	9	0.19147	T	0.46	.	6.1649	0.20384	0.0:0.2096:0.5745:0.2158	.	388	P20930	FILA_HUMAN	N	388	ENSP00000357789:H388N	ENSP00000357789:H388N	H	-	1	0	FLG	150552824	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.708000	0.25719	0.964000	0.38108	0.393000	0.25936	CAC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152323312	152323312	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152323312T>G	ENST00000388718.5	-	3	7022	c.6950A>C	c.(6949-6951)cAg>cCg	p.Q2317P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2317					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAACCTGTCTGTGTGGATTG	0.463																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6949-6951)CAG>CCG		filaggrin family member 2							300.0	275.0	283.0					1																	152323312		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323312T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6950A>C	1.37:g.152323312T>G	ENSP00000373370:p.Gln2317Pro					uc001ezv.2_Intron	p.Q2317P	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2317					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6950A>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	8.416	0.845223	0.16963	.	.	ENSG00000143520	ENST00000388718	T	0.35789	1.29	2.5	-1.66	0.08265	.	.	.	.	.	T	0.23014	0.0556	L	0.53249	1.67	0.09310	N	1	P	0.50156	0.932	P	0.58520	0.84	T	0.08310	-1.0728	9	0.30854	T	0.27	.	3.0083	0.06035	0.0:0.294:0.2346:0.4714	.	2317	Q5D862	FILA2_HUMAN	P	2317	ENSP00000373370:Q2317P	ENSP00000373370:Q2317P	Q	-	2	0	FLG2	150589936	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.261000	0.08694	-0.361000	0.08125	-0.425000	0.05940	CAG		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
LCE3E	353145	broad.mit.edu	37	1	152538509	152538509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152538509C>T	ENST00000368789.1	-	2	231	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	59					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TCGGTGGTGGCGCCTGTGGTG	0.682																																						uc001faa.2																			0				ovary(1)	1						c.(175-177)CGC>CAC		late cornified envelope 3E							41.0	50.0	47.0					1																	152538509		2203	4299	6502	SO:0001583	missense	353145				keratinization			g.chr1:152538509C>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"""Late cornified envelopes"""	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.176G>A	1.37:g.152538509C>T	ENSP00000357778:p.Arg59His						p.R59H	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	232	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		59					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.176G>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582542	0.03827	.	.	ENSG00000185966	ENST00000368789	T	0.05319	3.46	3.54	-5.71	0.02413	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.20764	N	0.999858	B	0.06786	0.001	B	0.04013	0.001	T	0.49579	-0.8925	8	0.87932	D	0	.	6.3859	0.21559	0.0:0.3941:0.1293:0.4766	.	59	Q5T5B0	LCE3E_HUMAN	H	59	ENSP00000357778:R59H	ENSP00000357778:R59H	R	-	2	0	LCE3E	150805133	0.000000	0.05858	0.769000	0.31535	0.007000	0.05969	-3.425000	0.00475	-1.151000	0.02836	-3.072000	0.00067	CGC		0.682	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435	
CD5L	922	broad.mit.edu	37	1	157805716	157805716	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:157805716A>G	ENST00000368174.4	-	3	381	c.285T>C	c.(283-285)agT>agC	p.S95S	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	95	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493																																						uc001frk.3																			0				ovary(1)	1						c.(283-285)AGT>AGC		CD5 molecule-like precursor							241.0	246.0	244.0					1																	157805716		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805716A>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.285T>C	1.37:g.157805716A>G							p.S95S	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	428	-	all_hematologic(112;0.0378)		95			SRCR 1.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.285T>C	CCDS1171.1																																																																																				0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
ZNF124	7678	broad.mit.edu	37	1	247320190	247320190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:247320190C>T	ENST00000543802.2	-	4	823	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF124_ENST00000340684.6_Missense_Mutation_p.C183Y|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGAACTGAGACAACTGAAAGC	0.458																																						uc001ick.2																			0				breast(1)	1						c.(733-735)TGT>TAT		zinc finger protein 124							131.0	129.0	130.0					1																	247320190		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320190C>T	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.734G>A	1.37:g.247320190C>T	ENSP00000440365:p.Cys245Tyr					ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y	p.C245Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	873	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		245			C2H2-type 5.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.734G>A		.	.	.	.	.	.	.	.	.	.	C	0	-2.665111	0.00107	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T	0.02944	4.1	0.864	-0.298	0.12814	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.10809	0.05	0.09310	N	1	B;B	0.18166	0.006;0.026	B;B	0.16289	0.015;0.005	T	0.47129	-0.9141	9	0.02654	T	1	.	2.3501	0.04281	0.0:0.4085:0.3389:0.2526	.	245;183	Q15973;Q15973-4	ZN124_HUMAN;.	Y	206;183;189	ENSP00000340749:C183Y	ENSP00000340749:C183Y	C	-	2	0	ZNF124	245386813	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	-2.289000	0.01149	-0.113000	0.11958	0.467000	0.42956	TGT		0.458	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431	
PGBD2	267002	broad.mit.edu	37	1	249212440	249212440	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:249212440T>A	ENST00000329291.5	+	3	1804	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	PGBD2_ENST00000539153.1_Missense_Mutation_p.W550R|PGBD2_ENST00000355360.4_Missense_Mutation_p.W302R	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	553										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATTGGGCACTGGATTATCCA	0.547																																						uc001ifh.2																			0				ovary(1)	1						c.(1657-1659)TGG>AGG		hypothetical protein LOC267002 isoform a							108.0	110.0	109.0					1																	249212440		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212440T>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1657T>A	1.37:g.249212440T>A	ENSP00000331643:p.Trp553Arg					PGBD2_uc001ifg.2_Missense_Mutation_p.W302R|PGBD2_uc009xhd.2_Missense_Mutation_p.W550R	p.W553R	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1804	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	553					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1657T>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	8.181	0.793761	0.16327	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.83250	-1.7;-1.7;-1.7	3.22	2.05	0.26809	.	0.271194	0.24828	N	0.035271	T	0.78953	0.4365	L	0.34521	1.04	0.26325	N	0.977601	P;D	0.65815	0.867;0.995	P;P	0.56278	0.534;0.795	T	0.67440	-0.5670	10	0.23302	T	0.38	.	6.4255	0.21768	0.0:0.0:0.2531:0.7469	.	550;553	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	R	302;553;550	ENSP00000355424:W302R;ENSP00000331643:W553R;ENSP00000439950:W550R	ENSP00000331643:W553R	W	+	1	0	PGBD2	247179063	0.998000	0.40836	0.537000	0.28052	0.001000	0.01503	1.562000	0.36353	0.586000	0.29626	-0.435000	0.05868	TGG		0.547	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1		
LRIT1	26103	broad.mit.edu	37	10	85992166	85992166	+	Silent	SNP	G	G	A	rs142074653	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:85992166G>A	ENST00000372105.3	-	4	1410	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	463	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)		p.Y463Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAAAGACCGCGTAGAGGACAC	0.582													A|||	13	0.00259585	0.0098	0.0	5008	,	,		21698	0.0		0.0	False		,,,				2504	0.0					uc001kcz.1																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(1387-1389)TAC>TAT		retina specific protein PAL		A		37,4369	822.4+/-416.4	0,37,2166	81.0	60.0	67.0		1389	-6.1	0.0	10	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	LRIT1	NM_015613.2		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		463/624	85992166	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992166G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1389C>T	10.37:g.85992166G>A							p.Y463Y	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1411	-			463			Fibronectin type-III.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1389C>T	CCDS7373.1																																																																																				0.582	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
PTEN	5728	broad.mit.edu	37	10	89692785	89692785	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89692785T>C	ENST00000371953.3	+	5	1626	c.269T>C	c.(268-270)tTt>tCt	p.F90S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	90	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATCCTTTTGAAGACCAT	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	p.F90fs*9(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(268-270)TTT>TCT		phosphatase and tensin homolog							108.0	98.0	102.0					10																	89692785		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692785T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.269T>C	10.37:g.89692785T>C	ENSP00000361021:p.Phe90Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.F90S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1300	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	90			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.269T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464000	0.84425	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98045	1.0384	9	.	.	.	-3.6289	14.8407	0.70220	0.0:0.0:0.0:1.0	.	90	P60484	PTEN_HUMAN	S	90	ENSP00000361021:F90S	.	F	+	2	0	PTEN	89682765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89720847	89720847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89720847delC	ENST00000371953.3	+	8	2355	c.998delC	c.(997-999)gccfs	p.A333fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	333	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGACAAAGCCAACCGATAC	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(997-999)GCCfs		phosphatase and tensin homolog							65.0	68.0	67.0					10																	89720847		2203	4298	6501	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720847delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.998delC	10.37:g.89720847delC	ENSP00000361021:p.Ala333fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A333fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2029	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	333	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.998delC	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SORCS1	114815	broad.mit.edu	37	10	108923743	108923743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:108923743G>C	ENST00000263054.6	-	1	549	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SORCS1_ENST00000344440.6_Missense_Mutation_p.S181C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	181					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGTGGCCAGACCAGTGGAC	0.562																																						uc001kym.2																			0				breast(1)|central_nervous_system(1)	2						c.(541-543)TCT>TGT		SORCS receptor 1 isoform a							68.0	60.0	63.0					10																	108923743		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923743G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.542C>G	10.37:g.108923743G>C	ENSP00000263054:p.Ser181Cys					SORCS1_uc001kyl.2_Missense_Mutation_p.S181C|SORCS1_uc009xxs.2_Missense_Mutation_p.S181C|SORCS1_uc001kyn.1_Missense_Mutation_p.S181C|SORCS1_uc001kyo.2_Missense_Mutation_p.S181C	p.S181C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	550	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	181			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.542C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273480	0.80580	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.23348	1.91;1.91	5.16	5.16	0.70880	.	0.000000	0.45606	D	0.000343	T	0.38825	0.1055	L	0.34521	1.04	0.42398	D	0.992557	D;D;D;D;D	0.76494	0.998;0.999;0.997;0.998;0.997	P;D;D;P;D	0.66497	0.816;0.944;0.912;0.879;0.912	T	0.04255	-1.0965	9	.	.	.	-5.952	17.3761	0.87392	0.0:0.0:1.0:0.0	.	181;181;181;181;181	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	181	ENSP00000263054:S181C;ENSP00000345964:S181C	.	S	-	2	0	SORCS1	108913733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.733000	0.68571	2.666000	0.90696	0.655000	0.94253	TCT		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SMC3	9126	broad.mit.edu	37	10	112344031	112344031	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:112344031G>T	ENST00000361804.4	+	13	1308	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	394					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGGATAAGTGGATTAAAAAGG	0.383																																						uc001kze.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1180-1182)TGG>TGT		structural maintenance of chromosomes 3							119.0	121.0	120.0					10																	112344031		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112344031G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1182G>T	10.37:g.112344031G>T	ENSP00000354720:p.Trp394Cys						p.W394C	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	13	1308	+		Breast(234;0.0848)|Lung NSC(174;0.238)	394			Potential.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1182G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038265	0.75617	.	.	ENSG00000108055	ENST00000361804	T	0.76186	-1.0	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.88882	0.3340	10	0.39692	T	0.17	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	394	Q9UQE7	SMC3_HUMAN	C	394	ENSP00000354720:W394C	ENSP00000354720:W394C	W	+	3	0	SMC3	112334021	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.405000	0.97313	2.725000	0.93324	0.460000	0.39030	TGG		0.383	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
DMBT1	1755	broad.mit.edu	37	10	124399762	124399762	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:124399762C>T	ENST00000338354.3	+	52	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_ENST00000368956.2_Silent_p.D1626D|DMBT1_ENST00000330163.4_Silent_p.D1626D|DMBT1_ENST00000368909.3_Silent_p.D2254D|DMBT1_ENST00000359586.6_Silent_p.D974D|DMBT1_ENST00000344338.3_Silent_p.D2244D|DMBT1_ENST00000368955.3_Silent_p.D2244D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2254	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				central_nervous_system(7)	7						c.(6760-6762)GAC>GAT		deleted in malignant brain tumors 1 isoform b							262.0	246.0	251.0					10																	124399762		2039	4185	6224	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399762C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6762C>T	10.37:g.124399762C>T						DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	p.D2254D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6868	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2254			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6762C>T																																																																																					0.463	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
MUC5B	727897	broad.mit.edu	37	11	1267425	1267425	+	Silent	SNP	C	C	T	rs375109401		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267425C>T	ENST00000529681.1	+	31	9373	c.9315C>T	c.(9313-9315)acC>acT	p.T3105T	MUC5B_ENST00000447027.1_Silent_p.T3108T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3105	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.637																																						uc009ycr.1																			0					0						c.(11062-11064)ACC>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		C		0,4198		0,0,2099	63.0	89.0	80.0		9315	0.6	0.0	11		80	1,8431		0,1,4215	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6314	TT,TC,CC		0.0119,0.0,0.0079		3105/5763	1267425	1,12629	2099	4216	6315	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267425C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9315C>T	11.37:g.1267425C>T						MUC5B_uc001ltb.2_Silent_p.T3108T	p.T3688T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11190	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3105	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11064C>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	broad.mit.edu	37	11	1267929	1267929	+	Silent	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267929T>C	ENST00000529681.1	+	31	9877	c.9819T>C	c.(9817-9819)acT>acC	p.T3273T	MUC5B_ENST00000447027.1_Silent_p.T3276T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3273	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGTCCACACCT	0.642																																						uc009ycr.1																			0					0						c.(11566-11568)ACT>ACC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							100.0	135.0	124.0					11																	1267929		2049	4166	6215	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267929T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9819T>C	11.37:g.1267929T>C						MUC5B_uc001ltb.2_Silent_p.T3276T	p.T3856T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11694	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3273	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11568T>C	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	broad.mit.edu	37	11	1271196	1271196	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1271196C>T	ENST00000529681.1	+	31	13144	c.13086C>T	c.(13084-13086)acC>acT	p.T4362T	MUC5B_ENST00000447027.1_Silent_p.T4365T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4362	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.652																																						uc009ycr.1																			0					0						c.(14503-14505)ACC>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							74.0	96.0	89.0					11																	1271196		2129	4210	6339	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271196C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13086C>T	11.37:g.1271196C>T						MUC5B_uc001ltb.2_Silent_p.T4365T	p.T4835T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14631	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4362			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14505C>T	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
PAMR1	25891	broad.mit.edu	37	11	35454286	35454286	+	Missense_Mutation	SNP	G	G	A	rs554767403		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:35454286G>A	ENST00000378880.2	-	11	2226	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	PAMR1_ENST00000378878.3_Missense_Mutation_p.S483F|PAMR1_ENST00000532848.1_Missense_Mutation_p.S554F|PAMR1_ENST00000278360.3_Missense_Mutation_p.S611F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	594	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTGATGTGGGACTCCTGGAA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		21176	0.0		0.001	False		,,,				2504	0.0					uc001mwg.2																			0				ovary(2)	2						c.(1780-1782)TCC>TTC		regeneration associated muscle protease isoform							72.0	63.0	66.0					11																	35454286		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454286G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1781C>T	11.37:g.35454286G>A	ENSP00000368158:p.Ser594Phe					PAMR1_uc001mwf.2_Missense_Mutation_p.S611F|PAMR1_uc010rew.1_Missense_Mutation_p.S483F|PAMR1_uc010rex.1_Missense_Mutation_p.S554F	p.S594F	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			11	1824	-			594			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1781C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	8.308	0.821534	0.16678	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.47	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.726208	0.14491	N	0.316318	T	0.82259	0.4998	L	0.46741	1.465	0.09310	N	1	B;B;B	0.30763	0.294;0.096;0.001	B;B;B	0.24974	0.057;0.055;0.004	T	0.74290	-0.3713	10	0.87932	D	0	.	4.0122	0.09627	0.2917:0.0:0.5473:0.1611	.	483;594;611	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	F	611;594;483;554;571	ENSP00000278360:S611F;ENSP00000368158:S594F;ENSP00000368156:S483F;ENSP00000433868:S554F;ENSP00000432591:S571F	ENSP00000278360:S611F	S	-	2	0	PAMR1	35410862	0.049000	0.20398	0.158000	0.22627	0.659000	0.38960	2.156000	0.42310	0.686000	0.31488	0.561000	0.74099	TCC		0.607	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
LRP4	4038	broad.mit.edu	37	11	46880763	46880763	+	Missense_Mutation	SNP	C	C	T	rs146864522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:46880763C>T	ENST00000378623.1	-	38	5731	c.5489G>A	c.(5488-5490)cGa>cAa	p.R1830Q	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1830					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCGTGAGCTTCGCAGTTGCTT	0.572																																						uc001ndn.3																			0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(5488-5490)CGA>CAA		low density lipoprotein receptor-related protein		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	112.0	104.0	106.0		5489	6.1	1.0	11	dbSNP_134	106	0,8598		0,0,4299	no	missense	LRP4	NM_002334.3	43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	1830/1906	46880763	1,12999	2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880763C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5489G>A	11.37:g.46880763C>T	ENSP00000367888:p.Arg1830Gln					uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R72Q	p.R1830Q	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5635	-			1830			Cytoplasmic (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.5489G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425188	0.62733	2.27E-4	0.0	ENSG00000134569	ENST00000378623	D	0.90261	-2.64	6.06	6.06	0.98353	.	0.064915	0.64402	D	0.000006	T	0.78916	0.4359	N	0.14661	0.345	0.42444	D	0.992721	P	0.43352	0.804	B	0.23018	0.043	T	0.83247	-0.0055	10	0.72032	D	0.01	.	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	1830	O75096	LRP4_HUMAN	Q	1830	ENSP00000367888:R1830Q	ENSP00000367888:R1830Q	R	-	2	0	LRP4	46837339	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	4.661000	0.61518	2.882000	0.98803	0.655000	0.94253	CGA		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
UNC93B1	81622	broad.mit.edu	37	11	67765211	67765211	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:67765211C>T	ENST00000227471.2	-	7	919	c.840G>A	c.(838-840)ccG>ccA	p.P280P	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	280					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TTCCGCTCCGCGGGAGCGTCC	0.647																																						uc001omw.1																			0					0						c.(838-840)CCG>CCA		unc-93 homolog B1							31.0	40.0	37.0					11																	67765211		2063	4198	6261	SO:0001819	synonymous_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67765211C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.840G>A	11.37:g.67765211C>T							p.P280P	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			7	920	-			280					O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37	c.840G>A																																																																																					0.647	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930	
CNTN5	53942	broad.mit.edu	37	11	100126601	100126601	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:100126601C>A	ENST00000524871.1	+	17	2405	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	CNTN5_ENST00000528682.1_Missense_Mutation_p.N705K|CNTN5_ENST00000527185.1_Missense_Mutation_p.N705K|CNTN5_ENST00000279463.3_Missense_Mutation_p.N705K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.N631K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	705	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCTACAACCTTCAAGCTC	0.507																																						uc001pga.2																			0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2113-2115)AAC>AAA		contactin 5 isoform long							100.0	111.0	107.0					11																	100126601		2011	4184	6195	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126601C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2115C>A	11.37:g.100126601C>A	ENSP00000435637:p.Asn705Lys					CNTN5_uc001pfz.2_Missense_Mutation_p.N705K|CNTN5_uc001pgb.2_Missense_Mutation_p.N631K|CNTN5_uc010ruk.1_5'UTR	p.N705K	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	17	2454	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	705			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2115C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889587	0.72524	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.57	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.040227	0.85682	D	0.000000	T	0.61085	0.2319	L	0.45228	1.405	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62277	-0.6888	10	0.72032	D	0.01	.	8.1975	0.31405	0.0:0.7959:0.0:0.2041	.	631;705	O94779-2;O94779	.;CNTN5_HUMAN	K	705;705;705;631;705	ENSP00000433575:N705K;ENSP00000436185:N705K;ENSP00000435637:N705K;ENSP00000393229:N631K;ENSP00000279463:N705K	ENSP00000279463:N705K	N	+	3	2	CNTN5	99631811	0.992000	0.36948	1.000000	0.80357	0.940000	0.58332	0.689000	0.25437	2.623000	0.88846	0.561000	0.74099	AAC		0.507	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CACNA2D4	93589	broad.mit.edu	37	12	1992139	1992139	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:1992139G>A	ENST00000382722.5	-	13	1741	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A460V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A345V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A396V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A396V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A460V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	460	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGGGTGTCCGCCAGCGTTGA	0.632																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			0				ovary(1)	1						c.(1378-1380)GCG>GTG		voltage-gated calcium channel alpha(2)delta-4							70.0	73.0	72.0					12																	1992139		2120	4232	6352	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992139G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1379C>T	12.37:g.1992139G>A	ENSP00000372169:p.Ala460Val					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V	p.A460V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	13	1610	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	460			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1379C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341466	0.95783	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.13307	2.6	5.28	5.28	0.74379	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	T	0.42224	-0.9464	10	0.72032	D	0.01	.	18.9176	0.92512	0.0:0.0:1.0:0.0	.	460;460	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	396;460;460	ENSP00000372169:A460V	ENSP00000280663:A460V	A	-	2	0	CACNA2D4	1862400	1.000000	0.71417	0.813000	0.32504	0.840000	0.47671	9.476000	0.97823	2.468000	0.83385	0.462000	0.41574	GCG		0.632	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
PTPRO	5800	broad.mit.edu	37	12	15654855	15654855	+	Silent	SNP	C	C	T	rs199991892		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:15654855C>T	ENST00000281171.4	+	5	1293	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PTPRO_ENST00000348962.2_Silent_p.Y321Y|PTPRO_ENST00000543886.1_Silent_p.Y321Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	321					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448																																						uc001rcv.1																			0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(961-963)TAC>TAT		receptor-type protein tyrosine phosphatase O							85.0	70.0	75.0					12																	15654855		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654855C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.963C>T	12.37:g.15654855C>T						PTPRO_uc001rcw.1_Silent_p.Y321Y|PTPRO_uc001rcu.1_Silent_p.Y321Y	p.Y321Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	1137	+		Hepatocellular(102;0.244)	321			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.963C>T	CCDS8675.1																																																																																				0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
KMT2D	8085	broad.mit.edu	37	12	49416373	49416373	+	Splice_Site	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49416373C>G	ENST00000301067.7	-	51	16337	c.16338G>C	c.(16336-16338)caG>caC	p.Q5446H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5446	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGCTCATACCTGCTCTTCGT	0.542																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16336-16338)CAG>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							162.0	164.0	163.0					12																	49416373		2021	4186	6207	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416373C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1G>C	12.37:g.49416373C>G		HNSCC(34;0.089)					p.Q5446H	NM_003482	NP_003473	O14686	MLL2_HUMAN			51	16338	-			5446			SET.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16338G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663388	0.29515	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.82255	-1.59;-1.59	5.06	5.06	0.68205	SET domain (3);	0.000000	0.33457	N	0.004892	D	0.88647	0.6493	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87585	0.2487	9	.	.	.	.	17.5657	0.87919	0.0:1.0:0.0:0.0	.	5446	O14686	MLL2_HUMAN	H	5446;127	ENSP00000301067:Q5446H;ENSP00000435714:Q127H	.	Q	-	3	2	MLL2	47702640	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.694000	0.68272	2.522000	0.85027	0.591000	0.81541	CAG		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation
KMT2D	8085	broad.mit.edu	37	12	49432216	49432216	+	Missense_Mutation	SNP	G	G	A	rs544530436		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49432216G>A	ENST00000301067.7	-	34	8922	c.8923C>T	c.(8923-8925)Cgc>Tgc	p.R2975C	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2975	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGATTGGGGCGGCCAAGCTCA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		16524	0.001		0.0	False		,,,				2504	0.0					uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(8923-8925)CGC>TGC		myeloid/lymphoid or mixed-lineage leukemia 2							64.0	68.0	67.0					12																	49432216		1960	4137	6097	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49432216G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8923C>T	12.37:g.49432216G>A	ENSP00000301067:p.Arg2975Cys	HNSCC(34;0.089)					p.R2975C	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	8923	-			2975			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8923C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530318	0.27387	.	.	ENSG00000167548	ENST00000301067	T	0.79554	-1.28	5.73	5.73	0.89815	.	0.000000	0.38837	N	0.001560	T	0.80065	0.4555	N	0.14661	0.345	0.43708	D	0.996178	D	0.89917	1.0	P	0.59221	0.854	T	0.83125	-0.0116	10	0.87932	D	0	.	17.2028	0.86910	0.0:0.0:1.0:0.0	.	2975	O14686	MLL2_HUMAN	C	2975	ENSP00000301067:R2975C	ENSP00000301067:R2975C	R	-	1	0	MLL2	47718483	0.074000	0.21230	1.000000	0.80357	0.964000	0.63967	0.986000	0.29590	2.882000	0.98803	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KCNH3	23416	broad.mit.edu	37	12	49935518	49935518	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49935518G>A	ENST00000257981.6	+	3	676	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	139	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAAGAACCGAGGGGGCCCC	0.592																																						uc001ruh.1																			0					0						c.(415-417)CGA>CAA		potassium voltage-gated channel, subfamily H							130.0	147.0	142.0					12																	49935518		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49935518G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.416G>A	12.37:g.49935518G>A	ENSP00000257981:p.Arg139Gln					KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	p.R139Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			3	676	+			139			PAC.|Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.416G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656684	0.67586	.	.	ENSG00000135519	ENST00000257981	D	0.98684	-5.07	5.1	5.1	0.69264	PAS-associated, C-terminal (1);	0.000000	0.36234	N	0.002709	D	0.96722	0.8930	L	0.49350	1.555	0.35872	D	0.828292	P	0.45011	0.848	B	0.37692	0.256	D	0.98272	1.0504	10	0.28530	T	0.3	.	16.4123	0.83722	0.0:0.0:1.0:0.0	.	139	Q9ULD8	KCNH3_HUMAN	Q	139	ENSP00000257981:R139Q	ENSP00000257981:R139Q	R	+	2	0	KCNH3	48221785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.008000	0.57103	2.825000	0.97269	0.655000	0.94253	CGA		0.592	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	
CRADD	8738	broad.mit.edu	37	12	94243772	94243772	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:94243772C>A	ENST00000542893.2	+	3	643	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.H109N			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GATCCCCTCGCACATCCTCAA	0.562																																						uc001tda.2																			0				ovary(1)	1						c.(325-327)CAC>AAC		CASP2 and RIPK1 domain containing adaptor with							62.0	63.0	62.0					12																	94243772		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243772C>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.325C>A	12.37:g.94243772C>A	ENSP00000439068:p.His109Asn					CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	p.H109N	NM_003805	NP_003796	P78560	CRADD_HUMAN			3	429	+			109					B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.325C>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590693	0.13812	.	.	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.93426	-3.22;-3.22	5.86	4.97	0.65823	Death (1);DEATH-like (1);	0.610166	0.18862	N	0.129090	D	0.87787	0.6265	L	0.54323	1.7	0.18873	N	0.999981	P	0.34462	0.454	B	0.26614	0.071	T	0.76176	-0.3055	10	0.15952	T	0.53	-30.7888	6.6342	0.22874	0.146:0.6975:0.0:0.1565	.	109	P78560	CRADD_HUMAN	N	109	ENSP00000327647:H109N;ENSP00000439068:H109N	ENSP00000327647:H109N	H	+	1	0	CRADD	92767903	0.009000	0.17119	0.016000	0.15963	0.018000	0.09664	1.143000	0.31553	1.471000	0.48121	0.563000	0.77884	CAC		0.562	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805	
CUX2	23316	broad.mit.edu	37	12	111748245	111748245	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:111748245G>A	ENST00000261726.6	+	15	1813	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	553					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGCAGCTGGACACGGCAG	0.701																																						uc001tsa.1																			0				ovary(3)|skin(2)|breast(1)	6						c.(1657-1659)CTG>CTA		cut-like 2							31.0	36.0	35.0					12																	111748245		2087	4211	6298	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748245G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1659G>A	12.37:g.111748245G>A							p.L553L	NM_015267	NP_056082	O14529	CUX2_HUMAN			15	1812	+			553			CUT 1.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1659G>A	CCDS41837.1																																																																																				0.701	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T	rs549833008		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000376682.4_Silent_p.T59T|GPR133_ENST00000535015.1_Silent_p.T405T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.0		0.001	False		,,,				2504	0.0					uc001uit.3																			0				pancreas(5)|ovary(3)|skin(2)	10						c.(1117-1119)ACC>ACT		G protein-coupled receptor 133 precursor							91.0	76.0	81.0					12																	131487822		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487822C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1119C>T	12.37:g.131487822C>T						GPR133_uc010tbm.1_Silent_p.T405T	p.T373T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1678	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		373			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1119C>T	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	rs538397448		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0.0	0.0	5008	,	,		18530	0.001		0.0	False		,,,				2504	0.0					uc001umd.2																			0					0						c.(529-531)CGA>TGA		TPTE and PTEN homologous inositol lipid							35.0	34.0	34.0					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
SPERT	220082	broad.mit.edu	37	13	46287387	46287387	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:46287387C>T	ENST00000310521.1	+	3	307	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SPERT_ENST00000378966.3_Missense_Mutation_p.A40V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	76						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CAGCAGGCCGCCCTGCCCCGG	0.662																																						uc001van.1																			0				central_nervous_system(1)|pancreas(1)	2						c.(226-228)GCC>GTC		spermatid associated							33.0	34.0	34.0					13																	46287387		2202	4298	6500	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287387C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.227C>T	13.37:g.46287387C>T	ENSP00000309189:p.Ala76Val					SPERT_uc001vao.2_Missense_Mutation_p.A40V	p.A76V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	307	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	76					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.227C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512227	0.44660	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.47177	0.85;0.86	5.04	4.2	0.49525	.	0.302095	0.24024	N	0.042254	T	0.33440	0.0863	N	0.22421	0.69	0.31299	N	0.688557	P;P	0.45531	0.705;0.86	B;B	0.41412	0.272;0.356	T	0.41734	-0.9492	10	0.56958	D	0.05	.	9.2291	0.37425	0.0:0.9027:0.0:0.0973	.	40;76	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	76;49;40	ENSP00000309189:A76V;ENSP00000368249:A40V	ENSP00000309189:A76V	A	+	2	0	SPERT	45185388	0.053000	0.20554	0.997000	0.53966	0.535000	0.34838	1.001000	0.29783	1.358000	0.45922	0.603000	0.83216	GCC		0.662	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	IGR	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:75814354C>G								AL162571.1 (31181 upstream) : LINC01078 (10261 downstream)																							CCACCAGTTCCCATGGAAAAC	0.488																																						uc010ths.1																			0					0						c.(121-123)TGG>TGC		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814354C>G																													13.37:g.75814354C>G							p.W41C	NR_027466						1	164	-									Missense_Mutation	SNP		37	c.123G>C																																																																																				0	0.488								
STRN3	29966	broad.mit.edu	37	14	31425409	31425409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:31425409C>A	ENST00000357479.5	-	2	518	c.322G>T	c.(322-324)Gag>Tag	p.E108*	STRN3_ENST00000355683.5_Nonsense_Mutation_p.E108*	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	108					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTCAGGTTCTCTTGACCTTTT	0.328																																						uc001wqu.2																			0					0						c.(322-324)GAG>TAG		nuclear autoantigen isoform 1							167.0	145.0	152.0					14																	31425409		2203	4299	6502	SO:0001587	stop_gained	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31425409C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.322G>T	14.37:g.31425409C>A	ENSP00000350071:p.Glu108*					STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_RNA	p.E108*	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	2	538	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		108			Potential.		A2RTX7|A6NHZ7|Q9NRA5	Nonsense_Mutation	SNP	ENST00000357479.5	37	c.322G>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	c	37	6.577754	0.97680	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.4524	19.2538	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000347909:E108X	E	-	1	0	STRN3	30495160	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.653000	0.83643	2.617000	0.88574	0.561000	0.74099	GAG		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574	
MAX	4149	broad.mit.edu	37	14	65543330	65543330	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:65543330G>A	ENST00000358664.4	-	5	477	c.347C>T	c.(346-348)cCc>cTc	p.P116L	MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Missense_Mutation_p.P80L|MAX_ENST00000358402.4_Missense_Mutation_p.P107L|MAX_ENST00000557277.1_Missense_Mutation_p.P53L|MAX_ENST00000555932.1_Missense_Mutation_p.P30S	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	116					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCTGAGGAGGGGTAGTTGGT	0.587																																						uc001xif.1																			0				lung(1)	1						c.(346-348)CCC>CTC		MAX protein isoform a							208.0	192.0	197.0					14																	65543330		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65543330G>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.347C>T	14.37:g.65543330G>A	ENSP00000351490:p.Pro116Leu					MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Missense_Mutation_p.P30S|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_RNA	p.P116L	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	5	517	-			116					A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.347C>T	CCDS9771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.457300|2.457300	0.43634|0.43634	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000358402;ENST00000358664;ENST00000555419;ENST00000557277;ENST00000556892|ENST00000555932	D;D;D;D;D|.	0.97352|.	-4.35;-4.32;-3.48;-1.73;-2.11|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.493257|0.493257	0.24693|0.24693	N|N	0.036366|0.036366	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.02656|0.13145	0.0;0.0|0.007	B;B|B	0.01281|0.13407	0.0;0.0|0.009	T|T	0.15492|0.15492	-1.0435|-1.0435	10|8	0.34782|.	T|.	0.22|.	-6.1467|-6.1467	13.7286|13.7286	0.62774|0.62774	0.0:0.0:0.8455:0.1545|0.0:0.0:0.8455:0.1545	.|.	107;116|30	P61244-2;P61244|G3V2N4	.;MAX_HUMAN|.	L|S	107;116;80;53;43|30	ENSP00000351175:P107L;ENSP00000351490:P116L;ENSP00000452405:P80L;ENSP00000450955:P53L;ENSP00000452206:P43L|.	ENSP00000351175:P107L|.	P|P	-|-	2|1	0|0	MAX|MAX	64613083|64613083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.006000|6.006000	0.70724|0.70724	1.498000|1.498000	0.48600|0.48600	-0.282000|-0.282000	0.10007|0.10007	CCC|CCT		0.587	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	
OR4N3P	390539	broad.mit.edu	37	15	22414006	22414006	+	IGR	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:22414006G>A								RP11-69H14.6 (30198 upstream) : RP11-2F9.4 (19883 downstream)																							TGTGATGTCCGACAGGTCATC	0.512																																						uc001yuf.2																			0					0						c.(304-306)CGA>CAA		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414006G>A																													15.37:g.22414006G>A							p.R102Q	NM_001080841	NP_001074310					1	305	+									Missense_Mutation	SNP		37	c.305G>A																																																																																				0	0.512								
PIF1	80119	broad.mit.edu	37	15	65114493	65114493	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:65114493G>A	ENST00000268043.4	-	4	883	c.789C>T	c.(787-789)atC>atT	p.I263I	PIF1_ENST00000333425.6_Silent_p.I263I|PIF1_ENST00000559239.1_Silent_p.I263I					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TGGTGCCCCCGATGTGGCAGG	0.612																																						uc002ant.2																			0					0						c.(787-789)ATC>ATT		DNA helicase homolog PIF1							50.0	56.0	54.0					15																	65114493		2202	4299	6501	SO:0001819	synonymous_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114493G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.789C>T	15.37:g.65114493G>A						PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.2_3'UTR	p.I263I	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			4	855	-			263			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Silent	SNP	ENST00000268043.4	37	c.789C>T	CCDS10195.2																																																																																				0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049	
PPL	5493	broad.mit.edu	37	16	4937215	4937215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:4937215G>A	ENST00000345988.2	-	21	2617	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	PPL_ENST00000590782.2_Missense_Mutation_p.A841V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	843					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A843V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAACTTGGCGGCAAGTGCTGC	0.483																																						uc002cyd.1																			1	Substitution - Missense(1)		prostate(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2527-2529)GCC>GTC		periplakin							137.0	136.0	136.0					16																	4937215		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4937215G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2528C>T	16.37:g.4937215G>A	ENSP00000340510:p.Ala843Val						p.A843V	NM_002705	NP_002696	O60437	PEPL_HUMAN			21	2618	-			843			Spectrin 4.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2528C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468408	0.43839	.	.	ENSG00000118898	ENST00000345988	T	0.49432	0.78	5.53	4.57	0.56435	.	0.277276	0.34777	N	0.003682	T	0.45115	0.1326	L	0.60455	1.87	0.34326	D	0.687103	B	0.13594	0.008	B	0.09377	0.004	T	0.54248	-0.8322	10	0.36615	T	0.2	.	14.4864	0.67619	0.0708:0.0:0.9292:0.0	.	843	O60437	PEPL_HUMAN	V	843	ENSP00000340510:A843V	ENSP00000340510:A843V	A	-	2	0	PPL	4877216	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.409000	0.52657	1.346000	0.45694	0.655000	0.94253	GCC		0.483	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
GLG1	2734	broad.mit.edu	37	16	74542799	74542799	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:74542799G>C	ENST00000422840.2	-	3	495	c.496C>G	c.(496-498)Cta>Gta	p.L166V	GLG1_ENST00000447066.2_Missense_Mutation_p.L155V|GLG1_ENST00000205061.5_Missense_Mutation_p.L166V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	166					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGTAGTTAGGTTCAGCTTA	0.328																																						uc002fcy.3																			0				ovary(1)|breast(1)	2						c.(496-498)CTA>GTA		golgi apparatus protein 1 isoform 3							89.0	92.0	91.0					16																	74542799		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74542799G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.496C>G	16.37:g.74542799G>C	ENSP00000405984:p.Leu166Val					GLG1_uc002fcx.2_Missense_Mutation_p.L166V|GLG1_uc002fcw.3_Missense_Mutation_p.L155V|GLG1_uc002fcz.3_5'UTR	p.L166V	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			3	546	-			166			Cys-rich GLG1 2.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.496C>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304181	0.60305	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.64	4.69	0.59074	.	0.000000	0.64402	D	0.000005	T	0.69287	0.3094	L	0.51422	1.61	0.80722	D	1	P;D;D	0.69078	0.843;0.988;0.997	B;P;D	0.79108	0.336;0.79;0.992	T	0.67821	-0.5571	9	0.35671	T	0.21	-5.1797	14.3356	0.66586	0.071:0.0:0.929:0.0	.	166;166;155	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	V	166;155;166	.	ENSP00000205061:L166V	L	-	1	2	GLG1	73100300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.189000	0.72051	1.390000	0.46547	0.651000	0.88453	CTA		0.328	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
CBFA2T3	863	broad.mit.edu	37	16	88945844	88945844	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:88945844C>T	ENST00000268679.4	-	11	1892	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R461Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R413Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R413Q|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R423Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	499	Mediates interaction with PRKAR2A.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CATGGCCTGCCGCTTCACCTC	0.647			T	RUNX1	AML																																	uc002fmm.1				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(1495-1497)CGG>CAG		myeloid translocation gene on chromosome 16							68.0	56.0	60.0					16																	88945844		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945844C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1496G>A	16.37:g.88945844C>T	ENSP00000268679:p.Arg499Gln					CBFA2T3_uc002fml.1_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.1_5'UTR	p.R499Q	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	1682	-			499			Mediates interaction with PRKAR2A.|Potential.		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1496G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791630	0.90367	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.7	3.75	0.43078	.	0.000000	0.64402	D	0.000001	T	0.69611	0.3130	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.946;0.984	T	0.74565	-0.3623	10	0.72032	D	0.01	-9.3027	12.733	0.57208	0.0:0.9196:0.0:0.0804	.	499;413	O75081;O75081-2	MTG16_HUMAN;.	Q	413;499;461;423;413	ENSP00000332122:R413Q;ENSP00000268679:R499Q;ENSP00000395739:R461Q;ENSP00000401254:R423Q;ENSP00000353449:R413Q	ENSP00000268679:R499Q	R	-	2	0	CBFA2T3	87473345	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	7.536000	0.82023	0.966000	0.38159	0.462000	0.41574	CGG		0.647	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	
P2RX5	5026	broad.mit.edu	37	17	3582918	3582918	+	Missense_Mutation	SNP	C	C	T	rs373920522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:3582918C>T	ENST00000225328.5	-	11	1623	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	P2RX5_ENST00000552050.1_Missense_Mutation_p.G349R|P2RX5_ENST00000547178.1_Missense_Mutation_p.G408R|P2RX5_ENST00000345901.3_Missense_Mutation_p.G385R|P2RX5_ENST00000552276.1_Missense_Mutation_p.G408R|P2RX5_ENST00000435558.1_Missense_Mutation_p.G409R|P2RX5_ENST00000551178.1_Missense_Mutation_p.G384R|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.G409R	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	409					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CACACAGATCCGTTCCCCTTC	0.672																																						uc002fwi.2																			0					0						c.(1225-1227)GGA>AGA		purinergic receptor P2X5 isoform A		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	84.0	60.0	68.0		1150,1225,1153,1222	-1.2	0.3	17		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	P2RX5	NM_175080.2,NM_002561.3,NM_001204520.1,NM_001204519.1	125,125,125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	384/398,409/423,385/399,408/422	3582918	2,13004	2203	4300	6503	SO:0001583	missense	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3582918C>T	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.1225G>A	17.37:g.3582918C>T	ENSP00000225328:p.Gly409Arg					P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G408R|P2RX5_uc010vrx.1_Missense_Mutation_p.G349R|P2RX5_uc002fwj.2_Missense_Mutation_p.G384R|P2RX5_uc002fwk.2_Missense_Mutation_p.G408R|P2RX5_uc002fwl.2_Missense_Mutation_p.G385R	p.G409R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			11	1509	-			409			Cytoplasmic (Potential).		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.1225G>A	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.948185|2.948185	0.53186|0.53186	0.0|0.0	2.33E-4|2.33E-4	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.12774|.	2.94;2.98;2.94;2.93;2.98;2.65|.	3.53|3.53	-1.23|-1.23	0.09465|0.09465	.|.	23.602600|.	0.00508|.	U|.	0.000174|.	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.28082|.	0.127;0.2;0.2;0.2;0.127;0.2|.	B;B;B;B;B;B|.	0.19391|.	0.008;0.025;0.025;0.025;0.011;0.025|.	T|T	0.29088|0.29088	-1.0023|-1.0023	10|5	0.72032|.	D|.	0.01|.	-8.6578|-8.6578	4.9422|4.9422	0.13971|0.13971	0.0:0.5275:0.1595:0.313|0.0:0.5275:0.1595:0.313	.|.	349;385;408;384;409;409|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	R|Q	409;384;408;409;385;349|282	ENSP00000415370:G409R;ENSP00000447545:G384R;ENSP00000448355:G408R;ENSP00000225328:G409R;ENSP00000342161:G385R;ENSP00000450006:G349R|.	ENSP00000225328:G409R|.	G|R	-|-	1|2	0|0	P2RX5|P2RX5	3529667|3529667	0.000000|0.000000	0.05858|0.05858	0.276000|0.276000	0.24689|0.24689	0.009000|0.009000	0.06853|0.06853	-0.263000|-0.263000	0.08670|0.08670	0.035000|0.035000	0.15519|0.15519	-0.432000|-0.432000	0.05891|0.05891	GGA|CGG		0.672	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081	
RABEP1	9135	broad.mit.edu	37	17	5238607	5238607	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:5238607G>A	ENST00000546142.2	+	4	683	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RABEP1_ENST00000537505.1_Missense_Mutation_p.E123K|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000341923.6_Missense_Mutation_p.E166K|RABEP1_ENST00000408982.2_Missense_Mutation_p.E166K|RABEP1_ENST00000262477.6_Missense_Mutation_p.E166K			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	166					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAAGGTCAAGAGGAGGAAAA	0.383																																						uc002gbm.3																			0				large_intestine(1)|ovary(1)	2						c.(496-498)GAG>AAG		rabaptin, RAB GTPase binding effector protein 1							62.0	59.0	60.0					17																	5238607		1836	4091	5927	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5238607G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.496G>A	17.37:g.5238607G>A	ENSP00000437701:p.Glu166Lys					RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.3_Missense_Mutation_p.E166K|RABEP1_uc002gbj.2_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	p.E166K	NM_004703	NP_004694	Q15276	RABE1_HUMAN			4	720	+			166			Potential.		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.496G>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456058	0.84209	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.49720	0.77;0.78;0.77;0.78;0.82	6.03	5.03	0.67393	Rabaptin coiled-coil domain (1);	0.097040	0.64402	D	0.000001	T	0.44265	0.1285	L	0.47716	1.5	0.51233	D	0.999915	P;P;P;P;P;P	0.46859	0.86;0.885;0.885;0.885;0.86;0.86	B;P;P;P;B;B	0.45538	0.352;0.484;0.484;0.484;0.352;0.352	T	0.14504	-1.0470	10	0.13470	T	0.59	-17.1873	14.9204	0.70832	0.0:0.2661:0.7339:0.0	.	123;123;166;166;166;166	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	K	166;166;166;166;166;123	ENSP00000262477:E166K;ENSP00000386150:E166K;ENSP00000437701:E166K;ENSP00000339569:E166K;ENSP00000445408:E123K	ENSP00000262477:E166K	E	+	1	0	RABEP1	5179331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.476000	0.60216	2.854000	0.98071	0.655000	0.94253	GAG		0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(535-537)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PEX12	5193	broad.mit.edu	37	17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:33904306G>C	ENST00000225873.4	-	2	1038	c.431C>G	c.(430-432)tCt>tGt	p.S144C	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	144					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.S144C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453																																						uc002hjp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)TCT>TGT		peroxisomal biogenesis factor 12							71.0	77.0	75.0					17																	33904306		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904306G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.431C>G	17.37:g.33904306G>C	ENSP00000225873:p.Ser144Cys						p.S144C	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1047	-			144			Cytoplasmic (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.431C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601682	0.87055	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.83506	-1.73	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91195	0.4987	10	0.66056	D	0.02	-16.9411	18.3052	0.90177	0.0:0.0:1.0:0.0	.	144	O00623	PEX12_HUMAN	C	144	ENSP00000225873:S144C	ENSP00000225873:S144C	S	-	2	0	PEX12	30928419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.991000	0.93514	2.568000	0.86640	0.650000	0.86243	TCT		0.453	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						uc002hvz.2																			5	Substitution - Missense(5)		lung(2)|prostate(1)|kidney(1)|skin(1)		0						c.(361-363)AGA>AAA		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	401	-		Breast(137;0.000496)	121			20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRT38	8687	broad.mit.edu	37	17	39593757	39593757	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39593757G>A	ENST00000246646.3	-	7	1277	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	426	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCAGTCACGCAGGAGGGAG	0.617																																						uc002hwq.1																			0				skin(2)	2						c.(1276-1278)TGC>TGT		keratin 38							34.0	30.0	31.0					17																	39593757		2203	4299	6502	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39593757G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1278C>T	17.37:g.39593757G>A							p.C426C	NM_006771	NP_006762	O76015	KRT38_HUMAN			7	1701	-		Breast(137;0.000496)	426			Tail.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.1278C>T	CCDS11392.1																																																																																				0.617	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
LRRC37A2	474170	broad.mit.edu	37	17	44594545	44594545	+	Intron	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:44594545C>T	ENST00000576629.1	+	3	3104				LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000329240.4_Missense_Mutation_p.G105D|ARL17A_ENST00000337845.7_Missense_Mutation_p.A194T|ARL17A_ENST00000445552.2_Missense_Mutation_p.G105D			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATCATTTGTGCCGGTGACCCC	0.403																																						uc002iko.3																			0					0						c.(313-315)GGC>GAC		hypothetical protein LOC51326 isoform b																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594545C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-183C>T	17.37:g.44594545C>T						LRRC37A2_uc002ikn.1_Intron	p.G105D	NM_016632	NP_057716	Q8IVW1	ARL17_HUMAN			4	453	-			Error:Variant_position_missing_in_Q8IVW1_after_alignment					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.314G>A	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.11|12.11	1.839813|1.839813	0.32513|0.32513	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000337845|ENST00000445552;ENST00000329240	T|T;T	0.62941|0.69806	-0.01|-0.43;-0.43	2.51|2.51	2.51|2.51	0.30379|0.30379	.|.	.|.	.|.	.|.	.|.	T|T	0.41190|0.41190	0.1148|0.1148	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27872|0.27872	-1.0061|-1.0061	7|7	0.87932|0.02654	D|T	0|1	.|.	8.7154|8.7154	0.34408|0.34408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|D	194|105	ENSP00000338611:A194T|ENSP00000416535:G105D;ENSP00000331563:G105D	ENSP00000338611:A194T|ENSP00000331563:G105D	A|G	-|-	1|2	0|0	ARL17A|ARL17A	41949861|41949861	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.035000|0.035000	0.12851|0.12851	0.453000|0.453000	0.21811|0.21811	1.755000|1.755000	0.51935|0.51935	0.175000|0.175000	0.17021|0.17021	GCA|GGC		0.403	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607	
CCBE1	147372	broad.mit.edu	37	18	57106776	57106776	+	Splice_Site	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:57106776T>G	ENST00000439986.4	-	9	987	c.950A>C	c.(949-951)aAg>aCg	p.K317T	CCBE1_ENST00000398179.2_Splice_Site_p.K46T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	317	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAGGCTTACCTTAGAACCATC	0.423																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2																			0				skin(2)|ovary(1)	3						c.(949-951)AAG>ACG		collagen and calcium binding EGF domains 1							179.0	181.0	181.0					18																	57106776		2203	4300	6503	SO:0001630	splice_region_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57106776T>G	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.951+1A>C	18.37:g.57106776T>G						CCBE1_uc010dpq.2_Missense_Mutation_p.K46T|CCBE1_uc002lia.2_Missense_Mutation_p.K170T	p.K317T	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			9	1020	-		Colorectal(73;0.175)	317			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.950A>C	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359951	0.61403	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	T;D	0.94280	-0.32;-3.39	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.70595	2.14	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.95924	0.8933	10	0.59425	D	0.04	-23.8675	12.9958	0.58646	0.0:0.0:0.0:1.0	.	46;317;126	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	T	317;46	ENSP00000404464:K317T;ENSP00000381241:K46T	ENSP00000381241:K46T	K	-	2	0	CCBE1	55257756	1.000000	0.71417	0.953000	0.39169	0.473000	0.32948	6.983000	0.76180	1.759000	0.51996	0.533000	0.62120	AAG		0.423	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	Missense_Mutation
ADNP2	22850	broad.mit.edu	37	18	77896514	77896514	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896514T>C	ENST00000262198.4	+	4	3673	c.3218T>C	c.(3217-3219)aTa>aCa	p.I1073T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1073					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAAAGGAAATAGAACTGTTG	0.313																																						uc002lnw.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3217-3219)ATA>ACA		ADNP homeobox 2							53.0	58.0	56.0					18																	77896514		2198	4295	6493	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896514T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3218T>C	18.37:g.77896514T>C	ENSP00000262198:p.Ile1073Thr						p.I1073T	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3673	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1073			Homeobox.		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3218T>C	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.570041	0.28003	.	.	ENSG00000101544	ENST00000262198	D	0.92099	-2.97	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.327747	0.29572	N	0.011762	D	0.89005	0.6592	L	0.58101	1.795	0.41560	D	0.988621	P	0.35272	0.493	B	0.31101	0.124	D	0.87966	0.2733	9	.	.	.	-11.4353	14.423	0.67196	0.0:0.0:0.0:1.0	.	1073	Q6IQ32	ADNP2_HUMAN	T	1073	ENSP00000262198:I1073T	.	I	+	2	0	ADNP2	75997505	0.368000	0.25031	0.975000	0.42487	0.755000	0.42902	0.566000	0.23593	2.009000	0.58944	0.459000	0.35465	ATA		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
ADNP2	22850	broad.mit.edu	37	18	77896534	77896534	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896534T>C	ENST00000262198.4	+	4	3693	c.3238T>C	c.(3238-3240)Ttt>Ctt	p.F1080L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1080					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTCCTCACTCTTTTGGGTGTG	0.328																																						uc002lnw.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3238-3240)TTT>CTT		ADNP homeobox 2							53.0	59.0	57.0					18																	77896534		2201	4295	6496	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896534T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3238T>C	18.37:g.77896534T>C	ENSP00000262198:p.Phe1080Leu						p.F1080L	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3693	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1080			Homeobox.		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3238T>C	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	0.292	-0.979442	0.02197	.	.	ENSG00000101544	ENST00000262198	D	0.89875	-2.58	4.75	-0.225	0.13111	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.117745	0.35936	N	0.002899	T	0.53899	0.1825	N	0.00088	-2.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61884	-0.6971	9	.	.	.	-7.674	8.8882	0.35416	0.0:0.518:0.0:0.482	.	1080	Q6IQ32	ADNP2_HUMAN	L	1080	ENSP00000262198:F1080L	.	F	+	1	0	ADNP2	75997525	0.005000	0.15991	0.523000	0.27875	0.892000	0.51952	0.142000	0.16096	0.051000	0.15978	0.459000	0.35465	TTT		0.328	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
GCDH	2639	broad.mit.edu	37	19	13008135	13008135	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:13008135A>T	ENST00000222214.5	+	10	1186	c.975A>T	c.(973-975)ccA>ccT	p.P325P	GCDH_ENST00000457854.1_Silent_p.P325P|GCDH_ENST00000591470.1_Silent_p.P325P|GCDH_ENST00000422947.2_Silent_p.P281P			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	325					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	TTGGTGTCCCACTGGCCAGGA	0.627																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2																			0					0						c.(973-975)CCA>CCT		glutaryl-Coenzyme A dehydrogenase isoform a							50.0	39.0	43.0					19																	13008135		2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008135A>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.975A>T	19.37:g.13008135A>T						GCDH_uc010xms.1_Silent_p.P292P|GCDH_uc002mvp.2_Silent_p.P325P|GCDH_uc010xmt.1_Silent_p.P159P|GCDH_uc010xmu.1_Silent_p.P281P	p.P325P	NM_000159	NP_000150	Q92947	GCDH_HUMAN			10	1052	+			325					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.975A>T	CCDS12286.1																																																																																				0.627	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
OR10H1	26539	broad.mit.edu	37	19	15917903	15917903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:15917903delA	ENST00000334920.2	-	1	1033	c.945delT	c.(943-945)aatfs	p.N315fs		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438																																						uc002nbq.2																			0					0						c.(943-945)AATfs		olfactory receptor, family 10, subfamily H,							87.0	85.0	86.0					19																	15917903		2203	4300	6503	SO:0001589	frameshift_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15917903delA	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.945delT	19.37:g.15917903delA	ENSP00000335596:p.Asn315fs						p.N315fs	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	1034	-			315			Cytoplasmic (Potential).		Q6IFQ2|Q96R59	Frame_Shift_Del	DEL	ENST00000334920.2	37	c.945delT	CCDS12335.1																																																																																				0.438	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
PDE4C	5143	broad.mit.edu	37	19	18327614	18327614	+	Silent	SNP	G	G	A	rs564646126	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:18327614G>A	ENST00000355502.3	-	16	2293	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	PDE4C_ENST00000597297.1_Silent_p.C244C|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Silent_p.C474C|PDE4C_ENST00000539010.1_Silent_p.C243C|PDE4C_ENST00000447275.3_Silent_p.C368C|PDE4C_ENST00000598111.2_Silent_p.C189C|PDE4C_ENST00000594465.3_Silent_p.C474C|PDE4C_ENST00000262805.12_Silent_p.C442C			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	474					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGAAGATATCGCAGTTCTCTG	0.602													-|||	2	0.000399361	0.0	0.0	5008	,	,		15260	0.0		0.0	False		,,,				2504	0.002					uc010xqc.1																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1420-1422)TGC>TGT		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						104.0	94.0	97.0					19																	18327614		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18327614G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1422C>T	19.37:g.18327614G>A						PDE4C_uc002nik.3_Silent_p.C474C|PDE4C_uc002nil.3_Silent_p.C474C|PDE4C_uc002nif.3_Silent_p.C243C|PDE4C_uc002nig.3_Silent_p.C189C|PDE4C_uc002nih.3_Silent_p.C244C|PDE4C_uc010ebk.2_Silent_p.C368C|PDE4C_uc002nii.3_Silent_p.C442C|PDE4C_uc010ebl.2_Silent_p.C188C|PDE4C_uc010xqd.1_Silent_p.C243C	p.C474C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			12	1902	-			474					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1422C>T	CCDS12373.1																																																																																				0.602	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1		
CILP2	148113	broad.mit.edu	37	19	19653191	19653191	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:19653191C>T	ENST00000291495.5	+	5	685	c.600C>T	c.(598-600)agC>agT	p.S200S	CILP2_ENST00000588333.2_3'UTR|CILP2_ENST00000586018.1_Silent_p.S206S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	200						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGGGTGCAGCCTTGACACCT	0.582																																						uc002nmv.3																			0				ovary(1)	1						c.(598-600)AGC>AGT		cartilage intermediate layer protein 2							33.0	31.0	32.0					19																	19653191		2203	4300	6503	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19653191C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.600C>T	19.37:g.19653191C>T						CILP2_uc002nmw.3_Silent_p.S206S	p.S200S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			5	685	+			200					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.600C>T	CCDS12405.1																																																																																				0.582	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
ZNF208	7757	broad.mit.edu	37	19	22154854	22154854	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:22154854A>T	ENST00000397126.4	-	4	3130	c.2982T>A	c.(2980-2982)atT>atA	p.I994I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	994					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.348																																						uc002nqp.2																			0				ovary(5)|skin(2)	7						c.(2596-2598)ATT>ATA		zinc finger protein 208							57.0	62.0	60.0					19																	22154854		2086	4235	6321	SO:0001819	synonymous_variant	7757							g.chr19:22154854A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2982T>A	19.37:g.22154854A>T						ZNF208_uc002nqo.1_Intron	p.I866I	NM_007153	NP_009084					6	2747	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2598T>A	CCDS54240.1																																																																																				0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
KMT2B	9757	broad.mit.edu	37	19	36222840	36222840	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:36222840C>T	ENST00000222270.7	+	27	5469	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.D1823D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1823					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCACTGGACACAGATGTTC	0.627																																						uc010eei.2																			0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5467-5469)GAC>GAT		myeloid/lymphoid or mixed-lineage leukemia 4							37.0	42.0	40.0					19																	36222840		1988	4141	6129	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36222840C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5469C>T	19.37:g.36222840C>T							p.D1823D	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		28	5469	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1823					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.5469C>T	CCDS46055.1																																																																																				0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
MEGF8	1954	broad.mit.edu	37	19	42873137	42873137	+	Silent	SNP	C	C	T	rs368865740		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:42873137C>T	ENST00000251268.6	+	37	6624	c.6624C>T	c.(6622-6624)acC>acT	p.T2208T	MEGF8_ENST00000334370.4_Silent_p.T2141T|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2208	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAAGACCGGCTATACCA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0					uc002otl.3																			0				ovary(1)	1						c.(6421-6423)ACC>ACT		multiple EGF-like-domains 8		C		0,4406		0,0,2203	62.0	63.0	63.0		6423	-9.5	0.1	19		63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MEGF8	NM_001410.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2141/2779	42873137	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873137C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6624C>T	19.37:g.42873137C>T						MEGF8_uc002otm.3_Silent_p.T1749T|MEGF8_uc002otn.3_5'Flank	p.T2141T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			36	7058	+		Prostate(69;0.00682)	2208			Extracellular (Potential).|EGF-like 5.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6423C>T																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
ZNF813	126017	broad.mit.edu	37	19	53994332	53994332	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:53994332G>A	ENST00000396403.4	+	4	974	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCAGTCAGACGTATTCCC	0.418																																						uc002qbu.2																			0				large_intestine(1)	1						c.(844-846)CAG>CAA		zinc finger protein 813							84.0	85.0	85.0					19																	53994332		2202	4300	6502	SO:0001819	synonymous_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994332G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.846G>A	19.37:g.53994332G>A						ZNF813_uc010eqq.1_Intron	p.Q282Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	974	+			282			C2H2-type 3.			Silent	SNP	ENST00000396403.4	37	c.846G>A	CCDS46172.1																																																																																				0.418	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
IL36B	27177	broad.mit.edu	37	2	113780342	113780342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:113780342C>T	ENST00000259213.4	-	6	511	c.404G>A	c.(403-405)tGg>tAg	p.W135*		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	135					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						GGAACTCTTCCACTTCTTTCT	0.438																																						uc002tiq.1																			0				ovary(1)	1						c.(403-405)TGG>TAG		interleukin 1 family, member 8 isoform 1							168.0	154.0	159.0					2																	113780342		2203	4300	6503	SO:0001587	stop_gained	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113780342C>T	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.404G>A	2.37:g.113780342C>T	ENSP00000259213:p.Trp135*						p.W135*	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN			6	508	-			135					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Nonsense_Mutation	SNP	ENST00000259213.4	37	c.404G>A	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	c	7.632	0.678976	0.14841	.	.	ENSG00000136696	ENST00000259213	.	.	.	0.538	0.538	0.17150	.	2121.900000	0.00481	U	0.000134	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	135	.	ENSP00000259213:W135X	W	-	2	0	IL36B	113496813	0.010000	0.17322	0.026000	0.17262	0.025000	0.11179	0.285000	0.18883	0.539000	0.28788	0.546000	0.68486	TGG		0.438	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438	
GALNT5	11227	broad.mit.edu	37	2	158165160	158165160	+	Missense_Mutation	SNP	G	G	A	rs200855507		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:158165160G>A	ENST00000259056.4	+	9	3087	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	868	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGGAGCCGTAAGGCTGCA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		18129	0.001		0.0	False		,,,				2504	0.0					uc002tzg.2																			0				breast(3)|skin(1)	4						c.(2602-2604)GTA>ATA		N-acetylgalactosaminyltransferase 5							125.0	131.0	129.0					2																	158165160		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165160G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2602G>A	2.37:g.158165160G>A	ENSP00000259056:p.Val868Ile					GALNT5_uc010zci.1_RNA	p.V868I	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			9	2857	+			868			Lumenal (Potential).|Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2602G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432629	0.04669	.	.	ENSG00000136542	ENST00000259056	T	0.34072	1.38	5.68	0.61	0.17580	Ricin B-related lectin (1);Ricin B lectin (3);	1.101510	0.06916	N	0.808501	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.25293	-1.0136	10	0.25751	T	0.34	.	4.6514	0.12596	0.326:0.3572:0.2518:0.0651	.	868	Q7Z7M9	GALT5_HUMAN	I	868	ENSP00000259056:V868I	ENSP00000259056:V868I	V	+	1	0	GALNT5	157873406	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.374000	0.07484	0.085000	0.17107	-2.373000	0.00235	GTA		0.408	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
TTN	7273	broad.mit.edu	37	2	179553840	179553840	+	Missense_Mutation	SNP	C	C	T	rs369932282		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:179553840C>T	ENST00000591111.1	-	123	31308	c.31084G>A	c.(31084-31086)Gtc>Atc	p.V10362I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10679I|TTN_ENST00000342992.6_Missense_Mutation_p.V9435I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTGGGACGGGTTTCTTA	0.428																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28303-28305)GTC>ATC		titin isoform N2-A		C	ILE/VAL,,,	0,3728		0,0,1864	78.0	80.0	79.0		28303,,,	5.3	0.8	2		79	1,8181		0,1,4090	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,5954	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,,,	9435/33424,,,	179553840	1,11909	1864	4091	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179553840C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31084G>A	2.37:g.179553840C>T	ENSP00000465570:p.Val10362Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	p.V9435I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		122	28527	-			10362					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28303G>A		.	.	.	.	.	.	.	.	.	.	C	11.44	1.638092	0.29157	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.68331	-0.32	5.3	5.3	0.74995	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67040	0.2851	L	0.50333	1.59	0.80722	D	1	P;D	0.54397	0.66;0.966	B;P	0.44477	0.141;0.451	T	0.72707	-0.4212	9	0.87932	D	0	.	19.3217	0.94243	0.0:1.0:0.0:0.0	.	10362;10362	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	I	9435;557;162	ENSP00000343764:V9435I	ENSP00000343764:V9435I	V	-	1	0	TTN	179262085	0.005000	0.15991	0.788000	0.31933	0.087000	0.18053	1.038000	0.30254	2.653000	0.90120	0.650000	0.86243	GTC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC108	255101	broad.mit.edu	37	2	219892442	219892442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:219892442C>T	ENST00000341552.5	-	13	2224	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R714H|CCDC108_ENST00000410037.1_Missense_Mutation_p.R649H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R714H|CCDC108_ENST00000409865.3_Missense_Mutation_p.R703H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	714						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGCAGGCGCATGGCCAT	0.597																																						uc002vjl.1																			0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2140-2142)CGC>CAC		coiled-coil domain containing 108 isoform 1							76.0	76.0	76.0					2																	219892442		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892442C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2141G>A	2.37:g.219892442C>T	ENSP00000340776:p.Arg714His					CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	p.R714H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2225	-		Renal(207;0.0915)	714					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2141G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463926	0.63513	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09350	3.29;3.29;3.29;2.99;2.99	5.18	4.3	0.51218	.	0.000000	0.47455	D	0.000227	T	0.12305	0.0299	M	0.71581	2.175	0.80722	D	1	P;P;P	0.46859	0.7;0.456;0.885	B;B;B	0.34652	0.132;0.109;0.187	T	0.04946	-1.0916	10	0.62326	D	0.03	-27.9193	11.6805	0.51455	0.0:0.8537:0.0:0.1463	.	703;648;714	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	H	714;714;714;190;703;649;648	ENSP00000340776:R714H;ENSP00000413377:R714H;ENSP00000409117:R714H;ENSP00000386945:R703H;ENSP00000386258:R649H	ENSP00000340776:R714H	R	-	2	0	CCDC108	219600686	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.429000	0.52800	1.415000	0.47037	0.655000	0.94253	CGC		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
COL6A3	1293	broad.mit.edu	37	2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:238289831C>T	ENST00000295550.4	-	5	2076	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_ENST00000346358.4_Missense_Mutation_p.G542S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G135S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G341S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G336S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G336S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G135S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G336S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	542	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGTAGCCGGCTGAACTC	0.557																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1624-1626)GGC>AGC		alpha 3 type VI collagen isoform 1 precursor							67.0	77.0	74.0					2																	238289831		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289831C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1624G>A	2.37:g.238289831C>T	ENSP00000295550:p.Gly542Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.2_Missense_Mutation_p.G336S|COL6A3_uc002vwr.2_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	p.G542S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1909	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	542			VWFA 3.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1624G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357384	0.82243	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000057	T	0.78941	0.4363	H	0.94462	3.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84160	0.0428	10	0.62326	D	0.03	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	542;135;135;336;336;542	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	S	542;341;336;135;336;542;336;135;542	ENSP00000295550:G542S;ENSP00000315609:G341S;ENSP00000315873:G336S;ENSP00000418285:G135S;ENSP00000386844:G336S;ENSP00000295546:G542S;ENSP00000375861:G336S;ENSP00000375860:G135S;ENSP00000389539:G542S	ENSP00000295550:G542S	G	-	1	0	COL6A3	237954570	0.999000	0.42202	0.957000	0.39632	0.110000	0.19582	4.596000	0.61055	2.628000	0.89032	0.655000	0.94253	GGC		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
PER2	8864	broad.mit.edu	37	2	239161798	239161798	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:239161798G>A	ENST00000254657.3	-	19	3145	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	956	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGTCTGGGGATCGAGGTC	0.667																																						uc002vyc.2																			0				upper_aerodigestive_tract(1)|breast(1)	2						c.(2866-2868)CCC>TCC		period 2							49.0	50.0	50.0					2																	239161798		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161798G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2866C>T	2.37:g.239161798G>A	ENSP00000254657:p.Pro956Ser					PER2_uc010znv.1_Missense_Mutation_p.P956S	p.P956S	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3103	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	956			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2866C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342607	0.11069	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	4.24	3.34	0.38264	.	2.441840	0.02535	U	0.094044	T	0.15609	0.0376	L	0.46885	1.475	0.52099	D	0.999945	B;B	0.23058	0.079;0.079	B;B	0.20767	0.031;0.021	T	0.14980	-1.0453	10	0.30854	T	0.27	-15.6793	7.4744	0.27368	0.208:0.0:0.792:0.0	.	956;956	B4DH14;O15055	.;PER2_HUMAN	S	956	ENSP00000254657:P956S	ENSP00000254657:P956S	P	-	1	0	PER2	238826537	1.000000	0.71417	0.022000	0.16811	0.031000	0.12232	4.227000	0.58612	1.053000	0.40415	0.655000	0.94253	CCC		0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
AQP12A	375318	broad.mit.edu	37	2	241631371	241631371	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:241631371C>T	ENST00000337801.4	+	1	110	c.41C>T	c.(40-42)aCc>aTc	p.T14I	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.T14I	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	14						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTTGCCACCTTCGCCCTC	0.677																																						uc002vzu.2																			0					0						c.(40-42)ACC>ATC		aquaporin 12A							78.0	87.0	84.0					2																	241631371		2188	4296	6484	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631371C>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.41C>T	2.37:g.241631371C>T	ENSP00000337144:p.Thr14Ile					AQP12A_uc002vzv.2_Intron	p.T14I	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	110	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	14			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000337801.4	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	.	0.015	-1.548015	0.00926	.	.	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.09817	2.94;2.94	2.43	1.51	0.23008	.	0.277718	0.33309	N	0.005058	T	0.06142	0.0159	L	0.31664	0.95	0.09310	N	1	B	0.26120	0.142	B	0.18263	0.021	T	0.35822	-0.9773	10	0.20046	T	0.44	-9.9026	6.8718	0.24125	0.0:0.8376:0.0:0.1623	.	14	Q8IXF9	AQ12A_HUMAN	I	14	ENSP00000337144:T14I;ENSP00000405899:T14I	ENSP00000337144:T14I	T	+	2	0	AQP12A	241280044	0.003000	0.15002	0.100000	0.21137	0.277000	0.26821	1.018000	0.30002	1.382000	0.46385	0.186000	0.17326	ACC		0.677	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998	
SRXN1	140809	broad.mit.edu	37	20	629466	629466	+	Silent	SNP	G	G	A	rs140166119		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:629466G>A	ENST00000381962.3	-	2	490	c.306C>T	c.(304-306)taC>taT	p.Y102Y	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	102					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGTAGGCCGCGTAGCGGTGGC	0.617																																						uc002wea.2																			0				ovary(1)	1						c.(304-306)TAC>TAT		sulfiredoxin 1 homolog		G		0,4406		0,0,2203	77.0	77.0	77.0		306	-4.4	0.6	20	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRXN1	NM_080725.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		102/138	629466	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629466G>A	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.306C>T	20.37:g.629466G>A						SRXN1_uc002web.2_RNA	p.Y102Y	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			2	367	-			102					B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	c.306C>T	CCDS13005.1																																																																																				0.617	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725	
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	rs576243101		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		24072	0.0		0.0	False		,,,				2504	0.0					uc010zqw.1																			1	Substitution - Missense(1)		ovary(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1057-1059)CGT>CAT		prokineticin receptor 2							206.0	166.0	179.0					20																	5282783		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282783C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.R353H|PROKR2_uc010zqy.1_Missense_Mutation_p.R353H	p.R353H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	1058	-			353			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1058G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
SEL1L2	80343	broad.mit.edu	37	20	13899669	13899669	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:13899669T>A	ENST00000284951.5	-	4	458	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.E128D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	128						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGACTTACTCTTCTTTTTGTT	0.343																																						uc010gcf.2																			0				ovary(2)	2						c.(382-384)GAA>GAT		sel-1 suppressor of lin-12-like 2 precursor							171.0	153.0	159.0					20																	13899669		1821	4088	5909	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13899669T>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.384A>T	20.37:g.13899669T>A	ENSP00000284951:p.Glu128Asp					SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.E128D|SEL1L2_uc002wor.2_RNA	p.E128D	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			4	466	-			128			Extracellular (Potential).|Sel1-like 1.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.384A>T		.	.	.	.	.	.	.	.	.	.	T	11.99	1.802261	0.31869	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.55760	0.68;0.68;0.5	5.4	4.27	0.50696	Tetratricopeptide-like helical (1);	0.977314	0.08378	N	0.954956	T	0.31009	0.0783	N	0.08118	0	0.31775	N	0.631593	B;B	0.31193	0.312;0.081	B;B	0.27887	0.072;0.084	T	0.31888	-0.9927	10	0.20519	T	0.43	-7.1682	8.7212	0.34441	0.1689:0.0:0.0:0.831	.	128;128	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	128;128;16	ENSP00000367312:E128D;ENSP00000284951:E128D;ENSP00000420372:E16D	ENSP00000284951:E128D	E	-	3	2	SEL1L2	13847669	0.544000	0.26441	1.000000	0.80357	0.804000	0.45430	0.147000	0.16202	0.945000	0.37605	0.377000	0.23210	GAA		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SPAG4	6676	broad.mit.edu	37	20	34206899	34206899	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:34206899G>A	ENST00000374273.3	+	8	884	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	258					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCGGAAGCCCGACTATGCTTT	0.592																																						uc002xdb.1																			0					0						c.(772-774)GAC>AAC		sperm associated antigen 4							118.0	110.0	113.0					20																	34206899		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206899G>A	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.772G>A	20.37:g.34206899G>A	ENSP00000363391:p.Asp258Asn					SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	p.D258N	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		8	889	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		258					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.772G>A	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153049	0.78001	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.58060	0.96;0.36	4.78	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.74881	2.28	0.44603	D	0.997577	D;D	0.89917	1.0;0.991	D;P	0.77557	0.99;0.617	T	0.70726	-0.4793	10	0.87932	D	0	-24.7079	8.828	0.35067	0.102:0.0:0.898:0.0	.	133;258	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	N	258;133	ENSP00000363391:D258N;ENSP00000396670:D133N	ENSP00000363391:D258N	D	+	1	0	SPAG4	33670313	0.999000	0.42202	0.973000	0.42090	0.806000	0.45545	4.550000	0.60733	1.379000	0.46325	0.462000	0.41574	GAC		0.592	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
PLCG1	5335	broad.mit.edu	37	20	39795447	39795447	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795447T>G	ENST00000373271.1	+	19	2654	c.2249T>G	c.(2248-2250)aTg>aGg	p.M750R	PLCG1_ENST00000373272.2_Missense_Mutation_p.M750R|PLCG1_ENST00000244007.3_Missense_Mutation_p.M750R	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	750	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACCGCAAGATGAAGCTGCGC	0.572																																						uc002xjp.1																			0				lung(3)|breast(3)|skin(2)	8						c.(2248-2250)ATG>AGG		phospholipase C, gamma 1 isoform b							124.0	113.0	116.0					20																	39795447		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795447T>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2249T>G	20.37:g.39795447T>G	ENSP00000362368:p.Met750Arg					PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.2_Missense_Mutation_p.M100R	p.M750R	NM_182811	NP_877963	P19174	PLCG1_HUMAN			19	2370	+		Myeloproliferative disorder(115;0.00878)	750			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2249T>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212308	0.79240	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65732	-0.17;-0.17;-0.17	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.72625	0.969;0.978;0.932;0.932	T	0.80056	-0.1542	10	0.87932	D	0	.	16.307	0.82852	0.0:0.0:0.0:1.0	.	750;326;750;750	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	R	750	ENSP00000244007:M750R;ENSP00000362368:M750R;ENSP00000362369:M750R	ENSP00000244007:M750R	M	+	2	0	PLCG1	39228861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.249000	0.74217	0.528000	0.53228	ATG		0.572	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
PLCG1	5335	broad.mit.edu	37	20	39795453	39795453	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795453T>A	ENST00000373271.1	+	19	2660	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	PLCG1_ENST00000373272.2_Missense_Mutation_p.L752Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.L752Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	752	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGATGAAGCTGCGCTATCCC	0.567																																						uc002xjp.1																			0				lung(3)|breast(3)|skin(2)	8						c.(2254-2256)CTG>CAG		phospholipase C, gamma 1 isoform b							123.0	112.0	115.0					20																	39795453		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795453T>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2255T>A	20.37:g.39795453T>A	ENSP00000362368:p.Leu752Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.2_Missense_Mutation_p.L102Q	p.L752Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			19	2376	+		Myeloproliferative disorder(115;0.00878)	752			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2255T>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959091	0.92726	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.98747	-5.11;-5.11;-5.11	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.99042	4.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97739	1.0207	10	0.87932	D	0	.	16.307	0.82852	0.0:0.0:0.0:1.0	.	752;328;752;752	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	Q	752	ENSP00000244007:L752Q;ENSP00000362368:L752Q;ENSP00000362369:L752Q	ENSP00000244007:L752Q	L	+	2	0	PLCG1	39228867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.249000	0.74217	0.528000	0.53228	CTG		0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
ERG	2078	broad.mit.edu	37	21	39795357	39795357	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:39795357G>A	ENST00000417133.2	-	5	569	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERG_ENST00000398905.1_Silent_p.N121N|ERG_ENST00000442448.1_Silent_p.N128N|ERG_ENST00000398911.1_Silent_p.N128N|ERG_ENST00000453032.2_Silent_p.N29N|ERG_ENST00000398897.1_Silent_p.N29N|ERG_ENST00000429727.2_Silent_p.N121N|ERG_ENST00000398919.2_Silent_p.N128N|ERG_ENST00000398907.1_Silent_p.N121N|ERG_ENST00000398910.1_Silent_p.N128N|ERG_ENST00000288319.7_Silent_p.N121N	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	146	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTCTGCGCTCGTTCGTGGTCA	0.602			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2				Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(382-384)AAC>AAT		ets-related isoform 4							239.0	155.0	183.0					21																	39795357		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795357G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.384C>T	21.37:g.39795357G>A						ERG_uc002yxa.2_Silent_p.N121N|ERG_uc011aek.1_Silent_p.N29N|ERG_uc010gnv.2_Silent_p.N29N|ERG_uc010gnx.2_Silent_p.N128N|ERG_uc011ael.1_Silent_p.N128N|ERG_uc002yxb.2_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.3_Silent_p.N128N	p.N128N	NM_001136155	NP_001129627	P11308	ERG_HUMAN			5	679	-		Prostate(19;3.6e-06)	128			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.384C>T	CCDS46648.1																																																																																				0.602	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
UBASH3A	53347	broad.mit.edu	37	21	43867265	43867265	+	Silent	SNP	C	C	T	rs529202353		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:43867265C>T	ENST00000319294.6	+	15	1978	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	UBASH3A_ENST00000291535.6_Silent_p.N611N|UBASH3A_ENST00000398367.1_3'UTR	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	649	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGGCGAACGCAGCATTTA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18754	0.0		0.0	False		,,,				2504	0.001					uc002zbe.2																			0				ovary(3)	3						c.(1945-1947)AAC>AAT		ubiquitin associated and SH3 domain containing,							135.0	139.0	138.0					21																	43867265		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43867265C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1947C>T	21.37:g.43867265C>T						UBASH3A_uc002zbf.2_Silent_p.N611N|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	p.N649N	NM_018961	NP_061834	P57075	UBS3A_HUMAN			15	1983	+			649			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1947C>T	CCDS13687.1																																																																																				0.527	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
GAL3ST1	9514	broad.mit.edu	37	22	30951882	30951882	+	Silent	SNP	G	G	A	rs112070427	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:30951882G>A	ENST00000402321.1	-	3	647	c.330C>T	c.(328-330)aaC>aaT	p.N110N	GAL3ST1_ENST00000402369.1_Silent_p.N110N|GAL3ST1_ENST00000401975.1_Silent_p.N110N|GAL3ST1_ENST00000406361.1_Silent_p.N110N|GAL3ST1_ENST00000338911.5_Silent_p.N110N|GAL3ST1_ENST00000406955.1_Silent_p.N110N|GAL3ST1_ENST00000443111.2_Silent_p.N110N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	110					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATTGCGGCCGTTAGGGAAGG	0.597													G|||	52	0.0103834	0.0378	0.0029	5008	,	,		16524	0.0		0.0	False		,,,				2504	0.0					uc003aig.1																			0					0						c.(328-330)AAC>AAT		galactose-3-O-sulfotransferase 1		G		159,4247	106.5+/-144.9	3,153,2047	97.0	82.0	87.0		330	-0.1	1.0	22	dbSNP_132	87	0,8600		0,0,4300	no	coding-synonymous	GAL3ST1	NM_004861.1		3,153,6347	AA,AG,GG		0.0,3.6087,1.2225		110/424	30951882	159,12847	2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951882G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.330C>T	22.37:g.30951882G>A						GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N	p.N110N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	470	-			110			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.330C>T	CCDS13879.1																																																																																				0.597	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
LINC00207	388910	broad.mit.edu	37	22	44966379	44966379	+	lincRNA	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:44966379G>A	ENST00000605505.1	+	0	157					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						CAACAAAACAGGTTCTGTTTA	0.488																																						uc003bev.1																			0					0						c.e2-1		SubName: Full=Novel gene;							60.0	55.0	56.0					22																	44966379		1956	4136	6092			388910							g.chr22:44966379G>A	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44966379G>A						NCRNA00207_uc011aqg.1_Splice_Site|NCRNA00207_uc011aqh.1_Splice_Site	p.V13_splice	NM_001012986	NP_001013004					2	104	+									Splice_Site	SNP	ENST00000605505.1	37	c.37_splice		.	.	.	.	.	.	.	.	.	.	G	4.267	0.048659	0.08243	.	.	ENSG00000187012	ENST00000334566	.	.	.	1.64	0.607	0.17564	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0193	0.09658	0.2209:0.0:0.7791:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCRNA00207	43345043	0.009000	0.17119	0.002000	0.10522	0.201000	0.24016	-0.175000	0.09825	0.279000	0.22186	0.655000	0.94253	.		0.488	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409	
PLCD1	5333	broad.mit.edu	37	3	38050824	38050824	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38050824C>A	ENST00000334661.4	-	10	1767	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.Q536H	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	515	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGTAGAAGGCCTGTCCAGGGG	0.577																																						uc003chn.2																			0				skin(1)	1						c.(1543-1545)CAG>CAT		phospholipase C, delta 1 isoform 2							74.0	79.0	78.0					3																	38050824		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050824C>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1545G>T	3.37:g.38050824C>A	ENSP00000335600:p.Gln515His					PLCD1_uc003chm.2_Missense_Mutation_p.Q536H	p.Q515H	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	1669	-			515			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1545G>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469339	0.26423	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.405812	0.26620	N	0.023369	T	0.54695	0.1874	N	0.25426	0.745	0.49798	D	0.999821	B;B	0.21071	0.051;0.029	B;B	0.25759	0.063;0.056	T	0.54563	-0.8275	10	0.52906	T	0.07	.	12.8184	0.57679	0.0:0.9175:0.0:0.0825	.	515;536	P51178;B3KR14	PLCD1_HUMAN;.	H	536;515	ENSP00000430344:Q536H;ENSP00000335600:Q515H	ENSP00000335600:Q515H	Q	-	3	2	PLCD1	38025828	0.968000	0.33430	0.999000	0.59377	0.755000	0.42902	1.512000	0.35812	2.606000	0.88127	0.555000	0.69702	CAG		0.577	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
SCN10A	6336	broad.mit.edu	37	3	38783979	38783979	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38783979T>A	ENST00000449082.2	-	13	1908	c.1909A>T	c.(1909-1911)Agc>Tgc	p.S637C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	637					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGAGACAAGCTGGTCAAGCAG	0.512																																						uc003ciq.2																			0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1909-1911)AGC>TGC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						174.0	159.0	164.0					3																	38783979		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38783979T>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1909A>T	3.37:g.38783979T>A	ENSP00000390600:p.Ser637Cys						p.S637C	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	13	1909	-			637					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1909A>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092131	0.55968	.	.	ENSG00000185313	ENST00000449082	D	0.95756	-3.8	4.42	0.325	0.15903	.	0.941794	0.09084	N	0.850828	D	0.89054	0.6606	L	0.29908	0.895	0.24664	N	0.993457	D	0.53885	0.963	B	0.36534	0.227	T	0.81984	-0.0682	10	0.87932	D	0	.	6.1944	0.20542	0.0:0.1588:0.1352:0.706	.	637	Q9Y5Y9	SCNAA_HUMAN	C	637	ENSP00000390600:S637C	ENSP00000390600:S637C	S	-	1	0	SCN10A	38758983	0.001000	0.12720	0.984000	0.44739	0.958000	0.62258	0.066000	0.14489	0.300000	0.22699	0.477000	0.44152	AGC		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
ITIH3	3699	broad.mit.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	rs199755994	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:52842629G>A	ENST00000449956.2	+	22	2611	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_ENST00000416872.2_Missense_Mutation_p.V677I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	869					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													G|||	5	0.000998403	0.0	0.0014	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0041					uc003dfv.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)|liver(1)	3						c.(2605-2607)GTC>ATC		inter-alpha (globulin) inhibitor H3		G	ILE/VAL	1,4115		0,1,2057	110.0	109.0	110.0		2605	4.8	1.0	3		110	0,8380		0,0,4190	no	missense	ITIH3	NM_002217.3	29	0,1,6247	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	869/891	52842629	1,12495	2058	4190	6248	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52842629G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2605G>A	3.37:g.52842629G>A	ENSP00000415769:p.Val869Ile					ITIH3_uc011bek.1_Missense_Mutation_p.V677I	p.V869I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	22	2641	+			869					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2605G>A	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.36	3.369890	0.61624	2.43E-4	0.0	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.15603	2.41;2.41	5.65	4.77	0.60923	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.189856	0.46145	N	0.000311	T	0.33469	0.0864	L	0.54323	1.7	0.29241	N	0.872638	D;P	0.76494	0.999;0.86	D;B	0.79784	0.993;0.28	T	0.12218	-1.0556	10	0.30078	T	0.28	-32.0456	11.5653	0.50802	0.0839:0.0:0.9161:0.0	.	677;869	E7ET33;Q06033	.;ITIH3_HUMAN	I	864;677;869	ENSP00000413922:V677I;ENSP00000415769:V869I	ENSP00000273291:V864I	V	+	1	0	ITIH3	52817669	0.964000	0.33143	0.995000	0.50966	0.833000	0.47200	1.484000	0.35508	1.395000	0.46643	0.655000	0.94253	GTC		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	A	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423																																						uc003eig.1																			0					0						c.(112-114)CTT>CTG		asparagine-linked glycosylation 1-like							89.0	82.0	85.0					3																	125651539		2203	4300	6503	SO:0001819	synonymous_variant	200810						transferase activity, transferring glycosyl groups	g.chr3:125651539A>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.114T>G	3.37:g.125651539A>C							p.L38L	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN			3	278	-			38					D3DNA5	Silent	SNP	ENST00000340333.3	37	c.114T>G	CCDS33840.1																																																																																				0.423	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050	
NAALADL2	254827	broad.mit.edu	37	3	174951943	174951943	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:174951943C>G	ENST00000454872.1	+	3	896	c.768C>G	c.(766-768)agC>agG	p.S256R	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	256						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATAGCAGCCAAGACCTGC	0.463																																						uc003fit.2																			0				pancreas(1)	1						c.(766-768)AGC>AGG		N-acetylated alpha-linked acidic dipeptidase 2							79.0	76.0	77.0					3																	174951943		1942	4146	6088	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951943C>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.768C>G	3.37:g.174951943C>G	ENSP00000404705:p.Ser256Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	p.S256R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	855	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	256			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.768C>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060850	0.36373	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.43294	0.95	5.57	5.57	0.84162	.	0.273464	0.32372	N	0.006197	T	0.56470	0.1987	M	0.65498	2.005	0.29463	N	0.857648	D;P	0.64830	0.994;0.938	D;P	0.64042	0.921;0.694	T	0.55927	-0.8063	10	0.33940	T	0.23	-3.7239	10.1277	0.42661	0.0:0.8517:0.0:0.1483	.	239;256	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	R	256;63	ENSP00000404705:S256R	ENSP00000314951:S63R	S	+	3	2	NAALADL2	176434637	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	2.391000	0.44424	2.652000	0.90054	0.650000	0.86243	AGC		0.463	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
YEATS2	55689	broad.mit.edu	37	3	183470006	183470006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:183470006C>T	ENST00000305135.5	+	10	1310	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	372					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGCAGTCACATGAGCCA	0.478																																						uc003fly.2																			0				ovary(3)|large_intestine(1)	4						c.(1114-1116)TCA>TTA		YEATS domain containing 2							144.0	136.0	139.0					3																	183470006		1950	4140	6090	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183470006C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1115C>T	3.37:g.183470006C>T	ENSP00000306983:p.Ser372Leu						p.S372L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1310	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		372					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1115C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203317	0.38905	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.32272	1.46	5.15	5.15	0.70609	.	0.293334	0.28176	N	0.016308	T	0.16811	0.0404	N	0.14661	0.345	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-4.2494	6.9774	0.24683	0.0:0.7252:0.1781:0.0968	.	372	Q9ULM3	YETS2_HUMAN	L	372	ENSP00000306983:S372L	ENSP00000306983:S372L	S	+	2	0	YEATS2	184952700	0.850000	0.29656	0.992000	0.48379	0.964000	0.63967	2.477000	0.45180	2.417000	0.82017	0.655000	0.94253	TCA		0.478	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
VPS8	23355	broad.mit.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	rs200270246	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:184714255C>T	ENST00000437079.3	+	44	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000287546.4_Missense_Mutation_p.R1268C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C|VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.001					uc003fpb.1																			0				ovary(1)	1						c.(3796-3798)CGC>TGC		vacuolar protein sorting 8 homolog isoform b		C	CYS/ARG,CYS/ARG	0,3814		0,0,1907	81.0	79.0	79.0		3802,3796	6.0	1.0	3		79	1,8249		0,1,4124	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	180,180	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	1268/1429,1266/1427	184714255	1,12063	1907	4125	6032	SO:0001583	missense	23355						zinc ion binding	g.chr3:184714255C>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3802C>T	3.37:g.184714255C>T	ENSP00000397879:p.Arg1268Cys					VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	p.R1266C	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3967	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1268			RING-type; atypical.		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3796C>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232170	0.79688	0.0	1.21E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.091135	0.64402	D	0.000001	T	0.76162	0.3949	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.64410	0.844;0.922;0.925	T	0.76022	-0.3111	10	0.54805	T	0.06	-11.6005	13.4353	0.61079	0.2565:0.7435:0.0:0.0	.	1268;1176;1266	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	C	1268;1268;1266;1176	ENSP00000287546:R1268C;ENSP00000397879:R1268C;ENSP00000404704:R1266C;ENSP00000405483:R1176C	ENSP00000287546:R1268C	R	+	1	0	VPS8	186196949	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.826000	0.48104	2.854000	0.98071	0.655000	0.94253	CGC		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
DGKQ	1609	broad.mit.edu	37	4	956607	956607	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:956607C>T	ENST00000273814.3	-	17	2061	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	663	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGCCAGTCGGTACCGTGT	0.687																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2																			0				kidney(1)	1						c.(1987-1989)CGA>CAA		diacylglycerol kinase, theta							29.0	26.0	27.0					4																	956607		2177	4288	6465	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956607C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1988G>A	4.37:g.956607C>T	ENSP00000273814:p.Arg663Gln					DGKQ_uc010ibn.2_Missense_Mutation_p.R650Q	p.R663Q	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		17	2062	-			663			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1988G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.318327|3.318327	0.60524|0.60524	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.22743	.|1.94	4.9|4.9	-8.01|-8.01	0.01122|0.01122	.|Diacylglycerol kinase, catalytic domain (3);	.|0.453023	.|0.25313	.|N	.|0.031568	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|P;P	.|0.46220	.|0.672;0.874	.|B;B	.|0.34138	.|0.176;0.131	T|T	0.41179|0.41179	-0.9523|-0.9523	5|10	.|0.51188	.|T	.|0.08	.|.	16.1436|16.1436	0.81548|0.81548	0.0:0.1068:0.0:0.8932|0.0:0.1068:0.0:0.8932	.|.	.|663;663	.|E9KL49;P52824	.|.;DGKQ_HUMAN	N|Q	597|663	.|ENSP00000273814:R663Q	.|ENSP00000273814:R663Q	D|R	-|-	1|2	0|0	DGKQ|DGKQ	946607|946607	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.772000|0.772000	0.43724|0.43724	-1.636000|-1.636000	0.02016|0.02016	-1.535000|-1.535000	0.01740|0.01740	-0.345000|-0.345000	0.07892|0.07892	GAC|CGA		0.687	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		
KLHL5	51088	broad.mit.edu	37	4	39116882	39116882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:39116882G>A	ENST00000504108.1	+	10	2426	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	KLHL5_ENST00000508137.2_Missense_Mutation_p.G528R|KLHL5_ENST00000261426.5_Missense_Mutation_p.G654R|KLHL5_ENST00000261425.3_Missense_Mutation_p.G669R|KLHL5_ENST00000381930.3_Missense_Mutation_p.G715R|KLHL5_ENST00000359687.2_Missense_Mutation_p.G715R|RP11-360F5.1_ENST00000509449.1_RNA	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	715						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGTTGGGGGGTATGATGG	0.458																																						uc003gts.2																			0				ovary(1)	1						c.(2143-2145)GGG>AGG		kelch-like 5 isoform 1							116.0	103.0	108.0					4																	39116882		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39116882G>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2143G>A	4.37:g.39116882G>A	ENSP00000423897:p.Gly715Arg					KLHL5_uc003gtp.2_Missense_Mutation_p.G669R|KLHL5_uc003gtq.2_Missense_Mutation_p.G528R|KLHL5_uc003gtr.1_Missense_Mutation_p.G715R|KLHL5_uc003gtt.2_Missense_Mutation_p.G654R	p.G715R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			10	2218	+			715			Kelch 6.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.2143G>A	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949597|4.949597	0.92660|0.92660	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000515612|ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	D|D;D;D;D;D;D	0.98792|0.99494	-5.14|-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Kelch-type beta propeller (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99849|0.99849	0.9930|0.9930	H|H	0.99851|0.99851	4.845|4.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96506|0.96506	0.9375|0.9375	8|10	0.87932|0.87932	D|D	0|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|654;715;715	.|F8WAE7;Q96PQ7;Q96PQ7-2	.|.;KLHL5_HUMAN;.	E|R	226|749;669;528;715;715;715;654;309	ENSP00000425512:G226E|ENSP00000261425:G669R;ENSP00000423080:G528R;ENSP00000423897:G715R;ENSP00000352716:G715R;ENSP00000371355:G715R;ENSP00000261426:G654R	ENSP00000425512:G226E|ENSP00000261425:G669R	G|G	+|+	2|1	0|0	KLHL5|KLHL5	38793277|38793277	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.605000|0.605000	0.37080|0.37080	9.623000|9.623000	0.98386|0.98386	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.458	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
IGJ	3512	broad.mit.edu	37	4	71527860	71527860	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:71527860C>T	ENST00000254801.4	-	2	306	c.137G>A	c.(136-138)cGt>cAt	p.R46H	IGJ_ENST00000543780.1_Missense_Mutation_p.R62H|ENAM_ENST00000472903.1_3'UTR	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	46					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTCGGAAGAACGGATGATCCT	0.383																																						uc003hfn.3																			0					0						c.(136-138)CGT>CAT		immunoglobulin J chain							137.0	131.0	133.0					4																	71527860		2203	4300	6503	SO:0001583	missense	3512				immune response	extracellular region	antigen binding	g.chr4:71527860C>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.137G>A	4.37:g.71527860C>T	ENSP00000254801:p.Arg46His					IGJ_uc010ihz.2_Missense_Mutation_p.R62H	p.R46H	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		2	278	-			46						Missense_Mutation	SNP	ENST00000254801.4	37	c.137G>A	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495732	0.26774	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.43	1.59	0.23543	.	0.421145	0.22672	N	0.057051	T	0.28732	0.0712	N	0.19112	0.55	0.09310	N	1	D;P	0.59767	0.986;0.954	P;B	0.44696	0.458;0.365	T	0.24548	-1.0157	9	0.41790	T	0.15	.	18.0392	0.89314	0.0:0.2008:0.7992:0.0	.	62;46	D6RHJ6;P01591	.;IGJ_HUMAN	H	46;46;62;55;62;46	.	ENSP00000254801:R46H	R	-	2	0	IGJ	71746724	0.091000	0.21658	0.107000	0.21349	0.011000	0.07611	-0.156000	0.10100	-0.016000	0.14127	0.650000	0.86243	CGT		0.383	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646	
CXXC4	80319	broad.mit.edu	37	4	105412449	105412449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:105412449G>A	ENST00000426831.1	-	1	18	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.H171Y			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	2					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTCGGTGGTGCATGCTGGTC	0.687																																						uc003hxg.2																			0				ovary(1)	1						c.(4-6)CAC>TAC		CXXC finger 4																																				SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412449G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.4C>T	4.37:g.105412449G>A	ENSP00000412267:p.His2Tyr					uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron	p.H2Y	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	1	19	-			2						Missense_Mutation	SNP	ENST00000426831.1	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191071	0.38707	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	2.05	2.05	0.26809	.	0.218040	0.36628	N	0.002481	T	0.31451	0.0797	N	0.08118	0	0.35783	D	0.82181	P	0.39094	0.659	B	0.42959	0.403	T	0.52147	-0.8614	9	0.87932	D	0	-3.2686	12.1783	0.54198	0.0:0.0:1.0:0.0	.	2	Q9H2H0	CXXC4_HUMAN	Y	2	.	ENSP00000378248:H2Y	H	-	1	0	CXXC4	105631898	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.304000	0.78882	1.190000	0.43042	0.289000	0.19496	CAC		0.687	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212	
CDH18	1016	broad.mit.edu	37	5	19747216	19747216	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:19747216G>T	ENST00000507958.1	-	6	1348	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	CDH18_ENST00000274170.4_Missense_Mutation_p.Q120K|CDH18_ENST00000511273.1_Missense_Mutation_p.Q120K|CDH18_ENST00000506372.1_Missense_Mutation_p.Q120K|CDH18_ENST00000502796.1_Missense_Mutation_p.Q120K|CDH18_ENST00000382275.1_Missense_Mutation_p.Q120K			Q13634	CAD18_HUMAN	cadherin 18, type 2	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGGTCTTCTGCTCTCTGTCT	0.433																																						uc003jgc.2																			0				ovary(5)|large_intestine(1)|skin(1)	7						c.(358-360)CAG>AAG		cadherin 18, type 2 preproprotein							251.0	224.0	233.0					5																	19747216		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747216G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.358C>A	5.37:g.19747216G>T	ENSP00000425093:p.Gln120Lys					CDH18_uc003jgd.2_Missense_Mutation_p.Q120K|CDH18_uc011cnm.1_Missense_Mutation_p.Q120K	p.Q120K	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	735	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		120			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.358C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609057	0.46527	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.119567	0.64402	D	0.000016	T	0.26448	0.0646	N	0.03324	-0.35	0.43771	D	0.996297	B;B	0.02656	0.0;0.0	B;B	0.12837	0.004;0.008	T	0.11641	-1.0579	9	.	.	.	.	17.3587	0.87344	0.0:0.0:1.0:0.0	.	120;120	B4DHG6;Q13634	.;CAD18_HUMAN	K	120;120;120;120;120;120;66;120	ENSP00000371710:Q120K;ENSP00000425093:Q120K;ENSP00000274170:Q120K;ENSP00000424931:Q120K;ENSP00000422138:Q120K;ENSP00000427383:Q66K;ENSP00000425854:Q120K	.	Q	-	1	0	CDH18	19782973	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.982000	0.49337	2.441000	0.82636	0.591000	0.81541	CAG		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PRDM9	56979	broad.mit.edu	37	5	23523414	23523414	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:23523414A>G	ENST00000296682.3	+	9	1079	c.897A>G	c.(895-897)agA>agG	p.R299R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	299	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAGGGGAGAAACTGCTATG	0.428										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(895-897)AGA>AGG		PR domain containing 9							129.0	126.0	127.0					5																	23523414		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523414A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.897A>G	5.37:g.23523414A>G		HNSCC(3;0.000094)					p.R299R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			9	1079	+			299			SET.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.897A>G	CCDS43307.1																																																																																				0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ADAMTS12	81792	broad.mit.edu	37	5	33615934	33615934	+	Splice_Site	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:33615934T>C	ENST00000504830.1	-	15	2722	c.2387A>G	c.(2386-2388)cAg>cGg	p.Q796R	ADAMTS12_ENST00000352040.3_Splice_Site_p.Q711R|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	796	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCATTACCTGGATCCACAC	0.473										HNSCC(64;0.19)																												uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2386-2388)CAG>CGG		ADAM metallopeptidase with thrombospondin type 1							137.0	122.0	127.0					5																	33615934		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33615934T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2388+1A>G	5.37:g.33615934T>C		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q711R	p.Q796R	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2550	-			796			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2387A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422343	0.83559	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53423	0.62;0.62	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.107334	0.64402	D	0.000004	T	0.71333	0.3327	M	0.90542	3.125	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.985	T	0.73183	-0.4063	10	0.13853	T	0.58	.	15.0085	0.71530	0.0:0.0:0.0:1.0	.	711;796	P58397-3;P58397	.;ATS12_HUMAN	R	796;711	ENSP00000422554:Q796R;ENSP00000344847:Q711R	ENSP00000344847:Q711R	Q	-	2	0	ADAMTS12	33651691	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.869000	0.87170	2.007000	0.58848	0.459000	0.35465	CAG		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Missense_Mutation
MAP3K1	4214	broad.mit.edu	37	5	56168509	56168509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:56168509C>T	ENST00000399503.3	+	8	1465	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	489					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTAATATGTCCCCTTTGTAG	0.279																																						uc003jqw.3																			0				ovary(1)|skin(1)	2						c.(1465-1467)CCC>TCC		mitogen-activated protein kinase kinase kinase							82.0	78.0	79.0					5																	56168509		1788	4062	5850	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168509C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1465C>T	5.37:g.56168509C>T	ENSP00000382423:p.Pro489Ser						p.P489S	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	8	1966	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	489			RING-type.			Missense_Mutation	SNP	ENST00000399503.3	37	c.1465C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825124	0.90955	.	.	ENSG00000095015	ENST00000399503	D	0.94576	-3.46	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96782	0.9576	10	0.87932	D	0	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	489	Q13233	M3K1_HUMAN	S	489	ENSP00000382423:P489S	ENSP00000382423:P489S	P	+	1	0	MAP3K1	56204266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.718000	0.74713	2.834000	0.97654	0.650000	0.86243	CCC		0.279	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
NAIP	4671	broad.mit.edu	37	5	70308329	70308329	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:70308329G>A	ENST00000517649.1	-	4	704	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_ENST00000508426.2_Silent_p.Y138Y|NAIP_ENST00000194097.4_Silent_p.Y138Y|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	138					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)	p.Y138Y(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483																																						uc003kar.1																			1	Substitution - coding silent(1)	p.Y138Y(1)	central_nervous_system(1)	central_nervous_system(1)	1						c.(412-414)TAC>TAT		NLR family, apoptosis inhibitory protein isoform							213.0	174.0	187.0					5																	70308329		2202	4296	6498	SO:0001819	synonymous_variant	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308329G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.414C>T	5.37:g.70308329G>A						NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	p.Y138Y	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1132	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	138					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Silent	SNP	ENST00000517649.1	37	c.414C>T	CCDS4009.1																																																																																				0.483	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536	
FAM81B	153643	broad.mit.edu	37	5	94749771	94749771	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:94749771C>T	ENST00000283357.5	+	4	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	138						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAGGAGGACATCTCTGCTT	0.522																																						uc003kla.1																			0				ovary(1)|skin(1)	2						c.(412-414)GAC>GAT		hypothetical protein LOC153643							105.0	108.0	107.0					5																	94749771		2003	4177	6180	SO:0001819	synonymous_variant	153643							g.chr5:94749771C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.414C>T	5.37:g.94749771C>T						FAM81B_uc010jbe.1_5'UTR	p.D138D	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	460	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	138						Silent	SNP	ENST00000283357.5	37	c.414C>T	CCDS43341.1																																																																																				0.522	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
PCDHA7	56141	broad.mit.edu	37	5	140215715	140215715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:140215715C>T	ENST00000525929.1	+	1	1747	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R583W|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTGCCGCGGTCTGTGGG	0.657																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				ovary(2)|skin(2)	4						c.(1747-1749)CGG>TGG		protocadherin alpha 7 isoform 1 precursor							102.0	102.0	102.0					5																	140215715		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215715C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1747C>T	5.37:g.140215715C>T	ENSP00000436426:p.Arg583Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R583W	p.R583W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1747	+			583			Cadherin 6.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1747C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	3.608	-0.080160	0.07141	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.38722	1.12;1.12	3.67	-0.661	0.11417	Cadherin (2);Cadherin-like (1);	0.356243	0.15743	U	0.246805	T	0.42877	0.1222	M	0.80982	2.52	0.09310	N	1	B;B	0.33494	0.414;0.331	B;B	0.39299	0.296;0.082	T	0.43702	-0.9375	10	0.56958	D	0.05	.	3.871	0.09036	0.4082:0.38:0.1327:0.0791	.	583;583	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	583	ENSP00000436426:R583W;ENSP00000367365:R583W	ENSP00000367365:R583W	R	+	1	2	PCDHA7	140195899	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.347000	0.02632	-0.292000	0.08999	0.462000	0.41574	CGG		0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
NMUR2	56923	broad.mit.edu	37	5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:151784353G>A	ENST00000255262.3	-	1	487	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587																																						uc003luv.2																			0				ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(322-324)CGC>TGC		neuromedin U receptor 2							90.0	95.0	93.0					5																	151784353		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784353G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.322C>T	5.37:g.151784353G>A	ENSP00000255262:p.Arg108Cys						p.R108C	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	488	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	108			Extracellular (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.322C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794466	0.31777	.	.	ENSG00000132911	ENST00000255262	T	0.37752	1.18	5.54	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	0.631366	0.15933	N	0.237584	T	0.23611	0.0571	L	0.41573	1.285	0.37591	D	0.920176	B	0.19706	0.038	B	0.10450	0.005	T	0.11941	-1.0567	10	0.38643	T	0.18	-3.716	3.6823	0.08314	0.2827:0.0:0.4113:0.306	.	108	Q9GZQ4	NMUR2_HUMAN	C	108	ENSP00000255262:R108C	ENSP00000255262:R108C	R	-	1	0	NMUR2	151764546	0.988000	0.35896	0.987000	0.45799	0.986000	0.74619	0.935000	0.28924	0.697000	0.31718	0.655000	0.94253	CGC		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
TIMD4	91937	broad.mit.edu	37	5	156349123	156349123	+	Silent	SNP	C	C	T	rs188217458		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:156349123C>T	ENST00000274532.2	-	7	1055	c.999G>A	c.(997-999)gcG>gcA	p.A333A	TIMD4_ENST00000406964.1_Silent_p.A35A|TIMD4_ENST00000407087.3_Silent_p.A305A	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	333						integral component of membrane (GO:0016021)		p.A333A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAGAAACGCCACAAACA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21166	0.001		0.0	False		,,,				2504	0.0					uc003lwh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(997-999)GCG>GCA		T-cell immunoglobulin and mucin domain							135.0	122.0	126.0					5																	156349123		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156349123C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.999G>A	5.37:g.156349123C>T						TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	p.A333A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1056	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	333			Helical; (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.999G>A	CCDS4332.1																																																																																				0.517	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
MYLIP	29116	broad.mit.edu	37	6	16143302	16143302	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:16143302A>C	ENST00000356840.3	+	4	714	c.516A>C	c.(514-516)gaA>gaC	p.E172D	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTTCAGCTGAATACCAAGTTT	0.463																																						uc003nbq.2																			0				pancreas(1)	1						c.(514-516)GAA>GAC		myosin regulatory light chain interacting							99.0	91.0	94.0					6																	16143302		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143302A>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.516A>C	6.37:g.16143302A>C	ENSP00000349298:p.Glu172Asp					MYLIP_uc003nbr.2_5'UTR	p.E172D	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		4	753	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	172			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.516A>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052562	0.75960	.	.	ENSG00000007944	ENST00000356840	T	0.79033	-1.23	5.57	-7.88	0.01178	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.58101	1.795	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.83983	0.0333	10	0.33940	T	0.23	.	14.5919	0.68371	0.5062:0.0:0.4938:0.0	.	172	Q8WY64	MYLIP_HUMAN	D	172	ENSP00000349298:E172D	ENSP00000349298:E172D	E	+	3	2	MYLIP	16251281	0.998000	0.40836	0.077000	0.20336	0.945000	0.59286	0.537000	0.23144	-1.700000	0.01414	-0.290000	0.09829	GAA		0.463	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
VN1R10P	387316	broad.mit.edu	37	6	27293586	27293586	+	IGR	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:27293586A>G								POM121L2 (13637 upstream) : ZNF391 (48807 downstream)																							TGCATCAAAGAAATCCTGATA	0.333																																						uc010jqt.2																			0					0						c.(523-525)AGA>AGG		FKSG83							25.0	22.0	23.0					6																	27293586		1795	4053	5848	SO:0001628	intergenic_variant	83954					integral to membrane	pheromone receptor activity	g.chr6:27293586A>G																													6.37:g.27293586A>G						FKSG83_uc010jqs.1_3'UTR	p.R175R	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN			1	1009	+			175						Silent	SNP		37	c.525A>G																																																																																				0	0.333								
SLC22A7	10864	broad.mit.edu	37	6	43267438	43267438	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:43267438G>A	ENST00000372585.5	+	4	672	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.V191I|SLC22A7_ENST00000372574.3_Missense_Mutation_p.V191I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	193					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCAGCCTCCGTCAGCTATGT	0.587																																						uc003out.2																			0					0						c.(577-579)GTC>ATC		solute carrier family 22 member 7 isoform b							95.0	94.0	94.0					6																	43267438		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267438G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.577G>A	6.37:g.43267438G>A	ENSP00000361666:p.Val193Ile					SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.2_Missense_Mutation_p.V191I	p.V193I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	676	+			193			Helical; (Potential).		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.577G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292719	0.40594	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.56	1.75	0.24633	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.694088	0.13984	N	0.349316	T	0.21347	0.0514	L	0.39326	1.205	0.09310	N	0.999997	B;B;B	0.13594	0.008;0.006;0.006	B;B;B	0.21708	0.036;0.008;0.008	T	0.27773	-1.0064	10	0.35671	T	0.21	.	8.3472	0.32281	0.3252:0.0:0.6748:0.0	.	193;191;191	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	I	62;252;191;193;191	ENSP00000416052:V62I;ENSP00000411818:V252I;ENSP00000361670:V191I;ENSP00000361666:V193I;ENSP00000361655:V191I	ENSP00000361655:V191I	V	+	1	0	SLC22A7	43375416	0.082000	0.21442	0.387000	0.26183	0.983000	0.72400	0.843000	0.27640	0.285000	0.22329	0.462000	0.41574	GTC		0.587	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
AARS2	57505	broad.mit.edu	37	6	44270876	44270876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:44270876delC	ENST00000244571.4	-	16	2184	c.2182delG	c.(2182-2184)gtgfs	p.V728fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCACGGGCACCCCCACTGAT	0.602																																						uc010jza.1																			0				ovary(1)	1						c.(2182-2184)GTGfs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						58.0	60.0	60.0					6																	44270876		2203	4300	6503	SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270876delC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2182delG	6.37:g.44270876delC	ENSP00000244571:p.Val728fs					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.V728fs	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2185	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		728						Frame_Shift_Del	DEL	ENST00000244571.4	37	c.2182delG	CCDS34464.1																																																																																				0.602	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
MEP1A	4224	broad.mit.edu	37	6	46806843	46806843	+	Silent	SNP	C	C	T	rs139598232	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:46806843C>T	ENST00000230588.4	+	14	2220	c.2211C>T	c.(2209-2211)atC>atT	p.I737I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	737					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTCCATCATCGCCATCCTTT	0.602																																						uc010jzh.1																			0				pancreas(2)|ovary(1)	3						c.(2209-2211)ATC>ATT		meprin A alpha precursor		C		2,4404	4.2+/-10.8	0,2,2201	89.0	72.0	77.0		2211	1.8	0.4	6	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MEP1A	NM_005588.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		737/747	46806843	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806843C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2211C>T	6.37:g.46806843C>T						MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwh.1_Silent_p.I765I|MEP1A_uc011dwi.1_Silent_p.I637I	p.I737I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2253	+			737			Helical; (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.2211C>T	CCDS4918.1																																																																																				0.602	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
KHDC3L	154288	broad.mit.edu	37	6	74073290	74073290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:74073290G>A	ENST00000370367.3	+	3	414	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	121							RNA binding (GO:0003723)										CTCAGGAAAGGCCCTCGCCCA	0.617																																						uc003pgt.3																			0				skin(2)	2						c.(361-363)GCC>ACC		hypothetical protein LOC154288							31.0	35.0	34.0					6																	74073290		2203	4299	6502	SO:0001583	missense	154288							g.chr6:74073290G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.361G>A	6.37:g.74073290G>A	ENSP00000359392:p.Ala121Thr						p.A121T	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			3	414	+			121					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.361G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546430	0.27652	.	.	ENSG00000203908	ENST00000370367	T	0.51071	0.72	3.0	-2.4	0.06583	.	1.311810	0.05471	N	0.553077	T	0.13286	0.0322	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.16289	0.015	T	0.16129	-1.0413	10	0.35671	T	0.21	-2.057	4.3251	0.11036	0.5214:0.1853:0.2933:0.0	.	121	Q587J8	ECAT1_HUMAN	T	121	ENSP00000359392:A121T	ENSP00000359392:A121T	A	+	1	0	C6orf221	74130011	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.201000	0.09464	-0.629000	0.05575	-0.136000	0.14681	GCC		0.617	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
MACC1	346389	broad.mit.edu	37	7	20198221	20198221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:20198221G>A	ENST00000400331.5	-	5	2071	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	MACC1_ENST00000332878.4_Missense_Mutation_p.A588V|MACC1_ENST00000589011.1_Missense_Mutation_p.A588V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	588	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGACCAATAGCTTTTACCTT	0.418																																						uc003sus.3																			0				ovary(2)|skin(1)	3						c.(1762-1764)GCT>GTT		putative binding protein 7a5							160.0	158.0	159.0					7																	20198221		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198221G>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1763C>T	7.37:g.20198221G>A	ENSP00000383185:p.Ala588Val					MACC1_uc010kug.2_Missense_Mutation_p.A588V	p.A588V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	2072	-			588			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1763C>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847339	0.32606	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10288	2.89;2.89	5.81	4.94	0.65067	Src homology-3 domain (1);Variant SH3 (1);	0.150231	0.64402	N	0.000010	T	0.22551	0.0544	M	0.68317	2.08	0.51767	D	0.999931	D	0.57899	0.981	P	0.54210	0.745	T	0.04242	-1.0966	10	0.20046	T	0.44	-11.4479	15.185	0.72993	0.0676:0.0:0.9324:0.0	.	588	Q6ZN28	MACC1_HUMAN	V	588	ENSP00000383185:A588V;ENSP00000328410:A588V	ENSP00000328410:A588V	A	-	2	0	MACC1	20164746	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.826000	0.69293	1.472000	0.48140	-0.126000	0.14955	GCT		0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
Unknown	0	broad.mit.edu	37	7	39873998	39873998	+	IGR	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:39873998A>G								LINC00265 (41307 upstream) : RN7SL496P (53973 downstream)																							GCCCTCCAGGAACACCCATTA	0.567																																						uc010kxp.2																			0											c.(748-750)GAA>GGA		SubName: Full=Similar to sequence-specific single-stranded-DNA-binding protein;																																				SO:0001628	intergenic_variant	0							g.chr7:39873998A>G																													7.37:g.39873998A>G							p.E250G							2	1106	+									Missense_Mutation	SNP		37	c.749A>G																																																																																				0	0.567								
EGFR	1956	broad.mit.edu	37	7	55214352	55214352	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55214352G>A	ENST00000275493.2	+	4	655	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EGFR_ENST00000344576.2_Missense_Mutation_p.E160K|EGFR_ENST00000420316.2_Missense_Mutation_p.E160K|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Missense_Mutation_p.E160K|EGFR_ENST00000454757.2_Missense_Mutation_p.E107K|EGFR_ENST00000342916.3_Missense_Mutation_p.E160K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	160			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCAACGTGGAGAGCATCCA	0.552		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(478-480)GAG>AAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						116.0	96.0	103.0					7																	55214352		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214352G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.478G>A	7.37:g.55214352G>A	ENSP00000275493:p.Glu160Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.E160K|EGFR_uc003tqi.2_Missense_Mutation_p.E160K|EGFR_uc003tqj.2_Missense_Mutation_p.E160K|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.E107K	p.E160K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	724	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		160			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.478G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576748	0.65878	.	.	ENSG00000146648	ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.6	5.6	0.85130	EGF receptor, L domain (1);	0.530307	0.22622	N	0.057700	T	0.73877	0.3643	L	0.39514	1.22	0.37863	D	0.929789	B;P;P;B	0.43578	0.003;0.811;0.564;0.151	B;B;B;B	0.34489	0.01;0.184;0.171;0.04	T	0.79990	-0.1570	10	0.72032	D	0.01	.	11.6322	0.51183	0.0817:0.0:0.9183:0.0	.	160;160;160;160	P00533;P00533-3;P00533-4;P00533-2	EGFR_HUMAN;.;.;.	K	160;30;160;160;160;160;107;107	ENSP00000342376:E160K;ENSP00000345973:E160K;ENSP00000413843:E160K;ENSP00000275493:E160K;ENSP00000410031:E160K;ENSP00000413354:E107K;ENSP00000395243:E107K	ENSP00000275493:E160K	E	+	1	0	EGFR	55181846	1.000000	0.71417	0.982000	0.44146	0.620000	0.37586	4.133000	0.57983	2.630000	0.89119	0.655000	0.94253	GAG		0.552	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
COL1A2	1278	broad.mit.edu	37	7	94056341	94056341	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:94056341G>C	ENST00000297268.6	+	47	3598	c.3127G>C	c.(3127-3129)Gct>Cct	p.A1043P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1043					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGATCAAGGTGCTCCTGGCTC	0.458										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3127-3129)GCT>CCT		alpha 2 type I collagen precursor	Collagenase(DB00048)						94.0	83.0	86.0					7																	94056341		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94056341G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3127G>C	7.37:g.94056341G>C	ENSP00000297268:p.Ala1043Pro	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.A1043P	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		47	3598	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1043					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3127G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032962	0.19590	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94417	-3.42	5.18	-4.22	0.03800	.	0.314144	0.34411	N	0.003981	D	0.83418	0.5250	N	0.11131	0.1	0.28388	N	0.919216	B	0.02656	0.0	B	0.01281	0.0	T	0.69296	-0.5182	10	0.09843	T	0.71	.	13.5544	0.61751	0.0:0.147:0.1784:0.6746	.	1043	P08123	CO1A2_HUMAN	P	1043;1044	ENSP00000297268:A1043P	ENSP00000297268:A1043P	A	+	1	0	COL1A2	93894277	0.853000	0.29707	0.783000	0.31826	0.949000	0.60115	-0.066000	0.11598	-0.947000	0.03673	-0.181000	0.13052	GCT		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
NPTX2	4885	broad.mit.edu	37	7	98254262	98254262	+	Silent	SNP	G	G	A	rs200093714		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98254262G>A	ENST00000265634.3	+	3	837	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	224					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACCAGATGCGTTCAAGGTGT	0.602																																						uc003upl.2																			0				central_nervous_system(2)|skin(1)	3						c.(670-672)GCG>GCA		neuronal pentraxin II precursor							240.0	195.0	211.0					7																	98254262		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254262G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.672G>A	7.37:g.98254262G>A							p.A224A	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	849	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		224					A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.672G>A	CCDS5657.1																																																																																				0.602	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
TRRAP	8295	broad.mit.edu	37	7	98528341	98528341	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98528341G>T	ENST00000359863.4	+	25	3688	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	TRRAP_ENST00000446306.3_Missense_Mutation_p.G1159V|TRRAP_ENST00000355540.3_Missense_Mutation_p.G1160V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1160					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCTGGGGGGTGTGGTGTCT	0.517																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(3478-3480)GGT>GTT		transformation/transcription domain-associated							142.0	143.0	143.0					7																	98528341		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98528341G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3479G>T	7.37:g.98528341G>T	ENSP00000352925:p.Gly1160Val					TRRAP_uc011kis.1_Missense_Mutation_p.G1160V|TRRAP_uc003upr.2_Missense_Mutation_p.G852V	p.G1160V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		25	3688	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1160					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3479G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.105134|5.105134	0.94245|0.94245	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64260|.	-0.09;-0.09|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76471|0.76471	0.3992|0.3992	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.74794|0.74794	-0.3544|-0.3544	10|5	0.87932|.	D|.	0|.	.|.	19.5973|19.5973	0.95546|0.95546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1160;874;1160|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|L	1160;1160;1158|875	ENSP00000352925:G1160V;ENSP00000347733:G1160V|.	ENSP00000347733:G1160V|.	G|V	+|+	2|1	0|0	TRRAP|TRRAP	98366277|98366277	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.992000|0.992000	0.81027|0.81027	9.802000|9.802000	0.99131|0.99131	2.700000|2.700000	0.92200|0.92200	0.591000|0.591000	0.81541|0.81541	GGT|GTG		0.517	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
IFRD1	3475	broad.mit.edu	37	7	112112859	112112859	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:112112859C>T	ENST00000403825.3	+	11	1470	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	IFRD1_ENST00000535603.1_Silent_p.P353P|IFRD1_ENST00000005558.4_Silent_p.P403P	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	403				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACTTGGACCCCCAGTGATGC	0.353																																						uc003vgh.2																			0				kidney(1)|central_nervous_system(1)	2						c.(1207-1209)CCC>CCT		interferon-related developmental regulator 1							131.0	133.0	132.0					7																	112112859		2203	4300	6503	SO:0001819	synonymous_variant	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112859C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1209C>T	7.37:g.112112859C>T						IFRD1_uc011kmn.1_Silent_p.P353P|IFRD1_uc003vgj.2_Silent_p.P403P|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Silent_p.P353P|IFRD1_uc003vgk.2_Silent_p.P120P	p.P403P	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			12	1652	+			403	LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).				B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	ENST00000403825.3	37	c.1209C>T	CCDS34736.1																																																																																				0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
GIMAP6	474344	broad.mit.edu	37	7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150324938C>T	ENST00000328902.5	-	3	964	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	250						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493																																						uc003whn.2																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(748-750)GAA>AAA		GTPase, IMAP family member 6							143.0	123.0	130.0					7																	150324938		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324938C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.748G>A	7.37:g.150324938C>T	ENSP00000330374:p.Glu250Lys					GIMAP6_uc003whm.2_Missense_Mutation_p.E170K	p.E250K	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1172	-			250					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.748G>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892594	0.33442	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06294	3.32	3.57	1.64	0.23874	.	1.707540	0.04026	N	0.300639	T	0.04092	0.0114	N	0.08118	0	0.09310	N	0.999999	B;P	0.42908	0.31;0.793	B;B	0.40375	0.206;0.327	T	0.38457	-0.9660	10	0.09084	T	0.74	.	9.5429	0.39262	0.0:0.527:0.473:0.0	.	250;170	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	K	250;311	ENSP00000330374:E250K	ENSP00000330374:E250K	E	-	1	0	GIMAP6	149955871	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.134000	0.10436	0.176000	0.19873	-0.211000	0.12701	GAA		0.493	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
AOC1	26	broad.mit.edu	37	7	150558161	150558161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150558161C>T	ENST00000493429.1	+	7	2704	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	AOC1_ENST00000416793.2_Missense_Mutation_p.S726F|AOC1_ENST00000467291.1_Missense_Mutation_p.S707F|AOC1_ENST00000360937.4_Missense_Mutation_p.S707F|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	707					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GAGGACCCCTCCCTGGCATCC	0.622																																						uc003why.1																			0				ovary(2)|breast(2)|skin(2)	6						c.(2119-2121)TCC>TTC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						62.0	72.0	69.0					7																	150558161		2038	4190	6228	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558161C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2120C>T	7.37:g.150558161C>T	ENSP00000418614:p.Ser707Phe					ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	p.S707F	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	6338	+	all_neural(206;0.219)		707					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2120C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484506	0.84854	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	4.84	4.84	0.62591	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.87269	2.87	0.80722	D	1	D;D	0.61697	0.99;0.974	P;P	0.60345	0.873;0.865	T	0.02654	-1.1128	10	0.87932	D	0	-50.3338	15.4653	0.75394	0.0:1.0:0.0:0.0	.	726;707	C9J690;P19801	.;ABP1_HUMAN	F	707;707;707;726;583	ENSP00000418614:S707F;ENSP00000418328:S707F;ENSP00000354193:S707F;ENSP00000411613:S726F	ENSP00000354193:S707F	S	+	2	0	ABP1	150189094	1.000000	0.71417	0.542000	0.28115	0.952000	0.60782	7.421000	0.80204	2.236000	0.73375	0.305000	0.20034	TCC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
ZMAT4	79698	broad.mit.edu	37	8	40554861	40554861	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:40554861G>T	ENST00000297737.6	-	4	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ZMAT4_ENST00000315769.7_Missense_Mutation_p.F84L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	84						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGCTGAAGTGAATGACATGT	0.498																																						uc003xnr.2																			0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(250-252)TTC>TTA		zinc finger, matrin type 4 isoform a							135.0	119.0	125.0					8																	40554861		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554861G>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.252C>A	8.37:g.40554861G>T	ENSP00000297737:p.Phe84Leu					ZMAT4_uc003xns.2_Missense_Mutation_p.F84L	p.F84L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	398	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	84			Matrin-type 2.		Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.252C>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185350	0.78677	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.33654	1.4;1.4;1.4	6.17	-0.444	0.12245	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.39467	1.215	0.40329	D	0.978907	B;D	0.76494	0.029;0.999	B;D	0.85130	0.111;0.997	T	0.15492	-1.0435	10	0.22109	T	0.4	-28.3397	11.2311	0.48912	0.4481:0.0:0.5519:0.0	.	84;84	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	L	84	ENSP00000319785:F84L;ENSP00000297737:F84L;ENSP00000428423:F84L	ENSP00000297737:F84L	F	-	3	2	ZMAT4	40674018	1.000000	0.71417	0.939000	0.37840	0.933000	0.57130	1.275000	0.33144	-0.273000	0.09246	0.655000	0.94253	TTC		0.498	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
MCM4	4173	broad.mit.edu	37	8	48874694	48874694	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:48874694G>C	ENST00000262105.2	+	3	526	c.317G>C	c.(316-318)gGt>gCt	p.G106A	PRKDC_ENST00000523565.1_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.G106A|PRKDC_ENST00000314191.2_5'Flank|PRKDC_ENST00000338368.3_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	106					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAAGAAGTGGTGTTAGGGGC	0.527																																						uc003xqk.1																			0				ovary(2)|skin(2)	4						c.(316-318)GGT>GCT		minichromosome maintenance complex component 4							67.0	67.0	67.0					8																	48874694		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874694G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.317G>C	8.37:g.48874694G>C	ENSP00000262105:p.Gly106Ala					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.G106A|MCM4_uc011ldi.1_Missense_Mutation_p.G93A|MCM4_uc010lxw.1_Intron	p.G106A	NM_182746	NP_877423	P33991	MCM4_HUMAN			4	412	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	106					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.317G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638817	0.47153	.	.	ENSG00000104738	ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000519170	T;T	0.02787	4.16;4.16	5.18	2.33	0.28932	.	0.095802	0.64402	D	0.000001	T	0.06645	0.0170	M	0.77486	2.375	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.15870	0.014;0.014	T	0.16453	-1.0402	10	0.66056	D	0.02	-13.0978	16.5359	0.84373	0.0:0.3678:0.6322:0.0	.	106;106	B3KMX0;P33991	.;MCM4_HUMAN	A	106;106;106;93;66;56	ENSP00000430194:G106A;ENSP00000262105:G106A	ENSP00000262105:G106A	G	+	2	0	MCM4	49037247	1.000000	0.71417	0.088000	0.20740	0.965000	0.64279	5.620000	0.67736	0.257000	0.21650	0.561000	0.74099	GGT		0.527	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
RPL7	6129	broad.mit.edu	37	8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-	rs556746526	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:74205020_74205022delCTT	ENST00000352983.2	-	2	310_312	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_5'UTR|RDH10_ENST00000240285.5_5'Flank			P18124	RL7_HUMAN	ribosomal protein L7	9	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414														4	0.000798722	0.0	0.0	5008	,	,		22796	0.0		0.002	False		,,,				2504	0.002					uc003xzg.2																			0					0						c.(25-27)AAGdel		ribosomal protein L7				1,4257		0,1,2128						-2.6	0.9			58	20,8230		0,20,4105	no	coding	RPL7	NM_000971.3		0,21,6233	A1A1,A1R,RR		0.2424,0.0235,0.1679				21,12487				SO:0001651	inframe_deletion	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205020_74205022delCTT	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.25_27delAAG	8.37:g.74205026_74205028delCTT	ENSP00000339795:p.Lys9del					RPL7_uc003xzh.1_5'UTR|RDH10_uc003xzi.2_5'Flank	p.K9del	NM_000971	NP_000962	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	47_49	-	Breast(64;0.0954)		9			1.|4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	In_Frame_Del	DEL	ENST00000352983.2	37	c.25_27delAAG	CCDS6212.1																																																																																				0.414	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971	
VPS13B	157680	broad.mit.edu	37	8	100568723	100568723	+	Silent	SNP	C	C	T	rs543837370		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:100568723C>T	ENST00000358544.2	+	31	4977	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	VPS13B_ENST00000357162.2_Silent_p.I1597I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1622					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCAGAAATCGAAGACAGAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19826	0.0		0.0	False		,,,				2504	0.0				Colon(161;2205 2542 7338 31318)	uc003yiv.2																			0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4864-4866)ATC>ATT		vacuolar protein sorting 13B isoform 5							68.0	64.0	66.0					8																	100568723		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100568723C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4866C>T	8.37:g.100568723C>T						VPS13B_uc003yiw.2_Silent_p.I1597I	p.I1622I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4977	+	Breast(36;3.73e-07)		1622					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.4866C>T	CCDS6280.1																																																																																				0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
CSMD3	114788	broad.mit.edu	37	8	113702122	113702122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:113702122C>T	ENST00000297405.5	-	14	2374	c.2130G>A	c.(2128-2130)tgG>tgA	p.W710*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W710*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W606*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W670*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	710	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTGCAGACCATTGGTTAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2128-2130)TGG>TGA		CUB and Sushi multiple domains 3 isoform 1							142.0	138.0	140.0					8																	113702122		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113702122C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2130G>A	8.37:g.113702122C>T	ENSP00000297405:p.Trp710*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W606*	p.W710*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			14	2289	-			710			Extracellular (Potential).|Sushi 3.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2130G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	43	10.523089	0.99421	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	.	.	.	X	670;710;50;606;710	.	ENSP00000297405:W710X	W	-	3	0	CSMD3	113771298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.688000	0.91661	0.650000	0.86243	TGG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
DENND4C	55667	broad.mit.edu	37	9	19360386	19360386	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:19360386A>G	ENST00000380432.2	+	24	4483	c.4450A>G	c.(4450-4452)Atc>Gtc	p.I1484V	DENND4C_ENST00000602925.1_Missense_Mutation_p.I1720V|DENND4C_ENST00000434457.2_Missense_Mutation_p.I1769V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1484					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCAACATCCAATCATTTTCTG	0.388																																						uc003znq.2																			0				ovary(1)|skin(1)	2						c.(4450-4452)ATC>GTC		DENN/MADD domain containing 4C							178.0	164.0	169.0					9																	19360386		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360386A>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4450A>G	9.37:g.19360386A>G	ENSP00000369797:p.Ile1484Val					DENND4C_uc011lnc.1_Missense_Mutation_p.I814V|DENND4C_uc011lnd.1_Missense_Mutation_p.I772V|DENND4C_uc003znr.2_Missense_Mutation_p.I772V|DENND4C_uc003zns.2_Missense_Mutation_p.I666V	p.I1484V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			24	4483	+			1484					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4450A>G		.	.	.	.	.	.	.	.	.	.	A	25.8	4.676766	0.88445	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.32753	1.44;1.44	5.89	5.89	0.94794	.	0.092414	0.64402	D	0.000001	T	0.56891	0.2016	M	0.75264	2.295	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.91635	0.999;0.993;0.984	T	0.57353	-0.7826	9	.	.	.	-11.6964	16.3127	0.82898	1.0:0.0:0.0:0.0	.	814;666;1484	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	V	1484;957;666;814;957;666;481	ENSP00000305795:I957V;ENSP00000443804:I814V	.	I	+	1	0	DENND4C	19350386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.313000	0.96297	2.246000	0.74042	0.533000	0.62120	ATC		0.388	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
C9orf84	158401	broad.mit.edu	37	9	114462255	114462255	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:114462255G>A	ENST00000318737.4	-	22	3098	c.2970C>T	c.(2968-2970)aaC>aaT	p.N990N	C9orf84_ENST00000394779.3_Silent_p.N951N|C9orf84_ENST00000374287.3_Silent_p.N990N|C9orf84_ENST00000394777.4_Silent_p.N916N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	990										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTTCAGAGTTTAGCCCAA	0.313																																						uc004bfr.2																			0				ovary(2)	2						c.(2968-2970)AAC>AAT		hypothetical protein LOC158401 isoform 1							108.0	113.0	111.0					9																	114462255		2203	4298	6501	SO:0001819	synonymous_variant	158401							g.chr9:114462255G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2970C>T	9.37:g.114462255G>A						C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.N951N|C9orf84_uc010mug.2_Silent_p.N901N	p.N990N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			22	3105	-			990					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.2970C>T	CCDS6781.3																																																																																				0.313	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
P2RY8	286530	broad.mit.edu	37	X	1584686	1584686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:1584686C>T	ENST00000381297.4	-	2	976	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GCCAGGAGCACGAAGTTGTTG	0.647			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		0				lung(5)	5						c.(766-768)GTG>ATG		G-protein coupled purinergic receptor P2Y8							72.0	68.0	69.0					X																	1584686		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584686C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.766G>A	X.37:g.1584686C>T	ENSP00000370697:p.Val256Met						p.V256M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	1014	-		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)	256			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000381297.4	37	c.766G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	10.86	1.469284	0.26423	.	.	ENSG00000182162	ENST00000381297	T	0.73469	-0.75	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.235347	0.27618	U	0.018564	T	0.65943	0.2740	N	0.16567	0.415	0.09310	N	1	D	0.71674	0.998	P	0.57371	0.819	T	0.54616	-0.8267	10	0.33141	T	0.24	.	5.977	0.19385	0.0:0.7111:0.0:0.2889	.	256	Q86VZ1	P2RY8_HUMAN	M	256	ENSP00000370697:V256M	ENSP00000370697:V256M	V	-	1	0	P2RY8	1544686	0.999000	0.42202	0.984000	0.44739	0.686000	0.39977	0.937000	0.28951	1.007000	0.39238	0.279000	0.19357	GTG		0.647	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
FOXR2	139628	broad.mit.edu	37	X	55650462	55650462	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:55650462C>T	ENST00000339140.3	+	1	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542																																						uc004duo.2																			0				lung(2)|central_nervous_system(1)	3						c.(316-318)AAC>AAT		forkhead box R2							67.0	61.0	63.0					X																	55650462		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650462C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.318C>T	X.37:g.55650462C>T							p.N106N	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	630	+			106						Silent	SNP	ENST00000339140.3	37	c.318C>T	CCDS35308.1																																																																																				0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
MUM1L1	139221	broad.mit.edu	37	X	105450617	105450617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:105450617delT	ENST00000357175.2	+	4	1841	c.1192delT	c.(1192-1194)tttfs	p.F398fs	MUM1L1_ENST00000372552.1_Frame_Shift_Del_p.F398fs|MUM1L1_ENST00000337685.2_Frame_Shift_Del_p.F398fs	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	398	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTCTGGTTTAAATATCA	0.358																																						uc004emf.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1192-1194)TTTfs		melanoma associated antigen (mutated) 1-like 1							41.0	35.0	37.0					X																	105450617		1844	4078	5922	SO:0001589	frameshift_variant	139221							g.chrX:105450617delT	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1192delT	X.37:g.105450617delT	ENSP00000349699:p.Phe398fs					MUM1L1_uc004emg.1_Frame_Shift_Del_p.F398fs	p.F398fs	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1841	+			398			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Frame_Shift_Del	DEL	ENST00000357175.2	37	c.1192delT	CCDS55469.1																																																																																				0.358	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
AGTR2	186	broad.mit.edu	37	X	115304521	115304521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:115304521C>T	ENST00000371906.4	+	3	1178	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	330					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	ACAGAAGCTCCGCAGTGTGTT	0.463																																						uc004eqh.3																			0				ovary(2)|lung(1)	3						c.(988-990)CGC>TGC		angiotensin II receptor, type 2							146.0	135.0	139.0					X																	115304521		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304521C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.988C>T	X.37:g.115304521C>T	ENSP00000360973:p.Arg330Cys						p.R330C	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	1195	+			330			Cytoplasmic (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.988C>T	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449517	0.43531	.	.	ENSG00000180772	ENST00000371906	T	0.40476	1.03	4.63	4.63	0.57726	.	0.362283	0.27076	N	0.021053	T	0.38108	0.1028	N	0.14661	0.345	0.49130	D	0.999754	D	0.71674	0.998	P	0.58391	0.838	T	0.15809	-1.0424	10	0.37606	T	0.19	-5.5253	9.1105	0.36725	0.2175:0.7825:0.0:0.0	.	330	P50052	AGTR2_HUMAN	C	330	ENSP00000360973:R330C	ENSP00000360973:R330C	R	+	1	0	AGTR2	115218549	0.975000	0.34042	1.000000	0.80357	0.996000	0.88848	2.741000	0.47426	2.129000	0.65627	0.506000	0.49869	CGC		0.463	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
MAGEC3	139081	broad.mit.edu	37	X	140966989	140966989	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:140966989G>C	ENST00000298296.1	+	3	287	c.287G>C	c.(286-288)gGt>gCt	p.G96A	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	96										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTCCCCAGGTTTACAACTT	0.582																																						uc011mwp.1																			0				skin(2)|central_nervous_system(1)	3						c.(286-288)GGT>GCT		melanoma antigen family C, 3 isoform 1							19.0	18.0	19.0					X																	140966989		2203	4296	6499	SO:0001583	missense	139081							g.chrX:140966989G>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.287G>C	X.37:g.140966989G>C	ENSP00000298296:p.Gly96Ala						p.G96A	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			3	287	+	Acute lymphoblastic leukemia(192;6.56e-05)		96					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.287G>C	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	A	3.233	-0.157109	0.06544	.	.	ENSG00000165509	ENST00000298296	T	0.07114	3.22	1.86	-0.958	0.10347	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42932	-0.9422	9	0.31617	T	0.26	.	2.2322	0.03999	0.3683:0.0:0.3738:0.258	.	96	Q8TD91	MAGC3_HUMAN	A	96	ENSP00000298296:G96A	ENSP00000298296:G96A	G	+	2	0	MAGEC3	140794655	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.369000	0.07533	-0.832000	0.04251	-0.602000	0.04101	GGT		0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:153588445C>T	ENST00000369850.3	-	22	3954	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_ENST00000360319.4_Missense_Mutation_p.V1240M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1240M|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.V1240M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1240					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(3718-3720)GTG>ATG		filamin A, alpha isoform 2							31.0	36.0	34.0					X																	153588445		2034	4140	6174	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588445C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3718G>A	X.37:g.153588445C>T	ENSP00000358866:p.Val1240Met					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	3967	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1240			Filamin 10.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3718G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366645	0.61513	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.42	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.97732	0.9256	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.969	D	0.98457	1.0594	10	0.87932	D	0	.	11.8792	0.52564	0.0:0.9135:0.0:0.0865	.	1240;1240	P21333-2;P21333	.;FLNA_HUMAN	M	1240;1213;1240;1240;1240	ENSP00000353467:V1240M;ENSP00000416926:V1240M;ENSP00000358866:V1240M;ENSP00000358863:V1240M	ENSP00000358863:V1240M	V	-	1	0	FLNA	153241639	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	4.872000	0.63050	2.046000	0.60703	0.529000	0.55759	GTG		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
PCDH11Y	83259	broad.mit.edu	37	Y	5605460	5605460	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrY:5605460G>T	ENST00000215473.6	+	6	3500	c.3500G>T	c.(3499-3501)aGc>aTc	p.S1167I				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1167					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATGCCACAGCCCACCACTG	0.552																																						uc004fqo.2																			0					0						c.(3499-3501)AGC>ATC		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605460G>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3500G>T	Y.37:g.5605460G>T	ENSP00000215473:p.Ser1167Ile						p.S1167I	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			5	4234	+			1167			Cytoplasmic (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3500G>T																																																																																					0.552	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973	
