#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
CPSF3L	54973	broad.mit.edu	37	1	1248063	1248063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:1248063G>A	ENST00000435064.1	-	13	1394	c.1312C>T	c.(1312-1314)Ccg>Tcg	p.P438S	CPSF3L_ENST00000545578.1_Missense_Mutation_p.P409S|CPSF3L_ENST00000540437.1_Missense_Mutation_p.P444S|CPSF3L_ENST00000450926.2_Missense_Mutation_p.P416S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.P337S|CPSF3L_ENST00000411962.1_Missense_Mutation_p.P340S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.P180S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	438					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCATTGGCCGGCATGTAGCAG	0.716																																						uc001aee.1																			0					0						c.(1312-1314)CCG>TCG		cleavage and polyadenylation specific factor							37.0	41.0	39.0					1																	1248063		2201	4290	6491	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248063G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1312C>T	1.37:g.1248063G>A	ENSP00000413493:p.Pro438Ser					CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.P444S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aej.1_Missense_Mutation_p.P265S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S	p.P438S	NM_017871	NP_060341	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	13	1370	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	438					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1312C>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963339	0.53507	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.51	5.05	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.79475	2.455	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	0.86324	0.1694	10	0.87932	D	0	-33.1706	11.8641	0.52482	0.0848:0.0:0.9152:0.0	.	416;409;340;337;444;438	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	S	438;340;337;444;416;409	ENSP00000413493:P438S;ENSP00000404886:P337S;ENSP00000445001:P444S;ENSP00000392848:P416S;ENSP00000444672:P409S	ENSP00000400548:P340S	P	-	1	0	CPSF3L	1237926	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	8.368000	0.90115	2.349000	0.79799	0.462000	0.41574	CCG		0.716	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	
KIF17	57576	broad.mit.edu	37	1	21014370	21014370	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:21014370G>A	ENST00000247986.2	-	8	1759	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.S483S|KIF17_ENST00000375044.1_Silent_p.S383S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	483					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTACTCAGCGCTGCTGGCAA	0.532																																						uc001bdr.3																			0				ovary(3)|skin(1)	4						c.(1447-1449)AGC>AGT		kinesin family member 17 isoform a							72.0	67.0	69.0					1																	21014370		2200	4297	6497	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014370G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1449C>T	1.37:g.21014370G>A						KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Silent_p.S483S	p.S483S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1567	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	483					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1449C>T	CCDS213.1																																																																																				0.532	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
FOXJ3	22887	broad.mit.edu	37	1	42744223	42744223	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:42744223C>T	ENST00000372572.1	-	5	476	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FOXJ3_ENST00000372573.1_Silent_p.K55K|FOXJ3_ENST00000361346.1_Silent_p.K55K|FOXJ3_ENST00000361776.1_Silent_p.K55K|FOXJ3_ENST00000545068.1_Silent_p.K55K	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	55					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCATTCTTCTTAGAAATTC	0.453																																						uc001che.2																			0				ovary(2)	2						c.(163-165)AAG>AAA		forkhead box J3							208.0	202.0	204.0					1																	42744223		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.chr1:42744223C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.165G>A	1.37:g.42744223C>T						FOXJ3_uc001chf.2_Silent_p.K55K|FOXJ3_uc001chg.2_Silent_p.K55K|FOXJ3_uc001chh.1_Silent_p.K55K	p.K55K	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			5	477	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	55					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.165G>A	CCDS30689.1																																																																																				0.453	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
VCAM1	7412	broad.mit.edu	37	1	101197065	101197066	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:101197065_101197066delTA	ENST00000294728.2	+	6	1617_1618	c.1516_1517delTA	c.(1516-1518)tatfs	p.Y506fs	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y444fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y414fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	506	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAAACACTTTATGTCAATGGT	0.366																																						uc001dti.2																			0				central_nervous_system(1)	1						c.(1516-1518)TATfs		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)																																			SO:0001589	frameshift_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101197065_101197066delTA	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1516_1517delTA	1.37:g.101197065_101197066delTA	ENSP00000294728:p.Tyr506fs					VCAM1_uc001dtj.2_Frame_Shift_Del_p.Y414fs|VCAM1_uc010ouj.1_Frame_Shift_Del_p.Y444fs	p.Y506fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1636_1637	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	506			Ig-like C2-type 5.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Frame_Shift_Del	DEL	ENST00000294728.2	37	c.1516_1517delTA	CCDS773.1																																																																																				0.366	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
IGSF3	3321	broad.mit.edu	37	1	117159063	117159063	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:117159063C>T	ENST00000369486.3	-	3	825	c.60G>A	c.(58-60)caG>caA	p.Q20Q	IGSF3_ENST00000318837.6_Silent_p.Q20Q|IGSF3_ENST00000369483.1_Silent_p.Q20Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	20	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGACCTGCCGCTGTGCTGACA	0.527																																						uc001egr.1																			0				ovary(2)	2						c.(58-60)CAG>CAA		immunoglobulin superfamily, member 3 isoform 2							23.0	23.0	23.0					1																	117159063		2059	4084	6143	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117159063C>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.60G>A	1.37:g.117159063C>T						IGSF3_uc001egq.1_Silent_p.Q20Q	p.Q20Q	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	765	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	20			Ig-like C2-type 1.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.60G>A	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
FLG	2312	broad.mit.edu	37	1	152275657	152275657	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:152275657G>T	ENST00000368799.1	-	3	11740	c.11705C>A	c.(11704-11706)cCc>cAc	p.P3902H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	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)	p.P3902L(1)		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)			AGAGGATCCGGGGTGTCTGGA	0.512									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		autonomic_ganglia(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11704-11706)CCC>CAC		filaggrin							90.0	92.0	91.0					1																	152275657		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.chr1:152275657G>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.11705C>A	1.37:g.152275657G>T	ENSP00000357789:p.Pro3902His						p.P3902H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11741	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11705C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019496	0.19355	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.21	2.21	0.28008	.	.	.	.	.	T	0.01870	0.0059	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	P	0.61722	0.893	T	0.54227	-0.8325	9	0.33141	T	0.24	.	8.0282	0.30448	0.0:0.0:1.0:0.0	.	3902	P20930	FILA_HUMAN	H	3902	ENSP00000357789:P3902H	ENSP00000357789:P3902H	P	-	2	0	FLG	150542281	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	2.522000	0.45572	1.535000	0.49220	0.552000	0.68991	CCC		0.512	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:169698774G>A	ENST00000333360.7	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SELE_ENST00000367782.4_Silent_p.F252F|SELE_ENST00000367780.4_Silent_p.F190F|SELE_ENST00000367781.4_Silent_p.F252F|SELE_ENST00000367775.1_Silent_p.F190F|SELE_ENST00000367777.1_Silent_p.F252F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Silent_p.F252F|SELE_ENST00000367774.1_Silent_p.F252F|SELE_ENST00000367779.4_Silent_p.F252F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	252	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.F252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACATTCCACGAACCCATTGG	0.428																																						uc001ggm.3																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|skin(2)	5						c.(754-756)TTC>TTT		selectin E precursor							118.0	112.0	114.0					1																	169698774		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698774G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.756C>T	1.37:g.169698774G>A						C1orf112_uc001ggj.2_Intron	p.F252F	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	913	-	all_hematologic(923;0.208)		252			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.756C>T	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
CCNY	219771	broad.mit.edu	37	10	35819172	35819172	+	Splice_Site	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:35819172G>A	ENST00000374704.4	+	7	759		c.e7+1		CCNY_ENST00000374706.1_Splice_Site|CCNY_ENST00000492478.1_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000339497.5_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGTCACCCTGGTGAGTGCCCT	0.577																																						uc001iyw.3																			0					0						c.e7+1		cyclin Y isoform 1							80.0	55.0	63.0					10																	35819172		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35819172G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.579+1G>A	10.37:g.35819172G>A						CCNY_uc001iyu.3_Splice_Site_p.L139_splice|CCNY_uc001iyv.3_Splice_Site_p.L139_splice|CCNY_uc001iyx.3_Splice_Site_p.L139_splice|CCNY_uc009xmb.2_Splice_Site_p.L168_splice|CCNY_uc010qet.1_Splice_Site_p.L60_splice	p.L193_splice	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN			7	759	+								B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37	c.579_splice	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674910	0.88445	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNY	35859178	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.864000	0.99589	2.794000	0.96219	0.655000	0.94253	.		0.577	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Intron
PTEN	5728	broad.mit.edu	37	10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	rs398123329		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:89720679C>T	ENST00000371953.3	+	8	2187	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	277	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.T277I(1)|p.W274_F341del(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)		TGGGTAAATACATTCTTCATA	0.284		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(2)|Unknown(2)|Substitution - Missense(1)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277I(1)|p.W274_F341del(1)|p.T277fs*13(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(829-831)ACA>ATA		phosphatase and tensin homolog							31.0	32.0	32.0					10																	89720679		2196	4284	6480	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.chr10:89720679C>T	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.830C>T	10.37:g.89720679C>T	ENSP00000361021:p.Thr277Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.T277I	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	1861	+		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)	277			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.830C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666335	0.88251	.	.	ENSG00000171862	ENST00000371953	D	0.98419	-4.92	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.86953	2.85	0.80722	D	1	P	0.43788	0.817	B	0.40534	0.332	D	0.98816	1.0745	9	.	.	.	-0.9023	18.5632	0.91108	0.0:1.0:0.0:0.0	.	277	P60484	PTEN_HUMAN	I	277	ENSP00000361021:T277I	.	T	+	2	0	PTEN	89710659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.399000	0.81585	0.591000	0.81541	ACA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
HPS6	79803	broad.mit.edu	37	10	103827534	103827534	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:103827534C>T	ENST00000299238.5	+	1	2388	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	768					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGCACTCCACCCCCGACTCCA	0.592									Hermansky-Pudlak syndrome																													uc001kuj.2																			0					0						c.(2302-2304)CCC>CTC		Hermansky-Pudlak syndrome-6							37.0	40.0	39.0					10																	103827534		2178	4227	6405	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827534C>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2303C>T	10.37:g.103827534C>T	ENSP00000299238:p.Pro768Leu						p.P768L	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	2388	+		Colorectal(252;0.122)	768					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.2303C>T	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658650	0.47467	.	.	ENSG00000166189	ENST00000299238	D	0.83755	-1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90892	0.4762	10	0.87932	D	0	-13.3476	16.1929	0.82005	0.0:1.0:0.0:0.0	.	768	Q86YV9	HPS6_HUMAN	L	768	ENSP00000299238:P768L	ENSP00000299238:P768L	P	+	2	0	HPS6	103817524	1.000000	0.71417	0.993000	0.49108	0.180000	0.23129	6.417000	0.73337	2.584000	0.87258	0.650000	0.86243	CCC		0.592	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
KRTAP5-4	387267	broad.mit.edu	37	11	1643000	1643000	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:1643000C>T	ENST00000399682.1	-	1	368	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAGCCCC	0.682																																						uc009ycy.1																			0					0						c.(460-462)AAG>AAA		keratin associated protein 5-4							7.0	15.0	13.0					11																	1643000		634	1505	2139	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643000C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.324G>A	11.37:g.1643000C>T							p.K154K	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	549	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	168			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.462G>A																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
NAP1L4	4676	broad.mit.edu	37	11	2975821	2975821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:2975821C>T	ENST00000380542.4	-	12	1111	c.971G>A	c.(970-972)cGt>cAt	p.R324H	NAP1L4_ENST00000526115.1_Missense_Mutation_p.R324H	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	324					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TATCCGCTCACGGAAAAAGTG	0.473																																						uc001lxc.2																			0				ovary(1)	1						c.(970-972)CGT>CAT		nucleosome assembly protein 1-like 4							60.0	61.0	61.0					11																	2975821		1876	4098	5974	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975821C>T	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.971G>A	11.37:g.2975821C>T	ENSP00000369915:p.Arg324His					NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.R324H|NAP1L4_uc010qxn.1_Missense_Mutation_p.R324H	p.R324H	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1112	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	324					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.971G>A	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898972	0.91962	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.27720	1.65;1.65	4.63	4.63	0.57726	.	0.054702	0.64402	D	0.000001	T	0.36386	0.0965	M	0.63169	1.94	0.80722	D	1	B;P	0.35328	0.33;0.495	B;B	0.37198	0.169;0.243	T	0.28902	-1.0029	10	0.45353	T	0.12	-12.1517	17.6942	0.88276	0.0:1.0:0.0:0.0	.	324;324	F5HFY4;Q99733	.;NP1L4_HUMAN	H	324	ENSP00000369915:R324H;ENSP00000436397:R324H	ENSP00000369915:R324H	R	-	2	0	NAP1L4	2932397	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.128000	0.77217	2.390000	0.81377	0.650000	0.86243	CGT		0.473	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969	
OR52K1	390036	broad.mit.edu	37	11	4510426	4510426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:4510426G>C	ENST00000307632.3	+	1	318	c.296G>C	c.(295-297)tGt>tCt	p.C99S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTTTGCCTGTCTGGTCCAG	0.502																																						uc001lza.1																			0					0						c.(295-297)TGT>TCT		olfactory receptor, family 52, subfamily K,							105.0	80.0	89.0					11																	4510426		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510426G>C	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.296G>C	11.37:g.4510426G>C	ENSP00000302422:p.Cys99Ser						p.C99S	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	296	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	99			Extracellular (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.296G>C	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654682	0.67472	.	.	ENSG00000196778	ENST00000307632	T	0.00540	6.7	3.95	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.02494	0.0076	H	0.98466	4.24	0.41219	D	0.986493	P	0.45594	0.862	P	0.48627	0.584	T	0.03325	-1.1048	10	0.87932	D	0	.	11.6049	0.51026	0.0916:0.0:0.9084:0.0	.	99	Q8NGK4	O52K1_HUMAN	S	99	ENSP00000302422:C99S	ENSP00000302422:C99S	C	+	2	0	OR52K1	4467002	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.632000	0.83247	1.222000	0.43521	0.508000	0.49915	TGT		0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171	
HTR3A	3359	broad.mit.edu	37	11	113856764	113856764	+	Missense_Mutation	SNP	G	G	A	rs199553305		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:113856764G>A	ENST00000504030.2	+	6	1017	c.572G>A	c.(571-573)cGc>cAc	p.R191H	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191H|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197H|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197H|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176H			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R191H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCTTTGTGGCGCTTGCCAGAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18827	0.0		0.001	False		,,,				2504	0.0					uc010rxb.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(589-591)CGC>CAC		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						196.0	205.0	202.0					11																	113856764		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856764G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.572G>A	11.37:g.113856764G>A	ENSP00000424189:p.Arg191His					HTR3A_uc010rxa.1_Missense_Mutation_p.R197H|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.R176H	p.R197H	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	823	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	191			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.590G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.080083	0.94050	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.86661	0.1904	10	0.44086	T	0.13	-14.1102	18.5998	0.91244	0.0:0.0:1.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	H	191;197;197;191;176	ENSP00000424189:R191H;ENSP00000347754:R197H;ENSP00000364648:R197H;ENSP00000424776:R191H;ENSP00000299961:R176H	ENSP00000299961:R176H	R	+	2	0	HTR3A	113361974	1.000000	0.71417	0.947000	0.38551	0.819000	0.46315	9.688000	0.98670	2.457000	0.83068	0.655000	0.94253	CGC		0.522	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
AMICA1	120425	broad.mit.edu	37	11	118074267	118074267	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:118074267G>A	ENST00000356289.5	-	6	821	c.648C>T	c.(646-648)gaC>gaT	p.D216D	AMICA1_ENST00000526620.1_Silent_p.D177D|AMICA1_ENST00000292067.7_Silent_p.D206D|AMICA1_ENST00000533261.1_Silent_p.D205D	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	216	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGATGGAACCGTCATTGCGGA	0.512																																						uc001psk.2																			0				ovary(1)	1						c.(646-648)GAC>GAT		adhesion molecule, interacts with CXADR antigen							191.0	183.0	186.0					11																	118074267		2200	4296	6496	SO:0001819	synonymous_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118074267G>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.648C>T	11.37:g.118074267G>A						AMICA1_uc001psg.2_Silent_p.D26D|AMICA1_uc001psh.2_Silent_p.D177D|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Silent_p.D206D|AMICA1_uc001psj.2_Silent_p.D205D|AMICA1_uc010rxw.1_Silent_p.D177D|AMICA1_uc010rxx.1_Silent_p.D216D|AMICA1_uc001psl.1_Silent_p.D172D	p.D216D	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	822	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	216			Ig-like V-type 2.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.648C>T	CCDS41723.1																																																																																				0.512	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
LPAR5	57121	broad.mit.edu	37	12	6729601	6729601	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:6729601G>A	ENST00000329858.4	-	2	1570	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R272C	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGATCGCGGGCAGGCACG	0.667																																					NSCLC(74;891 2312 37538)	uc009zer.2																			0				ovary(1)|skin(1)	2						c.(814-816)CGC>TGC		lysophosphatidic acid receptor 5							11.0	11.0	11.0					12																	6729601		2174	4253	6427	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729601G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.814C>T	12.37:g.6729601G>A	ENSP00000327875:p.Arg272Cys					LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C	p.R272C	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN			2	1095	-			272			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000329858.4	37	c.814C>T	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703160	0.30232	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.72167	-0.63;-0.63	4.89	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.377307	0.22478	N	0.059530	T	0.59582	0.2204	L	0.49640	1.575	0.19575	N	0.999964	B	0.30511	0.282	B	0.19148	0.024	T	0.56080	-0.8038	10	0.56958	D	0.05	.	8.2077	0.31465	0.0787:0.0:0.7633:0.158	.	272	Q9H1C0	LPAR5_HUMAN	C	272	ENSP00000327875:R272C;ENSP00000393098:R272C	ENSP00000327875:R272C	R	-	1	0	LPAR5	6599862	0.001000	0.12720	0.753000	0.31225	0.307000	0.27823	1.006000	0.29847	1.252000	0.44001	0.491000	0.48974	CGC		0.667	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400	
PTPN6	5777	broad.mit.edu	37	12	7069104	7069104	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:7069104G>A	ENST00000318974.9	+	12	1620	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPN6_ENST00000399448.1_Missense_Mutation_p.R461H|PTPN6_ENST00000456013.1_Missense_Mutation_p.R459H|PTPN6_ENST00000539029.1_3'UTR|PTPN6_ENST00000447931.2_Missense_Mutation_p.R420H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	459	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCATCGGCCGCACAGGCACC	0.672																																						uc001qsb.2																			0				breast(1)	1						c.(1375-1377)CGC>CAC		protein tyrosine phosphatase, non-receptor type							80.0	85.0	84.0					12																	7069104		1911	4109	6020	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7069104G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1376G>A	12.37:g.7069104G>A	ENSP00000326010:p.Arg459His					PTPN6_uc001qsa.1_Missense_Mutation_p.R461H|PTPN6_uc010sfr.1_Missense_Mutation_p.R420H|PTPN6_uc009zfl.1_Missense_Mutation_p.R459H|PTPN6_uc010sfs.1_Missense_Mutation_p.R447H	p.R459H	NM_002831	NP_002822	P29350	PTN6_HUMAN			12	1618	+			459			Tyrosine-protein phosphatase.|Substrate binding (By similarity).		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.1376G>A	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456835	0.84317	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	4.25	4.25	0.50352	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.997;0.998;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	16.8568	0.86008	0.0:0.0:1.0:0.0	.	447;420;459;459;461	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	461;420;459;459	ENSP00000382376:R461H;ENSP00000415979:R420H;ENSP00000326010:R459H;ENSP00000391592:R459H	ENSP00000326010:R459H	R	+	2	0	PTPN6	6939365	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.171000	0.94802	2.203000	0.70933	0.561000	0.74099	CGC		0.672	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
KLRC3	3823	broad.mit.edu	37	12	10573119	10573119	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10573119C>A	ENST00000396439.2	-	1	75	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC3_ENST00000381904.2_Missense_Mutation_p.V11L|KLRC3_ENST00000381903.2_Missense_Mutation_p.V11L|NKG2-E_ENST00000539033.1_Intron	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	11					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCCAGACTCACTTCTGAGAAG	0.423																																						uc001qyf.2																			0				ovary(2)|skin(1)	3						c.(31-33)GTG>TTG		killer cell lectin-like receptor subfamily C,							75.0	81.0	79.0					12																	10573119		2202	4299	6501	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10573119C>A	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.31G>T	12.37:g.10573119C>A	ENSP00000379716:p.Val11Leu					KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Missense_Mutation_p.V11L|KLRC3_uc010shc.1_Missense_Mutation_p.V11L|KLRC3_uc010shd.1_Missense_Mutation_p.V11L	p.V11L	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			1	76	-			11			Cytoplasmic (Potential).		Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.31G>T	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.151787	0.00325	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.06933	3.24;3.24;3.24	2.55	-1.85	0.07784	.	0.581086	0.14452	N	0.318745	T	0.01592	0.0051	N	0.00926	-1.1	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.39921	-0.9590	10	0.02654	T	1	.	1.9191	0.03303	0.1311:0.384:0.2983:0.1867	.	11;11	Q07444-2;Q07444	.;NKG2E_HUMAN	L	11	ENSP00000379716:V11L;ENSP00000371329:V11L;ENSP00000371328:V11L	ENSP00000371328:V11L	V	-	1	0	KLRC3	10464386	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.755000	0.04782	-0.460000	0.07003	-1.335000	0.01260	GTG		0.423	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261	
KLRC3	3823	broad.mit.edu	37	12	10588555	10588555	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10588555C>A	ENST00000539033.1	-	1	45	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_ENST00000381901.1_Missense_Mutation_p.V11L|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.V11L																							GCCAGACTCACTTCTGAGAAG	0.423																																						uc001qyh.2																			0				ovary(2)|skin(1)	3						c.(31-33)GTG>TTG		killer cell lectin-like receptor subfamily C,							231.0	216.0	221.0					12																	10588555		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10588555C>A																												ENST00000539033.1:c.31G>T	12.37:g.10588555C>A	ENSP00000437563:p.Val11Leu					KLRC2_uc010she.1_Missense_Mutation_p.V11L|KLRC2_uc001qyk.2_Missense_Mutation_p.V11L	p.V11L	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			1	38	-			11			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000539033.1	37	c.31G>T		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812254	0.00600	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.06933	3.24;3.24;3.24	2.38	-1.51	0.08664	.	0.581086	0.14452	N	0.318745	T	0.01592	0.0051	N	0.00633	-1.31	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.41893	-0.9483	10	0.02654	T	1	.	4.9432	0.13976	0.1492:0.3926:0.4582:0.0	.	11;11	P26717;F5H6K3	NKG2C_HUMAN;.	L	11	ENSP00000437563:V11L;ENSP00000371327:V11L;ENSP00000371326:V11L	ENSP00000371326:V11L	V	-	1	0	KLRC2;RP11-277P12.6	10479822	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.052000	0.14163	-0.545000	0.06224	0.184000	0.17185	GTG		0.423	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1		
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						uc010shk.1																			0					0						c.(688-693)AACAAG>AAG		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del						p.N230del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
ADAMTS20	80070	broad.mit.edu	37	12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:43944924G>A	ENST00000389420.3	-	2	240	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R81C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	81					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617																																						uc010skx.1																			0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(241-243)CGC>TGC		a disintegrin-like and metalloprotease with							104.0	101.0	102.0					12																	43944924		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944924G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.241C>T	12.37:g.43944924G>A	ENSP00000374071:p.Arg81Cys						p.R81C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	241	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	81					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.241C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824769	0.71143	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.07216	3.21;3.21	3.81	2.91	0.33838	Peptidase M12B, propeptide (1);	0.000000	0.37577	N	0.002039	T	0.28995	0.0720	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.18587	-1.0332	10	0.87932	D	0	.	14.0776	0.64900	0.0:0.1525:0.8475:0.0	.	81	P59510	ATS20_HUMAN	C	81	ENSP00000374071:R81C;ENSP00000448341:R81C	ENSP00000374068:R81C	R	-	1	0	ADAMTS20	42231191	1.000000	0.71417	0.992000	0.48379	0.815000	0.46073	3.592000	0.53993	1.160000	0.42584	0.655000	0.94253	CGC		0.617	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
TTC8	123016	broad.mit.edu	37	14	89336533	89336533	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:89336533G>T	ENST00000345383.5	+	10	1094	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	TTC8_ENST00000380656.2_Missense_Mutation_p.R347L|TTC8_ENST00000358622.5_Missense_Mutation_p.R149L|TTC8_ENST00000536576.1_Missense_Mutation_p.R108L|TTC8_ENST00000354441.6_Missense_Mutation_p.R82L|TTC8_ENST00000346301.4_Missense_Mutation_p.R307L|TTC8_ENST00000338104.6_Missense_Mutation_p.R363L	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	373					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATAGCTCTCCGGTTTTACAGG	0.358																																						uc010ath.2																			0					0						c.(1087-1089)CGG>CTG		tetratricopeptide repeat domain 8 isoform B							166.0	158.0	160.0					14																	89336533		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89336533G>T	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1010G>T	14.37:g.89336533G>T	ENSP00000339486:p.Arg337Leu					TTC8_uc001xxl.2_Missense_Mutation_p.R108L|TTC8_uc010ati.2_Missense_Mutation_p.R149L|TTC8_uc001xxm.2_Missense_Mutation_p.R307L|TTC8_uc010atj.2_Missense_Mutation_p.R82L|TTC8_uc001xxi.2_Missense_Mutation_p.R347L|TTC8_uc001xxj.2_Missense_Mutation_p.R337L|TTC8_uc001xxk.2_Missense_Mutation_p.R307L	p.R363L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			11	1222	+			373			TPR 5.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1088G>T	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.005332|5.005332	0.93287|0.93287	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622	.|T;T;T;T;T;T;T	.|0.54279	.|0.7;0.58;0.7;0.7;0.58;0.7;0.7	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73249|0.73249	0.3563|0.3563	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;P;D;P;P	.|0.69078	.|0.996;0.767;0.997;0.91;0.85	.|P;B;D;P;P	.|0.76071	.|0.857;0.177;0.987;0.618;0.463	T|T	0.70317|0.70317	-0.4905|-0.4905	5|10	.|0.34782	.|T	.|0.22	-22.8127|-22.8127	19.6472|19.6472	0.95784|0.95784	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|82;108;373;317;347	.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|.;.;TTC8_HUMAN;.;.	C|L	297|337;108;307;363;82;347;149	.|ENSP00000339486:R337L;ENSP00000445067:R108L;ENSP00000298324:R307L;ENSP00000337653:R363L;ENSP00000346427:R82L;ENSP00000370031:R347L;ENSP00000351439:R149L	.|ENSP00000337653:R363L	G|R	+|+	1|2	0|0	TTC8|TTC8	88406286|88406286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.390000|9.390000	0.97246|0.97246	2.641000|2.641000	0.89580|0.89580	0.555000|0.555000	0.69702|0.69702	GGT|CGG		0.358	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	
DIO3	1735	broad.mit.edu	37	14	102028704	102028704	+	Missense_Mutation	SNP	C	C	T	rs554569043		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:102028704C>T	ENST00000510508.4	+	1	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.R265C			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	291					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGGTTGGAACGCTATGATGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20621	0.0		0.0	False		,,,				2504	0.001					uc010txq.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(793-795)CGC>TGC		deiodinase, iodothyronine, type III							50.0	55.0	54.0					14																	102028704		2069	4193	6262	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028704C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.871C>T	14.37:g.102028704C>T	ENSP00000427336:p.Arg291Cys					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.R265C	NM_001362	NP_001353	P55073	IOD3_HUMAN			2	1017	+		all_neural(303;0.185)	265			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.793C>T	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950859	0.73787	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.34859	1.34;1.34	3.86	2.96	0.34315	.	0.381500	0.20681	U	0.087648	T	0.42854	0.1221	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	T	0.35624	-0.9781	10	0.87932	D	0	.	10.8517	0.46773	0.0:0.9062:0.0:0.0938	.	265	P55073	IOD3_HUMAN	C	265;291	ENSP00000352273:R265C;ENSP00000427336:R291C	ENSP00000352273:R291C	R	+	1	0	DIO3;AL049836.1	101098457	1.000000	0.71417	0.998000	0.56505	0.532000	0.34746	2.855000	0.48333	0.831000	0.34780	0.462000	0.41574	CGC		0.592	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362	
SEPT12	124404	broad.mit.edu	37	16	4836007	4836007	+	Missense_Mutation	SNP	G	G	A	rs199696526	byFrequency	TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:4836007G>A	ENST00000268231.8	-	3	529	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SEPT12_ENST00000396693.5_Missense_Mutation_p.T89M|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589721.1_5'Flank|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	89	Septin-type G.		T -> M (in SPGF10; results in significantly reduced GTP hydrolysis; dbSNP:rs199696526). {ECO:0000269|PubMed:22275165}.		cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCTGCAGCGTCTGGGGTGT	0.637													G|||	2	0.000399361	0.0008	0.0	5008	,	,		11854	0.001		0.0	False		,,,				2504	0.0					uc002cxq.2																			0				skin(1)	1						c.(265-267)ACG>ATG		septin 12 isoform 2							44.0	40.0	42.0					16																	4836007		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4836007G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.266C>T	16.37:g.4836007G>A	ENSP00000268231:p.Thr89Met					SEPT12_uc002cxr.2_Missense_Mutation_p.T89M|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank	p.T89M	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			3	407	-			89				GTP (By similarity).	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.266C>T	CCDS10522.1	59	0.027014652014652016	21	0.042682926829268296	6	0.016574585635359115	11	0.019230769230769232	21	0.027704485488126648	G	17.99	3.522867	0.64747	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.85258	-1.96;0.52	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88594	0.3145	10	0.87932	D	0	.	16.4624	0.84064	0.0:0.0:1.0:0.0	.	89;89	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	M	89	ENSP00000379922:T89M;ENSP00000268231:T89M	ENSP00000268231:T89M	T	-	2	0	SEPT12	4776008	1.000000	0.71417	0.988000	0.46212	0.255000	0.26057	9.509000	0.98002	2.447000	0.82792	0.551000	0.68910	ACG		0.637	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	
ZNF768	79724	broad.mit.edu	37	16	30535933	30535933	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:30535933C>T	ENST00000380412.5	-	2	1703	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ZNF768_ENST00000562803.1_Missense_Mutation_p.E479K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	510					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAAGGCCGCTCGCCACTGTGG	0.701																																						uc002dyk.3																			0					0						c.(1528-1530)GAG>AAG		zinc finger protein 768							40.0	37.0	38.0					16																	30535933		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30535933C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1528G>A	16.37:g.30535933C>T	ENSP00000369777:p.Glu510Lys					ZNF768_uc010vex.1_Missense_Mutation_p.E479K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E479K	p.E510K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	1704	-			510					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1528G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272372	0.59649	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.24350	1.86	4.72	4.72	0.59763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174646	0.27700	N	0.018215	T	0.41719	0.1171	L	0.45137	1.4	0.50632	D	0.99988	D	0.76494	0.999	D	0.64042	0.921	T	0.23691	-1.0181	10	0.56958	D	0.05	-8.8221	16.5926	0.84770	0.0:1.0:0.0:0.0	.	510	Q9H5H4	ZN768_HUMAN	K	510;423	ENSP00000369777:E510K	ENSP00000369777:E510K	E	-	1	0	ZNF768	30443434	0.999000	0.42202	0.985000	0.45067	0.115000	0.19883	3.699000	0.54778	2.470000	0.83445	0.436000	0.28706	GAG		0.701	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:3779601G>A	ENST00000348335.2	-	10	1060	c.912C>T	c.(910-912)gaC>gaT	p.D304D	CAMKK1_ENST00000158166.5_Silent_p.D342D|CAMKK1_ENST00000381769.2_Silent_p.D331D|CAMKK1_ENST00000381771.2_Silent_p.D342D	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612																																						uc002fwt.2																			0				ovary(1)	1						c.(910-912)GAC>GAT		calcium/calmodulin-dependent protein kinase 1							152.0	112.0	125.0					17																	3779601		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779601G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.912C>T	17.37:g.3779601G>A						CAMKK1_uc002fwu.2_Silent_p.D304D|CAMKK1_uc002fwv.2_Silent_p.D342D	p.D304D	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1006	-			304			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.912C>T	CCDS11038.1																																																																																				0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207	
NF1	4763	broad.mit.edu	37	17	29662002	29662002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29662002C>T	ENST00000358273.4	+	40	6342	c.5959C>T	c.(5959-5961)Cag>Tag	p.Q1987*	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1966*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1987					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1987*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGAAAAACAGATGTACCC	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	p.Q1987*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM001261	NF1	M		c.(5959-5961)CAG>TAG		neurofibromin isoform 1							105.0	93.0	97.0					17																	29662002		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29662002C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5959C>T	17.37:g.29662002C>T	ENSP00000351015:p.Gln1987*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q1966*|NF1_uc010cso.2_Nonsense_Mutation_p.Q175*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.Q1987*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6292	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1987					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5959C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	49	15.064586	0.99821	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	1987;1966;1632	.	ENSP00000348498:Q1966X	Q	+	1	0	NF1	26686128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.322000	0.79097	2.620000	0.88729	0.557000	0.71058	CAG		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29667596	29667596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29667596C>A	ENST00000358273.4	+	47	7378	c.6995C>A	c.(6994-6996)tCa>tAa	p.S2332*	NF1_ENST00000417592.2_Nonsense_Mutation_p.S45*|NF1_ENST00000444181.2_Nonsense_Mutation_p.S125*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S2311*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2332					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S2332*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTTGTATTCAGCAGGTACC	0.448			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	p.S2332*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(6994-6996)TCA>TAA		neurofibromin isoform 1							119.0	106.0	111.0					17																	29667596		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667596C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6995C>A	17.37:g.29667596C>A	ENSP00000351015:p.Ser2332*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.S2311*|NF1_uc010cso.2_Nonsense_Mutation_p.S520*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.S2332*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7328	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2332					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6995C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572901	0.96553	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.6524	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	2332;2311;1977;125;45	.	ENSP00000348498:S2311X	S	+	2	0	NF1	26691722	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.240000	0.78192	2.890000	0.99128	0.585000	0.79938	TCA		0.448	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRT37	8688	broad.mit.edu	37	17	39578641	39578641	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:39578641C>T	ENST00000225550.3	-	4	777	c.778G>A	c.(778-780)Gag>Aag	p.E260K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	260	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552																																						uc002hwp.1																			0				skin(1)	1						c.(778-780)GAG>AAG		keratin 37							173.0	167.0	169.0					17																	39578641		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578641C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.778G>A	17.37:g.39578641C>T	ENSP00000225550:p.Glu260Lys					uc002hwo.1_Intron	p.E260K	NM_003770	NP_003761	O76014	KRT37_HUMAN			4	825	-		Breast(137;0.000496)	260			Linker 12.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.778G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	16.69	3.194429	0.58017	.	.	ENSG00000108417	ENST00000225550	D	0.92495	-3.05	5.04	4.08	0.47627	Filament (1);	0.129809	0.34676	N	0.003776	D	0.90686	0.7078	M	0.79693	2.465	0.31013	N	0.718968	B	0.29766	0.256	B	0.29077	0.098	D	0.89223	0.3572	10	0.62326	D	0.03	.	8.3571	0.32338	0.0:0.761:0.1557:0.0833	.	260	O76014	KRT37_HUMAN	K	260	ENSP00000225550:E260K	ENSP00000225550:E260K	E	-	1	0	KRT37	36832167	0.998000	0.40836	0.305000	0.25099	0.737000	0.42083	4.017000	0.57167	1.117000	0.41842	0.655000	0.94253	GAG		0.552	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
CLEC4M	10332	broad.mit.edu	37	19	7831634	7831634	+	Missense_Mutation	SNP	G	G	A	rs371058590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:7831634G>A	ENST00000327325.5	+	5	995	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	CLEC4M_ENST00000595496.1_Missense_Mutation_p.V157I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V271I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V226I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V281I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.V226I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V265I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V242I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V201I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	293	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCACGACTCCGTCACCGCCTG	0.597																																						uc002mih.2																			0				pancreas(1)	1						c.(808-810)GTC>ATC		C-type lectin domain family 4, member M isoform		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	95.0	86.0	89.0		724,805,469,676,601,739,808,793,877	-5.1	0.0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign	242/349,269/376,157/264,226/333,201/233,247/354,270/377,265/297,293/400	7831634	1,13005	2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831634G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.877G>A	19.37:g.7831634G>A	ENSP00000316228:p.Val293Ile					CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.V226I|CLEC4M_uc010dvt.2_Missense_Mutation_p.V247I|CLEC4M_uc010dvs.2_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.1_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.2_Missense_Mutation_p.V201I|CLEC4M_uc002mic.2_Missense_Mutation_p.V265I|CLEC4M_uc002mia.2_Missense_Mutation_p.V157I	p.V270I	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			6	926	+			293			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.808G>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	1.325	-0.598356	0.03744	0.0	1.16E-4	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	2.57	-5.14	0.02875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.10078	0.0247	L	0.37800	1.135	0.09310	N	1	B;B;B;B;B;B;B;B	0.21753	0.004;0.008;0.06;0.005;0.002;0.019;0.005;0.019	B;B;B;B;B;B;B;B	0.19391	0.003;0.003;0.025;0.008;0.002;0.008;0.008;0.012	T	0.40683	-0.9550	9	0.12430	T	0.62	.	7.7559	0.28923	0.1522:0.1258:0.7221:0.0	.	242;226;293;281;270;265;157;201	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	I	293;281;271;242;226;293;237	ENSP00000316228:V293I;ENSP00000377680:V281I;ENSP00000248228:V271I;ENSP00000335228:V242I;ENSP00000351954:V226I;ENSP00000349924:V293I	ENSP00000248228:V271I	V	+	1	0	CLEC4M	7737634	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.753000	0.00791	-1.740000	0.01345	-0.358000	0.07595	GTC		0.597	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
NCAN	1463	broad.mit.edu	37	19	19337603	19337603	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:19337603G>C	ENST00000252575.6	+	7	1480	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	461					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CATGGGGGCAGGCACTGCAGC	0.642																																						uc002nlz.2																			0				ovary(4)	4						c.(1381-1383)GGC>CGC		chondroitin sulfate proteoglycan 3 precursor							33.0	32.0	32.0					19																	19337603		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337603G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1381G>C	19.37:g.19337603G>C	ENSP00000252575:p.Gly461Arg					NCAN_uc010ecc.1_Missense_Mutation_p.G25R	p.G461R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1480	+			461					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1381G>C	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510879	0.44660	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.83673	-1.75	4.48	1.09	0.20402	.	0.850231	0.09807	N	0.753286	T	0.67664	0.2917	N	0.14661	0.345	0.09310	N	1	P;B	0.45348	0.856;0.232	B;B	0.43575	0.424;0.206	T	0.56420	-0.7982	10	0.17369	T	0.5	.	5.8111	0.18467	0.3536:0.0:0.6464:0.0	.	475;461	Q4LE67;O14594	.;NCAN_HUMAN	R	475;461	ENSP00000252575:G461R	ENSP00000252575:G461R	G	+	1	0	NCAN	19198603	0.187000	0.23238	0.000000	0.03702	0.009000	0.06853	2.549000	0.45803	0.308000	0.22923	0.491000	0.48974	GGC		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
ACP7	390928	broad.mit.edu	37	19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T	rs560738276		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:39591969C>T	ENST00000331256.5	+	10	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_ENST00000594229.1_Silent_p.N297N	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		339						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CTCGTATGAACGACTGTGGCC	0.597																																						uc002oki.2																			0					0						c.(1015-1017)CGA>TGA		iron/zinc purple acid phosphatase-like protein							99.0	90.0	93.0					19																	39591969		2203	4300	6503	SO:0001587	stop_gained	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591969C>T																												ENST00000331256.5:c.1015C>T	19.37:g.39591969C>T	ENSP00000327557:p.Arg339*					PAPL_uc010egl.2_Silent_p.N297N	p.R339*	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			10	1289	+			339					B2RN68	Nonsense_Mutation	SNP	ENST00000331256.5	37	c.1015C>T	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047387	0.97236	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.18	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2547	8.3784	0.32457	0.1537:0.7641:0.0:0.0822	.	.	.	.	X	339	.	ENSP00000327557:R339X	R	+	1	2	AC011443.1	44283809	0.995000	0.38212	0.082000	0.20525	0.389000	0.30415	1.132000	0.31418	0.734000	0.32515	0.655000	0.94253	CGA		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
APOB	338	broad.mit.edu	37	2	21239331	21239331	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:21239331G>A	ENST00000233242.1	-	21	3439	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1104					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGAGGGCGACCTCAGTAA	0.478																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3310-3312)GTC>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						86.0	83.0	84.0					2																	21239331		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21239331G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3312C>T	2.37:g.21239331G>A							p.V1104V	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3440	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1104					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3312C>T	CCDS1703.1																																																																																				0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CD207	50489	broad.mit.edu	37	2	71058942	71058942	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:71058942C>G	ENST00000410009.3	-	5	771	c.726G>C	c.(724-726)ctG>ctC	p.L242L		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGTTTTATACAGAAACTCCT	0.537																																						uc002shg.2																			0				ovary(1)|lung(1)	2						c.(724-726)CTG>CTC		CD207 antigen, langerin							89.0	91.0	90.0					2																	71058942		1934	4144	6078	SO:0001819	synonymous_variant	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058942C>G	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.726G>C	2.37:g.71058942C>G							p.L242L	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			5	773	-			242			C-type lectin.|Extracellular (Potential).			Silent	SNP	ENST00000410009.3	37	c.726G>C																																																																																					0.537	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.1																			13	Substitution - Missense(13)		kidney(6)|endometrium(4)|prostate(3)		0						c.(2992-2994)ACA>TCA		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_RNA	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		
ZAP70	7535	broad.mit.edu	37	2	98351172	98351172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:98351172G>A	ENST00000264972.5	+	9	1294	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R53H|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R234H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TACCGCATGCGCAAGTATGGC	0.637																																						uc002syd.1																			0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1078-1080)CGC>CAC		zeta-chain associated protein kinase 70kDa							82.0	71.0	75.0					2																	98351172		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351172G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1079G>A	2.37:g.98351172G>A	ENSP00000264972:p.Arg360His					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	p.R360H	NM_001079	NP_001070	P43403	ZAP70_HUMAN			9	1286	+			360			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1079G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558336	0.86231	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62232	0.04;0.04;0.04	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000235	T	0.63965	0.2556	L	0.31526	0.94	0.41929	D	0.990558	D;D	0.76494	0.999;0.995	P;P	0.60068	0.868;0.832	T	0.66618	-0.5878	10	0.72032	D	0.01	.	10.5149	0.44883	0.0883:0.0:0.9117:0.0	.	234;360	P43403-3;P43403	.;ZAP70_HUMAN	H	360;234;53	ENSP00000264972:R360H;ENSP00000411141:R234H;ENSP00000400475:R53H	ENSP00000264972:R360H	R	+	2	0	ZAP70	97717604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.382000	0.52463	2.723000	0.93209	0.655000	0.94253	CGC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
MYO7B	4648	broad.mit.edu	37	2	128342397	128342399	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:128342397_128342399delCAA	ENST00000409816.2	+	13	1631_1633	c.1599_1601delCAA	c.(1597-1602)gccaac>gcc	p.N535del	MYO7B_ENST00000428314.1_In_Frame_Del_p.N535del|MYO7B_ENST00000389524.4_In_Frame_Del_p.N535del			Q6PIF6	MYO7B_HUMAN	myosin VIIB	535	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGTCCATGCCAACAACAAGGCC	0.571																																						uc002top.2																			0				ovary(1)|pancreas(1)	2						c.(1597-1602)GCCAAC>GCC		myosin VIIB																																				SO:0001651	inframe_deletion	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128342397_128342399delCAA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1599_1601delCAA	2.37:g.128342403_128342405delCAA	ENSP00000386461:p.Asn535del						p.N535del	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	14	1652_1654	+	Colorectal(110;0.1)		535			Myosin head-like.		Q14786|Q8TEE1	In_Frame_Del	DEL	ENST00000409816.2	37	c.1599_1601delCAA	CCDS46405.1																																																																																				0.571	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	G	A	rs370909673		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr20:947858G>A	ENST00000217260.4	-	3	464	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_ENST00000400634.2_Missense_Mutation_p.P123L	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	123					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647																																						uc002wej.2																			0					0						c.(367-369)CCG>CTG		R-spondin family, member 4 isoform 1 precursor		G	LEU/PRO,LEU/PRO	1,3929		0,1,1964	49.0	50.0	49.0		368,368	5.2	0.9	20		49	0,8334		0,0,4167	no	missense,missense	RSPO4	NM_001029871.3,NM_001040007.2	98,98	0,1,6131	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging,probably-damaging	123/235,123/173	947858	1,12263	1965	4167	6132	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:947858G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.368C>T	20.37:g.947858G>A	ENSP00000217260:p.Pro123Leu					RSPO4_uc002wek.2_Missense_Mutation_p.P123L	p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			3	465	-			123			FU.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.368C>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452693	0.84209	2.54E-4	0.0	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.85861	-2.04;-2.04	5.21	5.21	0.72293	Growth factor, receptor (1);	0.000000	0.64402	D	0.000002	D	0.92381	0.7582	M	0.79475	2.455	0.58432	D	0.999992	D;D	0.89917	0.998;1.0	P;D	0.91635	0.823;0.999	D	0.93277	0.6657	10	0.87932	D	0	-19.4322	17.345	0.87308	0.0:0.0:1.0:0.0	.	123;123	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	L	123	ENSP00000217260:P123L;ENSP00000383475:P123L	ENSP00000217260:P123L	P	-	2	0	RSPO4	895858	1.000000	0.71417	0.945000	0.38365	0.921000	0.55340	7.944000	0.87722	2.432000	0.82394	0.455000	0.32223	CCG		0.647	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816	
POTED	317754	broad.mit.edu	37	21	14982928	14982928	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:14982928G>A	ENST00000299443.5	+	1	431	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	127						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGACCACAGCGCCTTCATGGA	0.597																																						uc002yjb.1																			0				ovary(3)|skin(3)	6						c.(379-381)GCC>ACC		pote protein							35.0	53.0	50.0					21																	14982928		824	3155	3979	SO:0001583	missense	317754					plasma membrane		g.chr21:14982928G>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.379G>A	21.37:g.14982928G>A	ENSP00000299443:p.Ala127Thr						p.A127T	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			1	431	+			127					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.379G>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615356	0.28801	.	.	ENSG00000166351	ENST00000299443	T	0.28069	1.63	1.07	-2.14	0.07123	.	.	.	.	.	T	0.27731	0.0682	L	0.58101	1.795	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.16778	-1.0391	9	0.24483	T	0.36	.	5.8866	0.18884	0.4351:0.0:0.5649:0.0	.	127	Q86YR6	POTED_HUMAN	T	127	ENSP00000299443:A127T	ENSP00000299443:A127T	A	+	1	0	POTED	13904799	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.820000	0.04457	-1.298000	0.02348	-1.109000	0.02080	GCC		0.597	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
PRDM15	63977	broad.mit.edu	37	21	43291677	43291677	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:43291677C>T	ENST00000269844.3	-	4	577	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PRDM15_ENST00000398548.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACCTCATTCCCTAGAGATGT	0.582																																						uc002yzq.1																			0					0						c.(466-468)GGG>GAG		PR domain containing 15 isoform 1							142.0	116.0	124.0					21																	43291677		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43291677C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.467G>A	21.37:g.43291677C>T	ENSP00000269844:p.Gly156Glu					PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	p.G156E	NM_022115	NP_071398	P57071	PRD15_HUMAN			4	578	-			156					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.467G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.692025	0.15039	.	.	ENSG00000141956	ENST00000269844	T	0.12147	2.71	0.941	-8.14E-4	0.14037	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.17433	0.018	T	0.34725	-0.9817	9	0.87932	D	0	.	3.167	0.06539	0.0:0.6788:0.0:0.3212	.	156	P57071	PRD15_HUMAN	E	156	ENSP00000269844:G156E	ENSP00000269844:G156E	G	-	2	0	PRDM15	42164746	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.019000	0.14055	0.313000	0.20887	GGG		0.582	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
MICAL3	57553	broad.mit.edu	37	22	18274039	18274039	+	Silent	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:18274039C>A	ENST00000441493.2	-	30	6031	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1893					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCCTGCATCAGCTTGGGGT	0.632																																						uc002zng.3																			0					0						c.(5677-5679)CTG>CTT		microtubule associated monoxygenase, calponin							84.0	90.0	88.0					22																	18274039		2181	4264	6445	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18274039C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5679G>T	22.37:g.18274039C>A						MICAL3_uc011agl.1_Silent_p.L1809L|MICAL3_uc010grd.1_Silent_p.L9L|MICAL3_uc010gre.1_RNA	p.L1893L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	30	6032	-		all_epithelial(15;0.198)	1893			Potential.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.5679G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091219	0.55968	.	.	ENSG00000093100	ENST00000252134	.	.	.	5.34	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1341	0.20221	0.137:0.6582:0.1324:0.0724	.	.	.	.	L	875	.	.	X	-	2	2	XXbac-B461K10.4	16654039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.936000	0.28938	1.216000	0.43427	0.591000	0.81541	TGA		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
NAGA	4668	broad.mit.edu	37	22	42458930	42458930	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:42458930C>G	ENST00000396398.3	-	7	1390	c.858G>C	c.(856-858)ctG>ctC	p.L286L	NAGA_ENST00000402937.1_Silent_p.L286L|NAGA_ENST00000403363.1_Silent_p.L286L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	286					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGATGGTACGCAGGTCTGTGG	0.557																																						uc003bbx.2																			0				central_nervous_system(1)	1						c.(856-858)CTG>CTC		alpha-N-acetylgalactosaminidase precursor							106.0	92.0	96.0					22																	42458930		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42458930C>G		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.858G>C	22.37:g.42458930C>G						NAGA_uc003bby.2_Silent_p.L286L|NAGA_uc003bbw.3_Silent_p.L286L	p.L286L	NM_000262	NP_000253	P17050	NAGAB_HUMAN			8	995	-			286						Silent	SNP	ENST00000396398.3	37	c.858G>C	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	3.673	-0.067155	0.07273	.	.	ENSG00000198951	ENST00000481068	.	.	.	5.69	0.882	0.19172	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48422	-0.9037	4	.	.	.	-17.7087	8.5366	0.33366	0.1558:0.6088:0.1689:0.0664	.	.	.	.	P	164	.	.	A	-	1	0	NAGA	40788876	0.906000	0.30813	1.000000	0.80357	0.494000	0.33585	0.016000	0.13377	0.333000	0.23563	-1.134000	0.01955	GCG		0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		
PKDREJ	10343	broad.mit.edu	37	22	46655208	46655208	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:46655208T>G	ENST00000253255.5	-	1	4011	c.4012A>C	c.(4012-4014)Act>Cct	p.T1338P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1338	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTCCAAAGTGGTATCAACA	0.398																																						uc003bhh.2																			0				breast(3)|ovary(2)	5						c.(4012-4014)ACT>CCT		receptor for egg jelly-like protein precursor							106.0	98.0	101.0					22																	46655208		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655208T>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4012A>C	22.37:g.46655208T>G	ENSP00000253255:p.Thr1338Pro						p.T1338P	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4012	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1338			Cytoplasmic (Potential).|PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4012A>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778835	0.49891	.	.	ENSG00000130943	ENST00000253255	T	0.64438	-0.1	5.09	1.46	0.22682	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.725719	0.12428	N	0.469771	T	0.48624	0.1510	L	0.28274	0.84	0.21697	N	0.999583	P	0.42584	0.784	P	0.45167	0.472	T	0.30149	-0.9988	10	0.32370	T	0.25	-9.6437	5.5161	0.16908	0.3946:0.4008:0.0:0.2046	.	1338	Q9NTG1	PKDRE_HUMAN	P	1338	ENSP00000253255:T1338P	ENSP00000253255:T1338P	T	-	1	0	PKDREJ	45033872	0.000000	0.05858	0.984000	0.44739	0.822000	0.46500	0.353000	0.20130	0.347000	0.23924	0.418000	0.28097	ACT		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
SCN5A	6331	broad.mit.edu	37	3	38592323	38592323	+	Missense_Mutation	SNP	C	C	T	rs369058100		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:38592323C>T	ENST00000333535.4	-	28	5689	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	SCN5A_ENST00000425664.1_Missense_Mutation_p.R1829H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1829H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1846H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1847H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1846H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1814H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1847	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R1847H(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAATGGATGCGGTCCCCACT	0.557																																						uc003cio.2																			2	Substitution - Missense(2)		prostate(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5539-5541)CGC>CAC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						112.0	120.0	118.0					3																	38592323		2124	4240	6364	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592323C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5540G>A	3.37:g.38592323C>T	ENSP00000328968:p.Arg1847His					SCN5A_uc003cin.2_Missense_Mutation_p.R1846H|SCN5A_uc003cil.3_Missense_Mutation_p.R1847H|SCN5A_uc010hhi.2_Missense_Mutation_p.R1829H|SCN5A_uc010hhk.2_Missense_Mutation_p.R1814H|SCN5A_uc011ayr.1_Missense_Mutation_p.R1793H	p.R1847H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5734	-	Medulloblastoma(35;0.163)		1847					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5540G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448164	0.84101	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96334	-3.88;-3.9;-3.9;-3.97;-3.9;-3.88;-3.9;-3.98;-3.97;-3.97	4.82	4.82	0.62117	.	0.052967	0.64402	D	0.000001	D	0.98083	0.9368	M	0.81497	2.545	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	0.999;0.999;0.998;1.0;0.998;1.0	D;D;D;D;D;D	0.83275	0.949;0.983;0.936;0.99;0.966;0.996	D	0.99063	1.0831	10	0.87932	D	0	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1793;1814;1829;1847;1846;1847	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1829;1846;1847;1793;1846;1829;1847;1814;1793;1793	ENSP00000398962:R1829H;ENSP00000398266:R1846H;ENSP00000410257:R1847H;ENSP00000388797:R1793H;ENSP00000397915:R1846H;ENSP00000416634:R1829H;ENSP00000328968:R1847H;ENSP00000399524:R1814H;ENSP00000403355:R1793H;ENSP00000413996:R1793H	ENSP00000328968:R1847H	R	-	2	0	SCN5A	38567327	0.999000	0.42202	0.958000	0.39756	0.989000	0.77384	4.199000	0.58426	2.504000	0.84457	0.563000	0.77884	CGC		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
MORC1	27136	broad.mit.edu	37	3	108754309	108754309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:108754309C>T	ENST00000483760.1	-	15	1380	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	MORC1_ENST00000232603.5_Missense_Mutation_p.R446K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTAAATTTCTATTATCTTT	0.279																																						uc003dxl.2																			0				ovary(3)|skin(3)|breast(2)	8						c.(1336-1338)AGA>AAA		MORC family CW-type zinc finger 1							32.0	30.0	31.0					3																	108754309		2200	4295	6495	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108754309C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1337G>A	3.37:g.108754309C>T	ENSP00000417282:p.Arg446Lys					MORC1_uc011bhn.1_Missense_Mutation_p.R446K	p.R446K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			15	1424	-			446						Missense_Mutation	SNP	ENST00000483760.1	37	c.1337G>A		.	.	.	.	.	.	.	.	.	.	C	8.690	0.907261	0.17833	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05199	3.48;3.49	4.57	3.69	0.42338	.	0.000000	0.52532	D	0.000076	T	0.04272	0.0118	L	0.29908	0.895	0.26714	N	0.970914	B;B	0.32071	0.355;0.22	B;B	0.29267	0.1;0.074	T	0.37888	-0.9686	10	0.19147	T	0.46	-5.1625	7.8556	0.29480	0.0:0.8901:0.0:0.1099	.	446;446	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	446	ENSP00000232603:R446K;ENSP00000417282:R446K	ENSP00000232603:R446K	R	-	2	0	MORC1	110236999	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.179000	0.42528	2.540000	0.85666	0.591000	0.81541	AGA		0.279	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
BOD1L1	259282	broad.mit.edu	37	4	13606401	13606401	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:13606401G>C	ENST00000040738.5	-	10	2258	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	708	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGTGTTTCAGAATCATCTTT	0.398																																						uc003gmz.1																			0				ovary(5)|breast(1)	6						c.(2122-2124)TCT>TGT		biorientation of chromosomes in cell division							171.0	178.0	176.0					4																	13606401		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606401G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2123C>G	4.37:g.13606401G>C	ENSP00000040738:p.Ser708Cys					BOD1L_uc010idr.1_Missense_Mutation_p.S45C	p.S708C	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2240	-			708			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2123C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923715	0.52653	.	.	ENSG00000038219	ENST00000040738	T	0.08282	3.11	5.71	3.97	0.46021	.	0.151693	0.31404	N	0.007706	T	0.06690	0.0171	L	0.29908	0.895	0.21719	N	0.999573	B	0.28760	0.221	B	0.22386	0.039	T	0.27434	-1.0074	10	0.56958	D	0.05	-4.614	9.9453	0.41604	0.0692:0.2613:0.6695:0.0	.	708	Q8NFC6	BOD1L_HUMAN	C	708	ENSP00000040738:S708C	ENSP00000040738:S708C	S	-	2	0	BOD1L	13215499	0.980000	0.34600	0.999000	0.59377	0.973000	0.67179	2.124000	0.42006	0.747000	0.32809	0.563000	0.77884	TCT		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
SEPSECS	51091	broad.mit.edu	37	4	25125641	25125641	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25125641T>C	ENST00000382103.2	-	11	1490	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Missense_Mutation_p.Y394C	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	473					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AGTTTTGTCATAATTGTCATC	0.378																																						uc003grg.2																			0					0						c.(1417-1419)TAT>TGT		Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	Pyridoxal Phosphate(DB00114)						258.0	229.0	239.0					4																	25125641		2203	4300	6503	SO:0001583	missense	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25125641T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1418A>G	4.37:g.25125641T>C	ENSP00000371535:p.Tyr473Cys					SEPSECS_uc003gri.2_Missense_Mutation_p.Y472C|SEPSECS_uc003grh.2_Missense_Mutation_p.Y394C	p.Y473C	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN			11	1631	-		Breast(46;0.173)	473					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	c.1418A>G	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259370	0.23051	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82433	-1.61;-1.61	5.42	-6.36	0.01969	.	2.139170	0.01780	N	0.031710	T	0.62780	0.2456	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.52472	-0.8571	10	0.48119	T	0.1	-15.1612	3.5411	0.07811	0.1687:0.4362:0.1564:0.2387	.	472;413;473	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	C	394;473	ENSP00000305956:Y394C;ENSP00000371535:Y473C	ENSP00000305956:Y394C	Y	-	2	0	SEPSECS	24734739	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	-0.211000	0.09332	-0.687000	0.05162	0.482000	0.46254	TAT		0.378	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
SLC34A2	10568	broad.mit.edu	37	4	25664233	25664236	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25664233_25664236delAAGT	ENST00000382051.3	+	2	161_162	c.111_112delAAGT	c.(109-114)aaaagt>aagt	p.S38fs	SLC34A2_ENST00000503434.1_Splice_Site_p.S38fs|SLC34A2_ENST00000504570.1_Splice_Site_p.S38fs	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	38					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGACCAACAAAAGTAAGTGTCGCT	0.534			T	ROS1	NSCLC																																	uc003grr.2				Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.e2+1		solute carrier family 34 (sodium phosphate),																																				SO:0001630	splice_region_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664233_25664236delAAGT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.112+1AAGT>-	4.37:g.25664237_25664240delAAGT						SLC34A2_uc003grs.2_Splice_Site_p.N38_splice|SLC34A2_uc010iev.2_Splice_Site_p.N38_splice	p.T38_splice	NM_006424	NP_006415	O95436	NPT2B_HUMAN			2	193	+		Breast(46;0.0503)						A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Splice_Site	DEL	ENST00000382051.3	37	c.112_splice	CCDS3435.1																																																																																				0.534	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	Frame_Shift_Del
RBM47	54502	broad.mit.edu	37	4	40440818	40440818	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:40440818G>A	ENST00000381793.2	-	3	489	c.93C>T	c.(91-93)aaC>aaT	p.N31N	RBM47_ENST00000319592.4_Silent_p.N31N|RBM47_ENST00000295971.7_Silent_p.N31N|RBM47_ENST00000381795.6_Silent_p.N31N|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	31					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGCTGCCTCGTTGGGCGCGC	0.697																																						uc003gvc.2																			0				breast(3)	3						c.(91-93)AAC>AAT		RNA binding motif protein 47 isoform a							8.0	10.0	9.0					4																	40440818		2144	4146	6290	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440818G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.93C>T	4.37:g.40440818G>A						RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	p.N31N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	803	-			31					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.93C>T	CCDS43223.1																																																																																				0.697	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
ADAM29	11086	broad.mit.edu	37	4	175896931	175896931	+	Silent	SNP	C	C	T	rs368770585		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:175896931C>T	ENST00000359240.3	+	5	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	ADAM29_ENST00000445694.1_Silent_p.D85D|ADAM29_ENST00000404450.4_Silent_p.D85D|ADAM29_ENST00000514159.1_Silent_p.D85D|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	85					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D85E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACACAGACCAGGGTGCTA	0.473																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)	p.D85E(1)	lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(253-255)GAC>GAT		ADAM metallopeptidase domain 29 preproprotein							47.0	48.0	47.0					4																	175896931		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896931C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.255C>T	4.37:g.175896931C>T						ADAM29_uc003iud.2_Silent_p.D85D|ADAM29_uc010irr.2_Silent_p.D85D|ADAM29_uc011cki.1_Silent_p.D85D	p.D85D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	925	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	85					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.255C>T	CCDS3823.1																																																																																				0.473	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
SLC6A19	340024	broad.mit.edu	37	5	1208942	1208942	+	Missense_Mutation	SNP	G	G	A	rs201936518		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:1208942G>A	ENST00000304460.10	+	2	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	95					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATCGGGCAGCGGCTGCGGCGG	0.677													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15675	0.0		0.0	False		,,,				2504	0.0					uc003jbw.3																			0					0						c.(283-285)CGG>CAG		solute carrier family 6, member 19							51.0	51.0	51.0					5																	1208942		2203	4299	6502	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208942G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.284G>A	5.37:g.1208942G>A	ENSP00000305302:p.Arg95Gln						p.R95Q	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	340	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		95			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.284G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242080	0.79912	.	.	ENSG00000174358	ENST00000304460	T	0.75367	-0.93	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.89570	0.6753	M	0.94142	3.5	0.58432	D	0.999996	D	0.67145	0.996	D	0.67548	0.952	D	0.93020	0.6439	10	0.87932	D	0	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	95	Q695T7	S6A19_HUMAN	Q	95	ENSP00000305302:R95Q	ENSP00000305302:R95Q	R	+	2	0	SLC6A19	1261942	1.000000	0.71417	0.999000	0.59377	0.217000	0.24651	9.537000	0.98070	2.091000	0.63221	0.485000	0.47835	CGG		0.677	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
BASP1	10409	broad.mit.edu	37	5	17275409	17275409	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:17275409C>T	ENST00000322611.3	+	2	344	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	28					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGGCCGAGGGCGCGGCGACGG	0.627																																						uc003jfx.2																			0					0						c.(82-84)GGC>GGT		brain abundant, membrane attached signal protein							36.0	41.0	40.0					5																	17275409		2199	4294	6493	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275409C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.84C>T	5.37:g.17275409C>T							p.G28G	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	263	+			28					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.84C>T	CCDS3888.1																																																																																				0.627	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2		
HCN1	348980	broad.mit.edu	37	5	45262205	45262205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:45262205C>A	ENST00000303230.4	-	8	2548	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	831					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTCCTGCCCCCTGCCTGA	0.677																																						uc003jok.2																			0				ovary(1)	1						c.(2491-2493)GGC>TGC		hyperpolarization activated cyclic							32.0	36.0	34.0					5																	45262205		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262205C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2491G>T	5.37:g.45262205C>A	ENSP00000307342:p.Gly831Cys						p.G831C	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2516	-			831			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2491G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662166	0.14645	.	.	ENSG00000164588	ENST00000303230	D	0.97328	-4.34	4.88	-0.174	0.13319	.	0.253573	0.31847	N	0.006974	D	0.89047	0.6604	N	0.08118	0	0.21527	N	0.999653	P	0.35527	0.507	B	0.33196	0.159	D	0.84130	0.0411	10	0.51188	T	0.08	.	6.2626	0.20910	0.0:0.3759:0.1298:0.4943	.	831	O60741	HCN1_HUMAN	C	831	ENSP00000307342:G831C	ENSP00000307342:G831C	G	-	1	0	HCN1	45297962	0.001000	0.12720	0.019000	0.16419	0.329000	0.28539	0.358000	0.20216	-0.045000	0.13468	0.655000	0.94253	GGC		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
VCAN	1462	broad.mit.edu	37	5	82808046	82808046	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:82808046T>A	ENST00000265077.3	+	6	1438	c.873T>A	c.(871-873)ttT>ttA	p.F291L	VCAN_ENST00000342785.4_Missense_Mutation_p.F291L|VCAN_ENST00000343200.5_Missense_Mutation_p.F291L|VCAN_ENST00000502527.2_Missense_Mutation_p.F291L|VCAN_ENST00000513984.1_Missense_Mutation_p.F291L|VCAN_ENST00000512590.2_Missense_Mutation_p.F243L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	291	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAACGGCTTTGACCAGTGCG	0.602																																						uc003kii.3																			0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(871-873)TTT>TTA		versican isoform 1 precursor							82.0	71.0	74.0					5																	82808046		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808046T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.873T>A	5.37:g.82808046T>A	ENSP00000265077:p.Phe291Leu					VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.3_Missense_Mutation_p.F291L	p.F291L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1229	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	291			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.873T>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.137821	0.37728	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.49	-5.02	0.02982	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.671931	0.13565	N	0.378508	T	0.03305	0.0096	N	0.05177	-0.1	0.27370	N	0.955708	P;B;B;B;B	0.35575	0.51;0.103;0.021;0.162;0.001	B;B;B;B;B	0.42738	0.396;0.026;0.016;0.253;0.005	T	0.39035	-0.9633	10	0.13470	T	0.59	.	2.9104	0.05734	0.11:0.3385:0.1137:0.4378	.	291;291;291;291;291	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	L	291;291;291;243;291;291;291	ENSP00000265077:F291L;ENSP00000340062:F291L;ENSP00000342768:F291L;ENSP00000425959:F243L;ENSP00000426251:F291L;ENSP00000426715:F291L;ENSP00000421362:F291L	ENSP00000265077:F291L	F	+	3	2	VCAN	82843802	0.003000	0.15002	0.098000	0.21074	0.006000	0.05464	-1.503000	0.02277	-0.863000	0.04084	-0.376000	0.06991	TTT		0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
FNIP1	96459	broad.mit.edu	37	5	131042146	131042146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:131042146C>T	ENST00000510461.1	-	9	967	c.872G>A	c.(871-873)cGc>cAc	p.R291H	FNIP1_ENST00000307954.8_Missense_Mutation_p.R246H|FNIP1_ENST00000307968.7_Missense_Mutation_p.R263H|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.R291H	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	291					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGTTTGGCTGCGTCGCCAACG	0.438																																						uc003kvs.1																			0				pancreas(1)|skin(1)	2						c.(871-873)CGC>CAC		folliculin interacting protein 1 isoform 1							98.0	92.0	94.0					5																	131042146		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131042146C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.872G>A	5.37:g.131042146C>T	ENSP00000421985:p.Arg291His					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.R263H|FNIP1_uc010jdm.1_Missense_Mutation_p.R246H|FNIP1_uc003kvu.2_Missense_Mutation_p.R291H	p.R291H	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	9	1014	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	291					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.872G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656029	0.96724	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.40756	2.03;1.82;1.75;1.02	5.6	5.6	0.85130	.	.	.	.	.	T	0.69967	0.3170	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.998;0.999	T	0.73232	-0.4048	9	0.87932	D	0	-5.6888	19.9737	0.97296	0.0:1.0:0.0:0.0	.	291;291;263;291	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	H	263;246;51;291;291	ENSP00000309266:R263H;ENSP00000310453:R246H;ENSP00000421985:R291H;ENSP00000425619:R291H	ENSP00000310453:R246H	R	-	2	0	FNIP1	131070045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.793000	0.96121	0.591000	0.81541	CGC		0.438	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
PCDHA12	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0					0						c.(1360-1362)GCG>GCA		protocadherin alpha 12 isoform 1 precursor							107.0	108.0	108.0					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256419G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A						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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	p.A454A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+			454			Cadherin 4.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1362G>A	CCDS47285.1																																																																																				0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
JAKMIP2	9832	broad.mit.edu	37	5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A	rs375720289		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:147040668G>A	ENST00000265272.5	-	3	937	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	157						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542																																						uc003loq.1																			0				large_intestine(1)|ovary(1)	2						c.(469-471)GCG>GTG		janus kinase and microtubule interacting protein		G	VAL/ALA	0,4406		0,0,2203	159.0	155.0	157.0		470	4.9	0.9	5		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAKMIP2	NM_014790.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/811	147040668	1,13005	2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040668G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.470C>T	5.37:g.147040668G>A	ENSP00000265272:p.Ala157Val					JAKMIP2_uc011dbx.1_Missense_Mutation_p.A115V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A157V|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.A157V	p.A157V	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	852	-			157			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.470C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669603	0.29693	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.07908	3.15;3.15;3.15	4.95	4.95	0.65309	.	0.471751	0.24786	N	0.035612	T	0.06872	0.0175	N	0.22421	0.69	0.40941	D	0.984467	B;B;B;B	0.30824	0.296;0.104;0.104;0.104	B;B;B;B	0.21708	0.036;0.036;0.036;0.016	T	0.43972	-0.9358	10	0.19147	T	0.46	.	19.0736	0.93150	0.0:0.0:1.0:0.0	.	115;157;157;157	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	157;157;115;157	ENSP00000421398:A157V;ENSP00000265272:A157V;ENSP00000328989:A115V	ENSP00000265272:A157V	A	-	2	0	JAKMIP2	147020861	0.999000	0.42202	0.886000	0.34754	0.096000	0.18686	6.722000	0.74735	2.675000	0.91044	0.655000	0.94253	GCG		0.542	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
COL23A1	91522	broad.mit.edu	37	5	177690250	177690250	+	Missense_Mutation	SNP	C	C	T	rs371953467		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:177690250C>T	ENST00000390654.3	-	9	955	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL23A1_ENST00000407622.1_Missense_Mutation_p.D164N	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	200	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCAGTGTCGCCAGGAGGG	0.637																																						uc003mje.2																			0				central_nervous_system(1)|skin(1)	2						c.(598-600)GAC>AAC		collagen, type XXIII, alpha 1		C	ASN/ASP	0,3766		0,0,1883	32.0	34.0	34.0		598	3.6	1.0	5		34	1,8189		0,1,4094	no	missense	COL23A1	NM_173465.3	23	0,1,5977	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	200/541	177690250	1,11955	1883	4095	5978	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177690250C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.598G>A	5.37:g.177690250C>T	ENSP00000375069:p.Asp200Asn					COL23A1_uc010jkt.2_Silent_p.A47A	p.D200N	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	9	956	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	200			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.598G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170642	0.38315	0.0	1.22E-4	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.94232	-3.38;-3.23	4.48	3.61	0.41365	.	0.074845	0.52532	D	0.000076	D	0.86928	0.6051	L	0.27053	0.805	0.33747	D	0.620208	P	0.34837	0.472	B	0.37780	0.258	D	0.84778	0.0771	10	0.19147	T	0.46	-11.702	8.4698	0.32977	0.0:0.8901:0.0:0.1099	.	200	Q86Y22	CONA1_HUMAN	N	200;164	ENSP00000375069:D200N;ENSP00000385092:D164N	ENSP00000375069:D200N	D	-	1	0	COL23A1	177622856	0.874000	0.30092	1.000000	0.80357	0.757000	0.42996	1.645000	0.37238	0.889000	0.36185	0.313000	0.20887	GAC		0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	
RNF8	9025	broad.mit.edu	37	6	37336605	37336605	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:37336605G>A	ENST00000373479.4	+	3	779	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.A196T	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	196					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGTGAAGTGGCCAGTACACC	0.483																																						uc003onq.3																			0				ovary(1)	1						c.(586-588)GCC>ACC		ring finger protein 8 isoform 1							81.0	81.0	81.0					6																	37336605		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336605G>A	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.586G>A	6.37:g.37336605G>A	ENSP00000362578:p.Ala196Thr					RNF8_uc003onr.3_Missense_Mutation_p.A196T|RNF8_uc011dtx.1_Missense_Mutation_p.A128T	p.A196T	NM_003958	NP_003949	O76064	RNF8_HUMAN			3	779	+			196					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.586G>A	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	6.832	0.522646	0.13066	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.83591	-1.74;0.71;0.8	5.93	-6.62	0.01813	.	1.151050	0.06462	N	0.729567	T	0.46698	0.1406	M	0.62723	1.935	0.21220	N	0.999755	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.44097	-0.9350	10	0.07325	T	0.83	2.5868	0.2061	0.00150	0.2807:0.1748:0.1882:0.3563	.	139;196	C9J858;O76064	.;RNF8_HUMAN	T	196;139;196	ENSP00000362578:A196T;ENSP00000417736:A139T;ENSP00000418879:A196T	ENSP00000362578:A196T	A	+	1	0	RNF8	37444583	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.394000	0.07296	-1.539000	0.01732	-0.848000	0.03037	GCC		0.483	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2		
PEX6	5190	broad.mit.edu	37	6	42937419	42937419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:42937419G>A	ENST00000304611.8	-	5	1423	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	PEX6_ENST00000244546.4_Missense_Mutation_p.R452C	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	452					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGCTGGAGGCGAGGCTTCAGG	0.567																																						uc003otf.2																			0				ovary(1)	1						c.(1354-1356)CGC>TGC		peroxisomal biogenesis factor 6							62.0	62.0	62.0					6																	42937419		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42937419G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1354C>T	6.37:g.42937419G>A	ENSP00000303511:p.Arg452Cys					PEX6_uc010jya.2_RNA	p.R452C	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		5	1447	-			452					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1354C>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016630	0.54468	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.78246	-1.16;-1.16	5.35	5.35	0.76521	.	0.346474	0.36482	N	0.002577	T	0.49218	0.1544	N	0.14661	0.345	0.39504	D	0.968259	B	0.12630	0.006	B	0.08055	0.003	T	0.54549	-0.8277	10	0.59425	D	0.04	-14.1755	11.6995	0.51562	0.0828:0.0:0.9172:0.0	.	452	Q13608	PEX6_HUMAN	C	452	ENSP00000303511:R452C;ENSP00000244546:R452C	ENSP00000244546:R452C	R	-	1	0	PEX6	43045397	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.454000	0.60068	2.676000	0.91093	0.655000	0.94253	CGC		0.567	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
RFX6	222546	broad.mit.edu	37	6	117243268	117243268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:117243268C>A	ENST00000332958.2	+	13	1407	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	464					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGTGGAGGCTTTTATTGAA	0.338																																						uc003pxm.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(1390-1392)GCT>GAT		regulatory factor X, 6							103.0	107.0	106.0					6																	117243268		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117243268C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1391C>A	6.37:g.117243268C>A	ENSP00000332208:p.Ala464Asp						p.A464D	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			13	1454	+			464					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1391C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651365	0.67472	.	.	ENSG00000185002	ENST00000332958	T	0.55588	0.51	5.19	5.19	0.71726	.	0.055188	0.85682	D	0.000000	T	0.27629	0.0679	N	0.22421	0.69	0.50632	D	0.999889	P	0.37914	0.611	B	0.33750	0.169	T	0.14504	-1.0470	10	0.40728	T	0.16	-16.4602	18.729	0.91728	0.0:1.0:0.0:0.0	.	464	Q8HWS3	RFX6_HUMAN	D	464	ENSP00000332208:A464D	ENSP00000332208:A464D	A	+	2	0	RFX6	117349961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.434000	0.82447	0.585000	0.79938	GCT		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
PTPRK	5796	broad.mit.edu	37	6	128388894	128388894	+	Missense_Mutation	SNP	T	T	C	rs370400586		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:128388894T>C	ENST00000368215.3	-	12	1926	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	PTPRK_ENST00000368210.3_Missense_Mutation_p.K643E|PTPRK_ENST00000368226.4_Missense_Mutation_p.K643E|PTPRK_ENST00000368227.3_Missense_Mutation_p.K643E|PTPRK_ENST00000368213.5_Missense_Mutation_p.K643E|PTPRK_ENST00000368207.3_Missense_Mutation_p.K643E|PTPRK_ENST00000532331.1_Missense_Mutation_p.K643E|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	643	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.	Cleavage. {ECO:0000305}.			cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTTCTCTCTTGGTTCGGTGT	0.448																																						uc003qbk.2																			0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1927-1929)AAG>GAG		protein tyrosine phosphatase, receptor type, K		T	GLU/LYS,GLU/LYS	0,4406		0,0,2203	72.0	78.0	76.0		1927,1927	5.9	1.0	6		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	643/1447,643/1441	128388894	1,13005	2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388894T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1927A>G	6.37:g.128388894T>C	ENSP00000357198:p.Lys643Glu					PTPRK_uc003qbj.2_Missense_Mutation_p.K643E|PTPRK_uc010kfc.2_Missense_Mutation_p.K643E|PTPRK_uc011ebu.1_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	p.K643E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2294	-			643			Extracellular (Potential).|Fibronectin type-III 4.	Cleavage (Probable).	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1927A>G		.	.	.	.	.	.	.	.	.	.	T	15.68	2.906282	0.52333	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08720	3.08;3.07;3.07;3.09;3.07;3.09;3.06	5.93	5.93	0.95920	.	0.169045	0.52532	D	0.000067	T	0.04407	0.0121	L	0.32530	0.975	0.54753	D	0.999983	B;P;P;P;B;B	0.41008	0.256;0.616;0.735;0.486;0.083;0.135	B;B;B;B;B;B	0.38985	0.055;0.15;0.287;0.205;0.027;0.059	T	0.41538	-0.9503	10	0.44086	T	0.13	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	643;643;643;500;643;643	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	E	643;643;643;643;643;643;643;500	ENSP00000357209:K643E;ENSP00000357210:K643E;ENSP00000432973:K643E;ENSP00000357196:K643E;ENSP00000357193:K643E;ENSP00000357198:K643E;ENSP00000357190:K643E	ENSP00000357190:K643E	K	-	1	0	PTPRK	128430587	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.386000	0.52492	2.271000	0.75665	0.533000	0.62120	AAG		0.448	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.F113fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	113						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.45																																						uc003sqi.2																			2	Deletion - Frameshift(2)		ovary(1)|large_intestine(1)	breast(1)|pancreas(1)	2						c.(334-339)CTGTTTfs		zinc finger, DHHC-type containing 4																																				SO:0001589	frameshift_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621848_6621849insT	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.344dupT	7.37:g.6621856_6621856dupT	ENSP00000379934:p.Phe113fs					ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs	p.L112fs	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	6	694_695	+		Ovarian(82;0.232)	112_113			Helical; (Potential).		A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Ins	INS	ENST00000396706.2	37	c.336_337insT	CCDS5352.1																																																																																				0.450	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
TYW1B	441250	broad.mit.edu	37	7	72093938	72093938	+	RNA	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:72093938G>A	ENST00000435769.2	-	0	1674				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCTCGTCCACGTTCCATGCTT	0.522																																						uc011kej.1																			0					0						c.(1549-1551)AAC>AAT		tRNA-yW synthesizing protein 1 homolog B isoform							79.0	93.0	89.0					7																	72093938		692	1589	2281			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093938G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093938G>A						TYW1B_uc011keh.1_Silent_p.N355N|TYW1B_uc011kei.1_Silent_p.N143N	p.N517N	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			15	1710	-			517					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1551C>T																																																																																					0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
ABCB4	5244	broad.mit.edu	37	7	87104766	87104766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:87104766C>T	ENST00000265723.4	-	2	127	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ABCB4_ENST00000545634.1_Missense_Mutation_p.A6T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A6T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A6T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A6T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	6					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCGTTCTTTGCCGCCTCAAGA	0.647																																						uc003uiv.1																			0				ovary(4)|skin(1)|pancreas(1)	6						c.(16-18)GCA>ACA		ATP-binding cassette, subfamily B, member 4							65.0	60.0	62.0					7																	87104766		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104766C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.16G>A	7.37:g.87104766C>T	ENSP00000265723:p.Ala6Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.2_Missense_Mutation_p.A6T	p.A6T	NM_018849	NP_061337	P21439	MDR3_HUMAN			2	92	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		6			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.16G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615048	0.46631	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87103	-2.15;-2.21;-2.19;-2.21;-2.15	3.85	2.97	0.34412	.	.	.	.	.	T	0.70176	0.3194	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23937	0.094;0.041;0.034;0.02	B;B;B;B	0.18561	0.01;0.007;0.022;0.01	T	0.55724	-0.8096	9	0.14252	T	0.57	0.1162	7.0258	0.24940	0.0:0.8748:0.0:0.1252	.	6;6;6;6	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	T	6	ENSP00000352135:A6T;ENSP00000351172:A6T;ENSP00000265723:A6T;ENSP00000392983:A6T;ENSP00000437465:A6T	ENSP00000265723:A6T	A	-	1	0	ABCB4	86942702	0.014000	0.17966	0.003000	0.11579	0.836000	0.47400	0.960000	0.29253	0.834000	0.34852	0.637000	0.83480	GCA		0.647	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ZAN	7455	broad.mit.edu	37	7	100373053	100373053	+	RNA	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100373053C>T	ENST00000348028.3	+	0	6047				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAAAGTGTGCCACCCCGCCA	0.547																																						uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5881-5883)TGC>TGT		zonadhesin isoform 3							63.0	62.0	62.0					7																	100373053		2028	4166	6194			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373053C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373053C>T						ZAN_uc003uwk.2_Silent_p.C1961C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.C48C	p.C1961C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		33	6048	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1961			Extracellular (Potential).|VWFD 3.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.5883C>T																																																																																					0.547	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	broad.mit.edu	37	7	100681607	100681607	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100681607G>C	ENST00000306151.4	+	3	6974	c.6910G>C	c.(6910-6912)Gtt>Ctt	p.V2304L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2304	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACTCCAA	0.473																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6910-6912)GTT>CTT		mucin 17 precursor							225.0	226.0	226.0					7																	100681607		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681607G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6910G>C	7.37:g.100681607G>C	ENSP00000302716:p.Val2304Leu					MUC17_uc010lho.1_RNA	p.V2304L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6963	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2304			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6910G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437238	0.12104	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.438	0.438	0.16560	.	.	.	.	.	T	0.01730	0.0055	N	0.24115	0.695	0.20638	N	0.999877	P	0.50156	0.932	B	0.38954	0.286	T	0.41324	-0.9515	9	0.09338	T	0.73	.	6.7366	0.23413	2.0E-4:0.0:0.9998:0.0	.	2304	Q685J3	MUC17_HUMAN	L	2304	ENSP00000302716:V2304L	ENSP00000302716:V2304L	V	+	1	0	MUC17	100468327	0.001000	0.12720	0.046000	0.18839	0.047000	0.14425	-0.479000	0.06567	0.494000	0.27859	0.134000	0.15878	GTT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RELN	5649	broad.mit.edu	37	7	103130205	103130205	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:103130205G>A	ENST00000428762.1	-	60	9906	c.9747C>T	c.(9745-9747)tgC>tgT	p.C3249C	RELN_ENST00000424685.2_Silent_p.C3249C|RELN_ENST00000343529.5_Silent_p.C3249C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3249	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTCGTCGCAGATGCAGA	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9745-9747)TGC>TGT		reelin isoform a							70.0	55.0	60.0					7																	103130205		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130205G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9747C>T	7.37:g.103130205G>A						RELN_uc010liz.2_Silent_p.C3249C	p.C3249C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9907	-			3249			EGF-like 8.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9747C>T	CCDS47680.1																																																																																				0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
ADAM7	8756	broad.mit.edu	37	8	24365011	24365012	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:24365011_24365012TC>AA	ENST00000175238.6	+	21	2310_2311	c.2227_2228TC>AA	c.(2227-2229)TCa>AAa	p.S743K	ADAM7_ENST00000520720.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S765K|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	743						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGTAAAGATTCAAGAGGAATC	0.396																																						uc003xeb.2																			0				skin(3)|ovary(1)|kidney(1)	5						c.(2227-2229)TCA>AAA		a disintegrin and metalloproteinase domain 7																																				SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24365011_24365012TC>AA	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	Exception_encountered	8.37:g.24365011_24365012delinsAA	ENSP00000175238:p.Ser743Lys					ADAM7_uc003xec.2_Intron	p.S743K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	21	2340_2341	+		Prostate(55;0.0181)	743			Cytoplasmic (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	DNP	ENST00000175238.6	37	c.2227_2228TC>AA	CCDS6045.1																																																																																				0.396	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	broad.mit.edu	37	8	25158172	25158172	+	Splice_Site	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25158172C>G	ENST00000276440.7	+	9	889	c.845C>G	c.(844-846)aCa>aGa	p.T282R	DOCK5_ENST00000481100.1_Splice_Site_p.T282R	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	282					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGTGTTTACAGTAAGTCCT	0.363																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(844-846)ACA>AGA		dedicator of cytokinesis 5							163.0	145.0	151.0					8																	25158172		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25158172C>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.846+1C>G	8.37:g.25158172C>G						DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.T282R	p.T282R	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	9	982	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	282					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.845C>G	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554975	0.65425	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.17691	2.26;2.26	5.51	4.61	0.57282	.	0.054326	0.64402	D	0.000001	T	0.45796	0.1360	M	0.87180	2.865	0.80722	D	1	P	0.51057	0.941	P	0.61070	0.883	T	0.57165	-0.7858	10	0.87932	D	0	.	16.5133	0.84292	0.0:0.8689:0.131:0.0	.	282	Q9H7D0	DOCK5_HUMAN	R	282	ENSP00000429737:T282R;ENSP00000276440:T282R	ENSP00000276440:T282R	T	+	2	0	DOCK5	25214089	1.000000	0.71417	0.998000	0.56505	0.249000	0.25844	5.988000	0.70579	1.415000	0.47037	0.555000	0.69702	ACA		0.363	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation
EBF2	64641	broad.mit.edu	37	8	25715990	25715990	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25715990G>A	ENST00000520164.1	-	14	1910	c.1373C>T	c.(1372-1374)cCg>cTg	p.P458L	EBF2_ENST00000535548.1_Missense_Mutation_p.P189L|EBF2_ENST00000408929.3_Missense_Mutation_p.P310L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	458	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P458L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - Missense(2)		endometrium(2)	ovary(3)|skin(1)	4						c.(1372-1374)CCG>CTG		early B-cell factor 2							142.0	142.0	142.0					8																	25715990		2043	4197	6240	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715990G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1373C>T	8.37:g.25715990G>A	ENSP00000430241:p.Pro458Leu					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.P458L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1390	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	458			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1373C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009797	0.93346	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.49432	0.78;0.78;0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	P	0.48873	0.593	T	0.70890	-0.4749	10	0.87932	D	0	.	18.0598	0.89373	0.0:0.0:1.0:0.0	.	458	Q9HAK2	COE2_HUMAN	L	458;310;189	ENSP00000430241:P458L;ENSP00000386178:P310L;ENSP00000437909:P189L	ENSP00000386178:P310L	P	-	2	0	EBF2	25771907	1.000000	0.71417	0.950000	0.38849	0.969000	0.65631	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	CCG		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
TRPA1	8989	broad.mit.edu	37	8	72948651	72948651	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:72948651C>A	ENST00000262209.4	-	21	2634	c.2427G>T	c.(2425-2427)tgG>tgT	p.W809C	RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	809					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTAGATAATCCATTCAAGAA	0.363																																						uc003xza.2																			0				ovary(4)|lung(1)|kidney(1)	6						c.(2425-2427)TGG>TGT		ankyrin-like protein 1	Menthol(DB00825)						56.0	57.0	56.0					8																	72948651		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948651C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2427G>T	8.37:g.72948651C>A	ENSP00000262209:p.Trp809Cys					uc011lff.1_Intron|uc003xyy.2_Intron	p.W809C	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2602	-			809			Helical; Name=3; (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2427G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140747	0.37825	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.37584	1.19;1.19	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67043	-0.5770	10	0.54805	T	0.06	-8.9182	17.93	0.88993	0.0:1.0:0.0:0.0	.	809	O75762	TRPA1_HUMAN	C	661;809	ENSP00000428151:W661C;ENSP00000262209:W809C	ENSP00000262209:W809C	W	-	3	0	TRPA1	73111205	1.000000	0.71417	0.958000	0.39756	0.110000	0.19582	5.429000	0.66495	2.218000	0.71995	0.460000	0.39030	TGG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
RIMS2	9699	broad.mit.edu	37	8	104930679	104930679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:104930679C>T	ENST00000436393.2	+	7	1622	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R491*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R538*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R683*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	761					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1381-1383)CGA>TGA		regulating synaptic membrane exocytosis 2							96.0	94.0	95.0					8																	104930679		1808	4085	5893	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104930679C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1381C>T	8.37:g.104930679C>T	ENSP00000390665:p.Arg461*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.2_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	p.R461*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		7	1622	+			761					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.1381C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.504430	0.97620	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.41	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1769	0.54190	0.5881:0.4119:0.0:0.0	.	.	.	.	X	683;714;683;761;74;491;538;491;491;461	.	ENSP00000262231:R538X	R	+	1	2	RIMS2	104999855	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.178000	0.50879	0.889000	0.36185	-0.264000	0.10439	CGA		0.299	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RIMS2	9699	broad.mit.edu	37	8	105264036	105264036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:105264036C>A	ENST00000436393.2	+	28	4333	c.4092C>A	c.(4090-4092)taC>taA	p.Y1364*	RIMS2_ENST00000339750.2_Nonsense_Mutation_p.Y282*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.Y1160*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Y1185*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Y1346*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1408					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCTTCTTACTCTCGTTCAT	0.423										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(4090-4092)TAC>TAA		regulating synaptic membrane exocytosis 2							94.0	92.0	92.0					8																	105264036		1846	4079	5925	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105264036C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4092C>A	8.37:g.105264036C>A	ENSP00000390665:p.Tyr1364*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.Y1346*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.Y1160*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.Y1185*	p.Y1364*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4333	+			1408					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.4092C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.411424	0.97546	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	.	.	.	5.64	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1032	0.30870	0.0:0.4965:0.0:0.5035	.	.	.	.	X	1383;1346;1408;1185;1160;1364;282	.	ENSP00000262231:Y1185X	Y	+	3	2	RIMS2	105333212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.672000	0.37523	0.332000	0.23536	0.655000	0.94253	TAC		0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
SMARCA2	6595	broad.mit.edu	37	9	2039586	2039586	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:2039586G>A	ENST00000382203.1	+	4	685	c.476G>A	c.(475-477)gGt>gAt	p.G159D	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G159D|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G159D|SMARCA2_ENST00000349721.2_Missense_Mutation_p.G159D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	159					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTCATCCCAGGTGATCCGCAG	0.582																																						uc003zhc.2																			0				ovary(2)|central_nervous_system(1)	3						c.(475-477)GGT>GAT		SWI/SNF-related matrix-associated							67.0	69.0	68.0					9																	2039586		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039586G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.476G>A	9.37:g.2039586G>A	ENSP00000371638:p.Gly159Asp					SMARCA2_uc003zhd.2_Missense_Mutation_p.G159D|SMARCA2_uc010mha.2_Missense_Mutation_p.G150D	p.G159D	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	575	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	159					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.476G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555767	0.65425	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.88741	-2.42;-2.39;0.71;-2.42;-2.39	5.6	5.6	0.85130	.	0.429782	0.23508	N	0.047422	D	0.92241	0.7539	L	0.39898	1.24	0.54753	D	0.999985	D;D	0.76494	0.981;0.999	D;D	0.80764	0.961;0.994	D	0.91262	0.5037	10	0.40728	T	0.16	-19.1826	19.6091	0.95594	0.0:0.0:1.0:0.0	.	159;159	P51531-2;P51531	.;SMCA2_HUMAN	D	159	ENSP00000265773:G159D;ENSP00000349788:G159D;ENSP00000392081:G159D;ENSP00000371638:G159D;ENSP00000371629:G159D	ENSP00000265773:G159D	G	+	2	0	SMARCA2	2029586	1.000000	0.71417	0.171000	0.22900	0.780000	0.44128	3.891000	0.56227	2.650000	0.89964	0.655000	0.94253	GGT		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
VCP	7415	broad.mit.edu	37	9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.N616fs*63(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515																																						uc003zvy.2																			1	Deletion - Frameshift(1)		large_intestine(1)	upper_aerodigestive_tract(1)	1						c.(1846-1848)AATfs		valosin-containing protein																																				SO:0001589	frameshift_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059646_35059647insT	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1848dupA	9.37:g.35059655_35059655dupT	ENSP00000351777:p.Asn616fs					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	p.N616fs	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2236_2237	-			616					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Ins	INS	ENST00000358901.6	37	c.1847_1848insA	CCDS6573.1																																																																																				0.515	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	
DAB2IP	153090	broad.mit.edu	37	9	124535257	124535257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:124535257C>T	ENST00000408936.3	+	12	2632	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	DAB2IP_ENST00000259371.2_Missense_Mutation_p.P789L|DAB2IP_ENST00000309989.1_Missense_Mutation_p.P693L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	817	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGGCGCGCCAGGCCGGCCC	0.726																																						uc004bln.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2365-2367)CCA>CTA		disabled homolog 2 interacting protein isoform							26.0	26.0	26.0					9																	124535257		2099	4092	6191	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535257C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2450C>T	9.37:g.124535257C>T	ENSP00000386183:p.Pro817Leu					DAB2IP_uc004blo.2_Missense_Mutation_p.P693L|DAB2IP_uc004blp.2_Missense_Mutation_p.P222L	p.P789L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			12	2435	+			817					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2366C>T		.	.	.	.	.	.	.	.	.	.	C	14.13	2.442881	0.43326	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.69	4.69	0.59074	.	0.165631	0.52532	D	0.000070	T	0.20981	0.0505	L	0.38531	1.155	0.80722	D	1	D;P	0.89917	1.0;0.93	D;P	0.91635	0.999;0.644	T	0.03566	-1.1024	10	0.07990	T	0.79	.	16.9563	0.86260	0.0:1.0:0.0:0.0	.	817;789	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	L	789;817;726;693	ENSP00000259371:P789L;ENSP00000386183:P817L;ENSP00000362887:P726L;ENSP00000310827:P693L	ENSP00000259371:P789L	P	+	2	0	DAB2IP	123575078	1.000000	0.71417	0.203000	0.23512	0.859000	0.49053	4.415000	0.59809	2.317000	0.78254	0.462000	0.41574	CCA		0.726	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
RBM18	92400	broad.mit.edu	37	9	125004210	125004210	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004210T>A	ENST00000417201.3	-	6	666	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	176							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GTAGTCCTTTTTTTATCTGGT	0.398																																						uc004bma.2																			0					0						c.(526-528)AAA>TAA		RNA binding motif protein 18							148.0	140.0	143.0					9																	125004210		2203	4300	6503	SO:0001587	stop_gained	92400						nucleotide binding|RNA binding	g.chr9:125004210T>A	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.526A>T	9.37:g.125004210T>A	ENSP00000409315:p.Lys176*					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	p.K176*	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			6	692	-			176					B3KQ89	Nonsense_Mutation	SNP	ENST00000417201.3	37	c.526A>T	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	T	33	5.235831	0.95240	.	.	ENSG00000119446	ENST00000417201	.	.	.	5.53	5.53	0.82687	.	0.041428	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.022	14.8349	0.70175	0.0:0.0:0.0:1.0	.	.	.	.	X	176	.	ENSP00000409315:K176X	K	-	1	0	RBM18	124044031	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.911000	0.75746	2.102000	0.63906	0.402000	0.26972	AAA		0.398	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117	
RBM18	92400	broad.mit.edu	37	9	125004227	125004227	+	Missense_Mutation	SNP	A	A	C	rs111532590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004227A>C	ENST00000417201.3	-	6	649	c.509T>G	c.(508-510)tTt>tGt	p.F170C	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	170							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGCTTAAAGTAGGAATA	0.403																																						uc004bma.2																			0					0						c.(508-510)TTT>TGT		RNA binding motif protein 18							139.0	132.0	134.0					9																	125004227		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125004227A>C	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.509T>G	9.37:g.125004227A>C	ENSP00000409315:p.Phe170Cys					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	p.F170C	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			6	675	-			170					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.509T>G	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072194	0.36566	.	.	ENSG00000119446	ENST00000417201	T	0.11930	2.73	5.53	5.53	0.82687	.	0.090221	0.85682	D	0.000000	T	0.12646	0.0307	L	0.36672	1.1	0.47123	D	0.999326	D	0.54047	0.964	B	0.40602	0.334	T	0.03945	-1.0990	10	0.38643	T	0.18	-14.7918	14.8349	0.70175	1.0:0.0:0.0:0.0	.	170	Q96H35	RBM18_HUMAN	C	170	ENSP00000409315:F170C	ENSP00000409315:F170C	F	-	2	0	RBM18	124044048	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.839000	0.69395	2.102000	0.63906	0.402000	0.26972	TTT		0.403	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117	
