#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPHP4	261734	broad.mit.edu	37	1	5940192	5940192	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:5940192T>A	ENST00000378156.4	-	19	2858	c.2593A>T	c.(2593-2595)Acg>Tcg	p.T865S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	865					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.T865S(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGTCGTGAGGAGGCTG	0.567																																						uc001alq.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2593-2595)ACG>TCG		nephroretinin							52.0	59.0	57.0					1																	5940192		2110	4224	6334	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5940192T>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2593A>T	1.37:g.5940192T>A	ENSP00000367398:p.Thr865Ser					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	p.T865S	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	19	2859	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	865					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2593A>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	T	5.017	0.188871	0.09547	.	.	ENSG00000131697	ENST00000378156	D	0.85702	-2.02	5.21	-1.83	0.07833	.	1.655170	0.03159	N	0.169104	T	0.60130	0.2245	N	0.01705	-0.755	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58031	-0.7708	10	0.08381	T	0.77	.	2.8998	0.05701	0.3168:0.2901:0.0:0.3932	.	865	O75161	NPHP4_HUMAN	S	865	ENSP00000367398:T865S	ENSP00000367398:T865S	T	-	1	0	NPHP4	5862779	0.000000	0.05858	0.013000	0.15412	0.527000	0.34593	-1.248000	0.02890	-0.252000	0.09528	0.459000	0.35465	ACG		PASS	0.567	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			39	25	39	25	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105332	14105332	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:14105332G>C	ENST00000235372.7	+	8	1898	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	PRDM2_ENST00000413440.1_Missense_Mutation_p.E147Q|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E147Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E348Q|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E348Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGAACTAAAGAAGAGGCCAA	0.413																																						uc001avi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1042-1044)GAA>CAA		retinoblastoma protein-binding zinc finger							119.0	111.0	114.0					1																	14105332		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105332G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1042G>C	1.37:g.14105332G>C	ENSP00000235372:p.Glu348Gln					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E348Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E105Q|PRDM2_uc001avk.2_Missense_Mutation_p.E147Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.E348Q	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1898	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	348					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1042G>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294807	0.40594	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01548	4.89;4.79;4.78;4.78	5.67	5.67	0.87782	.	0.166295	0.52532	D	0.000065	T	0.06050	0.0157	L	0.57536	1.79	0.40333	D	0.978944	D;P;D;D	0.60575	0.967;0.612;0.988;0.981	P;B;P;P	0.56088	0.622;0.123;0.701;0.791	T	0.57323	-0.7831	10	0.15066	T	0.55	.	18.3267	0.90256	0.0:0.0:1.0:0.0	.	348;206;348;348	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	Q	348;348;348;147;147	ENSP00000235372:E348Q;ENSP00000312352:E348Q;ENSP00000411103:E147Q;ENSP00000341621:E147Q	ENSP00000235372:E348Q	E	+	1	0	PRDM2	13977919	0.992000	0.36948	0.925000	0.36789	0.811000	0.45836	3.115000	0.50391	2.666000	0.90696	0.561000	0.74099	GAA		PASS	0.413	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	117	6	117	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18703338	18703338	+	Silent	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:18703338G>T	ENST00000251296.1	+	8	1529	c.1146G>T	c.(1144-1146)ggG>ggT	p.G382G	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	382	Ig-like 2.					extracellular region (GO:0005576)		p.G382G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCGGGTTGGGAGCCGCCTCC	0.647																																						uc001bau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1144-1146)GGG>GGT		immunoglobin superfamily, member 21 precursor							46.0	48.0	47.0					1																	18703338		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18703338G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1146G>T	1.37:g.18703338G>T						IGSF21_uc001bav.1_Silent_p.G203G	p.G382G	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1529	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	382			Ig-like 2.		Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.1146G>T	CCDS184.1																																																																																				PASS	0.647	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		91	93	91	93	---	---	---	---
NBPF3	84224	broad.mit.edu	37	1	21804673	21804673	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:21804673G>A	ENST00000318249.5	+	9	1379	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	NBPF3_ENST00000454000.2_Silent_p.Q273Q|NBPF3_ENST00000318220.6_Silent_p.Q287Q|NBPF3_ENST00000342104.5_Silent_p.Q368Q	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	343	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.Q343Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGCCCCCCAGGAGTCCTGGG	0.507																																						uc001ber.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1027-1029)CAG>CAA		neuroblastoma breakpoint family, member 3							123.0	126.0	125.0					1																	21804673		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21804673G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1029G>A	1.37:g.21804673G>A						NBPF3_uc001bes.2_Silent_p.Q287Q|NBPF3_uc009vqb.2_Silent_p.Q368Q|NBPF3_uc010odm.1_Silent_p.Q273Q	p.Q343Q	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1379	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	343			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.1029G>A	CCDS216.1																																																																																				PASS	0.507	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		40	105	40	105	---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23763446	23763446	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:23763446C>A	ENST00000336689.3	-	15	1478	c.1434G>T	c.(1432-1434)atG>atT	p.M478I	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Missense_Mutation_p.M469I	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	478	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.M478I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGAGTGACTGCATGCGCGAAA	0.657																																						uc001bha.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1432-1434)ATG>ATT		ArfGAP with SH3 domain, ankyrin repeat and PH							19.0	21.0	21.0					1																	23763446		2201	4297	6498	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763446C>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1434G>T	1.37:g.23763446C>A	ENSP00000338769:p.Met478Ile					ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.M347I|ASAP3_uc010oea.1_Missense_Mutation_p.M469I|ASAP3_uc001bhb.2_Missense_Mutation_p.M1I	p.M478I	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			15	1558	-			478			Arf-GAP.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1434G>T	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	6.661	0.490466	0.12702	.	.	ENSG00000088280	ENST00000538685;ENST00000336689;ENST00000437606	T;T	0.37058	1.22;1.22	4.53	-3.37	0.04898	.	0.235110	0.41938	N	0.000797	T	0.04137	0.0115	N	0.00078	-2.235	0.30477	N	0.772767	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.39603	-0.9606	10	0.02654	T	1	.	3.2139	0.06692	0.334:0.2015:0.3798:0.0847	.	469;347;1;478	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	I	1;478;469	ENSP00000338769:M478I;ENSP00000408826:M469I	ENSP00000338769:M478I	M	-	3	0	ASAP3	23636033	0.979000	0.34478	0.991000	0.47740	0.980000	0.70556	0.070000	0.14573	-0.343000	0.08351	0.471000	0.43371	ATG		PASS	0.657	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		4	78	4	78	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34049276	34049276	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:34049276G>C	ENST00000373381.4	-	47	7382	c.7206C>G	c.(7204-7206)agC>agG	p.S2402R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2404	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2404R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGCTTCTCGCTGAGGAAGT	0.502																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7210-7212)AGC>AGG		CUB and Sushi multiple domains 2							156.0	153.0	154.0					1																	34049276		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34049276G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7206C>G	1.37:g.34049276G>C	ENSP00000362479:p.Ser2402Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.S2402R	p.S2404R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			48	7241	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2404			CUB 14.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7212C>G		.	.	.	.	.	.	.	.	.	.	G	18.61	3.661340	0.67700	.	.	ENSG00000121904	ENST00000373381	T	0.17854	2.25	5.54	-4.42	0.03579	CUB (5);	0.050452	0.85682	D	0.000000	T	0.30355	0.0762	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73708	0.981;0.981	T	0.01762	-1.1279	10	0.40728	T	0.16	.	13.7907	0.63138	0.4626:0.0:0.5374:0.0	.	2404;2402	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	2402	ENSP00000362479:S2402R	ENSP00000241312:S2404R	S	-	3	2	CSMD2	33821863	0.923000	0.31300	0.961000	0.40146	0.952000	0.60782	0.038000	0.13862	-0.869000	0.04052	-0.224000	0.12420	AGC		PASS	0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		62	57	62	57	---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41283880	41283880	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:41283880G>A	ENST00000347132.5	+	3	532	c.450G>A	c.(448-450)cgG>cgA	p.R150R	KCNQ4_ENST00000509682.2_Silent_p.R150R	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	150					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R150R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	ACATCGTCCGGGTCTGGTCCG	0.617																																						uc001cgh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(448-450)CGG>CGA		potassium voltage-gated channel KQT-like protein							112.0	95.0	101.0					1																	41283880		2203	4300	6503	SO:0001819	synonymous_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41283880G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.450G>A	1.37:g.41283880G>A						KCNQ4_uc001cgi.1_Silent_p.R150R	p.R150R	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		3	532	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	150			Helical; Name=Segment S2; (Potential).		O96025	Silent	SNP	ENST00000347132.5	37	c.450G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749446	0.30955	.	.	ENSG00000117013	ENST00000443478	.	.	.	4.73	-9.07	0.00724	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42682	-0.9437	4	.	.	.	-18.5877	0.4534	0.00505	0.272:0.211:0.2805:0.2365	.	.	.	.	S	46	.	.	G	+	1	0	KCNQ4	41056467	0.000000	0.05858	0.787000	0.31911	0.960000	0.62799	-4.403000	0.00239	-1.307000	0.02321	-0.345000	0.07892	GGT		PASS	0.617	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		56	205	56	205	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45271337	45271337	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:45271337G>A	ENST00000372201.4	+	15	2167	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank|PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	643					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.R604H(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCGGGACCGCAGCCCAGCC	0.652																																						uc001cmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1927-1929)CGC>CAC		polo-like kinase 3							35.0	37.0	36.0					1																	45271337		2199	4294	6493	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271337G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1928G>A	1.37:g.45271337G>A	ENSP00000361275:p.Arg643His					PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	p.R643H	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			15	2028	+	Acute lymphoblastic leukemia(166;0.155)		643					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1928G>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777340	0.31411	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.68765	-0.35	5.59	1.63	0.23807	.	.	.	.	.	T	0.53367	0.1792	L	0.38838	1.175	0.28504	N	0.913885	B	0.02656	0.0	B	0.04013	0.001	T	0.46555	-0.9183	9	0.49607	T	0.09	-7.2716	7.8389	0.29387	0.3376:0.0:0.6624:0.0	.	643	Q9H4B4	PLK3_HUMAN	H	643;618	ENSP00000361275:R643H	ENSP00000361275:R643H	R	+	2	0	PLK3	45043924	1.000000	0.71417	0.920000	0.36463	0.205000	0.24178	1.633000	0.37113	0.049000	0.15920	-0.251000	0.11542	CGC		PASS	0.652	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		10	267	10	267	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62734103	62734103	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:62734103T>A	ENST00000371153.4	-	5	2465	c.2087A>T	c.(2086-2088)gAg>gTg	p.E696V	KANK4_ENST00000371150.1_Missense_Mutation_p.E52V|KANK4_ENST00000354381.3_Missense_Mutation_p.E68V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	696						cytoplasm (GO:0005737)		p.E696V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACACTTCTTCTCTGCCTCGCT	0.587																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(2086-2088)GAG>GTG		ankyrin repeat domain 38							108.0	89.0	95.0					1																	62734103		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62734103T>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2087A>T	1.37:g.62734103T>A	ENSP00000360195:p.Glu696Val					KANK4_uc001dai.3_Missense_Mutation_p.E68V|KANK4_uc001dag.3_Missense_Mutation_p.E52V	p.E696V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			5	2464	-			696					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2087A>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317059	0.81469	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.55052	0.54;0.64;0.65	6.17	6.17	0.99709	.	0.000000	0.39834	N	0.001245	T	0.64649	0.2617	M	0.73598	2.24	0.58432	D	0.999999	D;B	0.57571	0.98;0.409	P;B	0.53649	0.731;0.184	T	0.68062	-0.5508	10	0.54805	T	0.06	-29.7904	12.5553	0.56250	0.0:0.0657:0.0:0.9342	.	68;696	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	V	696;68;52	ENSP00000360195:E696V;ENSP00000346352:E68V;ENSP00000360192:E52V	ENSP00000346352:E68V	E	-	2	0	KANK4	62506691	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	2.597000	0.46214	2.371000	0.80710	0.533000	0.62120	GAG		PASS	0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		59	129	59	129	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75072462	75072462	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:75072462C>A	ENST00000326665.5	-	10	1530	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V241L	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		438	Glu-rich.							p.V438L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTGGTATCACATACTCTCTC	0.408																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1312-1314)GTG>TTG		hypothetical protein LOC127254							167.0	162.0	164.0					1																	75072462		2203	4298	6501	SO:0001583	missense	127254							g.chr1:75072462C>A																												ENST00000326665.5:c.1312G>T	1.37:g.75072462C>A	ENSP00000322609:p.Val438Leu					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.V232L	p.V438L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1531	-			438			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1312G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	3.744	-0.053053	0.07362	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18016	2.74;2.24	5.14	-8.78	0.00824	.	.	.	.	.	T	0.01092	0.0036	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43426	-0.9392	9	0.27082	T	0.32	2.3865	1.3962	0.02261	0.2815:0.0815:0.2061:0.4309	.	241;438	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	L	438;241	ENSP00000322609:V438L;ENSP00000398581:V241L	ENSP00000322609:V438L	V	-	1	0	C1orf173	74845050	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.274000	0.02820	-1.364000	0.02161	-1.000000	0.02509	GTG		PASS	0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			28	36	28	36	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110257798	110257798	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:110257798G>A	ENST00000256593.3	+	7	561	c.503G>A	c.(502-504)cGt>cAt	p.R168H	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.R187H|GSTM5_ENST00000369813.1_Missense_Mutation_p.R127H	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	168	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.R168H(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GACATGAAGCGTATATTTGAG	0.473																																						uc001dyn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)	6						c.(502-504)CGT>CAT		glutathione S-transferase mu 5	Glutathione(DB00143)						261.0	239.0	247.0					1																	110257798		2203	4300	6503	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257798G>A	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.503G>A	1.37:g.110257798G>A	ENSP00000256593:p.Arg168His					GSTM5_uc010ovu.1_Missense_Mutation_p.R127H	p.R168H	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	574	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	168			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.503G>A	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993193	0.19043	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.02140	4.43;4.43;4.43	5.02	4.11	0.48088	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.156795	0.39146	U	0.001448	T	0.01387	0.0045	M	0.74647	2.275	0.26919	N	0.966722	B;B	0.28419	0.038;0.211	B;B	0.18561	0.022;0.022	T	0.37150	-0.9718	10	0.51188	T	0.08	.	10.8188	0.46593	0.0899:0.0:0.9101:0.0	.	127;168	Q5T8Q9;P46439	.;GSTM5_HUMAN	H	168;127;187	ENSP00000256593:R168H;ENSP00000358828:R127H;ENSP00000358827:R187H	ENSP00000256593:R168H	R	+	2	0	GSTM5	110059321	0.003000	0.15002	0.005000	0.12908	0.006000	0.05464	0.549000	0.23329	1.230000	0.43646	0.597000	0.82753	CGT		PASS	0.473	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		14	438	14	438	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156524120	156524120	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:156524120C>A	ENST00000361170.2	-	13	1365	c.1355G>T	c.(1354-1356)cGg>cTg	p.R452L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	452					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.R452L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCAGGGCCCGGTTAATCAG	0.617																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1354-1356)CGG>CTG		IQ motif containing GTPase activating protein 3							42.0	46.0	44.0					1																	156524120		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156524120C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1355G>T	1.37:g.156524120C>A	ENSP00000354451:p.Arg452Leu					IQGAP3_uc009wsb.1_Missense_Mutation_p.R409L	p.R452L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			13	1430	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		452					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1355G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039061	0.55003	.	.	ENSG00000183856	ENST00000361170	T	0.09723	2.95	5.03	-5.33	0.02713	.	0.529221	0.19224	N	0.119588	T	0.02767	0.0083	L	0.39245	1.2	0.35368	D	0.788783	P	0.36282	0.546	B	0.27608	0.081	T	0.01146	-1.1437	10	0.52906	T	0.07	-2.1622	15.3405	0.74293	0.0:0.7509:0.0:0.2491	.	452	Q86VI3	IQGA3_HUMAN	L	452	ENSP00000354451:R452L	ENSP00000354451:R452L	R	-	2	0	IQGAP3	154790744	0.256000	0.24012	0.229000	0.23960	0.997000	0.91878	-0.012000	0.12699	-1.516000	0.01782	0.561000	0.74099	CGG		PASS	0.617	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		4	91	4	91	---	---	---	---
HAPLN2	60484	broad.mit.edu	37	1	156594436	156594436	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:156594436C>A	ENST00000255039.1	+	6	1007	c.600C>A	c.(598-600)ctC>ctA	p.L200L	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.L200L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGCTGCTCGAGGGCTCCG	0.726																																						uc001fpn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)CTC>CTA		brain link protein-1 precursor							14.0	16.0	16.0					1																	156594436		2196	4297	6493	SO:0001819	synonymous_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156594436C>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.600C>A	1.37:g.156594436C>A							p.L200L	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN			6	1007	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		200			Link 1.		Q5T3J0	Silent	SNP	ENST00000255039.1	37	c.600C>A	CCDS1148.1																																																																																				PASS	0.726	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		4	62	4	62	---	---	---	---
ETV3L	440695	broad.mit.edu	37	1	157062600	157062600	+	Silent	SNP	C	C	A	rs548676307		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:157062600C>A	ENST00000454449.2	-	5	1211	c.927G>T	c.(925-927)ggG>ggT	p.G309G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	309					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G309G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TTACTTCCAGCCCCTCGGGCC	0.627																																						uc001fqq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(925-927)GGG>GGT		ets variant 3-like							53.0	51.0	52.0					1																	157062600		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062600C>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.927G>T	1.37:g.157062600C>A							p.G309G	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			5	1212	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	309						Silent	SNP	ENST00000454449.2	37	c.927G>T	CCDS30893.1																																																																																				PASS	0.627	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		120	21	120	21	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683677	159683677	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:159683677G>A	ENST00000255030.5	-	2	416	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	105	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.P105S(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	GTGACTTCAGGAACCTCGAAT	0.468																																						uc001ftw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)CCT>TCT		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						115.0	114.0	114.0					1																	159683677		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683677G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.313C>T	1.37:g.159683677G>A	ENSP00000255030:p.Pro105Ser					CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	p.P105S	NM_000567	NP_000558	P02741	CRP_HUMAN			2	417	-	all_hematologic(112;0.0429)		105			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.313C>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	G	2.178	-0.388193	0.04932	.	.	ENSG00000132693	ENST00000255030	T	0.58358	0.34	4.73	-4.61	0.03380	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.045930	0.07444	N	0.897885	T	0.12347	0.0300	L	0.33753	1.03	0.09310	N	0.999999	B	0.13145	0.007	B	0.13407	0.009	T	0.14448	-1.0472	10	0.21014	T	0.42	-0.1194	2.0504	0.03570	0.355:0.3511:0.1758:0.1181	.	105	P02741	CRP_HUMAN	S	105	ENSP00000255030:P105S	ENSP00000255030:P105S	P	-	1	0	CRP	157950301	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.333000	0.19768	-1.001000	0.03434	-0.903000	0.02851	CCT		PASS	0.468	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		123	33	123	33	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169698481	169698481	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:169698481A>T	ENST00000333360.7	-	7	1075	c.936T>A	c.(934-936)aaT>aaA	p.N312K	SELE_ENST00000367777.1_Missense_Mutation_p.N312K|SELE_ENST00000367774.1_Missense_Mutation_p.N312K|SELE_ENST00000367782.4_Missense_Mutation_p.N312K|SELE_ENST00000367781.4_Missense_Mutation_p.N312K|SELE_ENST00000367776.1_Missense_Mutation_p.N312K|SELE_ENST00000367775.1_Missense_Mutation_p.N250K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.N312K|SELE_ENST00000367780.4_Missense_Mutation_p.N250K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	312	Sushi 3. {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.N312K(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)	TCACAGAGCCATTCTGAGGCT	0.522																																						uc001ggm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(934-936)AAT>AAA		selectin E precursor							56.0	51.0	53.0					1																	169698481		2203	4300	6503	SO:0001583	missense	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.chr1:169698481A>T	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.936T>A	1.37:g.169698481A>T	ENSP00000331736:p.Asn312Lys					C1orf112_uc001ggj.2_Intron	p.N312K	NM_000450	NP_000441	P16581	LYAM2_HUMAN			7	1093	-	all_hematologic(923;0.208)		312			Extracellular (Potential).|Sushi 3.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.936T>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992482	0.54041	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.13	0.159	0.14968	Complement control module (2);Sushi/SCR/CCP (2);	0.157967	0.30109	N	0.010390	T	0.69744	0.3145	M	0.90650	3.135	0.43857	D	0.996452	D	0.69078	0.997	D	0.74023	0.982	T	0.69022	-0.5255	10	0.37606	T	0.19	-2.9096	8.313	0.32082	0.6466:0.0:0.3534:0.0	.	312	P16581	LYAM2_HUMAN	K	312;312;250;312;312;312;250;312;312	ENSP00000356755:N312K;ENSP00000356756:N312K;ENSP00000356754:N250K;ENSP00000356753:N312K;ENSP00000331736:N312K;ENSP00000356751:N312K;ENSP00000356749:N250K;ENSP00000356750:N312K;ENSP00000356748:N312K	ENSP00000331736:N312K	N	-	3	2	SELE	167965105	0.000000	0.05858	0.946000	0.38457	0.807000	0.45602	-2.580000	0.00907	-0.234000	0.09782	0.528000	0.53228	AAT		PASS	0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		17	4	17	4	---	---	---	---
TOR1AIP2	163590	broad.mit.edu	37	1	179820290	179820290	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:179820290A>C	ENST00000367612.3	-	4	630	c.243T>G	c.(241-243)caT>caG	p.H81Q	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.H81Q	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.H81Q(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TATCCTTTGGATGTTTCCCCA	0.443																																						uc001gnk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CAT>CAG		torsin A interacting protein 2							135.0	120.0	125.0					1																	179820290		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820290A>C		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.243T>G	1.37:g.179820290A>C	ENSP00000356584:p.His81Gln					TOR1AIP2_uc001gnl.2_Missense_Mutation_p.H81Q	p.H81Q	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			4	631	-			81					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.243T>G	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638454	0.29157	.	.	ENSG00000169905	ENST00000367612	T	0.22945	1.93	5.79	3.48	0.39840	.	1.929940	0.02449	N	0.085416	T	0.19805	0.0476	N	0.22421	0.69	0.21527	N	0.999656	B	0.17465	0.022	B	0.16722	0.016	T	0.26326	-1.0106	10	0.19147	T	0.46	0.4026	7.3621	0.26752	0.8282:0.0:0.1718:0.0	.	81	Q8NFQ8	TOIP2_HUMAN	Q	81	ENSP00000356584:H81Q	ENSP00000356584:H81Q	H	-	3	2	TOR1AIP2	178086913	0.076000	0.21285	0.184000	0.23157	0.107000	0.19398	0.720000	0.25896	0.457000	0.26962	0.533000	0.62120	CAT		PASS	0.443	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		3	112	3	112	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181479612	181479612	+	Splice_Site	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:181479612C>T	ENST00000367573.2	+	2	266		c.e2-1		CACNA1E_ENST00000526775.1_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P89L(1)|p.?(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCTTTCCCACGCCATTTGAG	0.532																																						uc001gow.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.e2-1		calcium channel, voltage-dependent, R type,							122.0	116.0	118.0					1																	181479612		2100	4224	6324	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479612C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.267-1C>T	1.37:g.181479612C>T						CACNA1E_uc009wxr.2_5'Flank|CACNA1E_uc009wxs.2_5'Flank	p.P89_splice	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			2	432	+								B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	37	c.267_splice	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264192	0.80358	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8037	0.92028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1E	179746235	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.707000	0.84623	2.525000	0.85131	0.561000	0.74099	.		PASS	0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Intron	55	14	55	14	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183944266	183944266	+	Silent	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:183944266G>T	ENST00000361927.4	-	3	828	c.457C>A	c.(457-459)Cga>Aga	p.R153R	COLGALT2_ENST00000546159.1_Silent_p.R153R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	153					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.R153R(1)									CTCGCAGTTCGAAGGGCTGCC	0.428																																						uc001gqr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(457-459)CGA>AGA		glycosyltransferase 25 domain containing 2							119.0	113.0	115.0					1																	183944266		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183944266G>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.457C>A	1.37:g.183944266G>T						GLT25D2_uc010poj.1_Silent_p.R153R|GLT25D2_uc001gqs.2_Silent_p.R33R	p.R153R	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			3	829	-			153					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.457C>A	CCDS1360.1																																																																																				PASS	0.428	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		4	42	4	42	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190234022	190234022	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:190234022G>A	ENST00000367462.3	-	4	822	c.591C>T	c.(589-591)caC>caT	p.H197H	BRINP3_ENST00000534846.1_Silent_p.H95H|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	197	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.H197H(1)									CAATTTGAATGTGGTGAAGTC	0.423																																						uc001gse.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(589-591)CAC>CAT		family with sequence similarity 5, member C							126.0	124.0	125.0					1																	190234022		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190234022G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.591C>T	1.37:g.190234022G>A						FAM5C_uc010pot.1_Silent_p.H95H	p.H197H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			4	823	-	Prostate(682;0.198)		197					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.591C>T	CCDS1373.1																																																																																				PASS	0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		107	40	107	40	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072612	197072612	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:197072612T>C	ENST00000367409.4	-	18	6025	c.5769A>G	c.(5767-5769)gcA>gcG	p.A1923A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1923	IQ 11. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A1923A(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGACTAATGCTGCTGTTTTAA	0.423																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(5767-5769)GCA>GCG		asp (abnormal spindle)-like, microcephaly							153.0	154.0	154.0					1																	197072612		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072612T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5769A>G	1.37:g.197072612T>C						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.A1923A	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6026	-			1923			IQ 11.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5769A>G	CCDS1389.1																																																																																				PASS	0.423	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		27	7	27	7	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197112527	197112527	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:197112527A>T	ENST00000367409.4	-	3	1111	c.855T>A	c.(853-855)aaT>aaA	p.N285K	ASPM_ENST00000294732.7_Missense_Mutation_p.N285K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	285					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.N285K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCCATTAACATTTACGGAAT	0.343																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(853-855)AAT>AAA		asp (abnormal spindle)-like, microcephaly							83.0	81.0	82.0					1																	197112527		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112527A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.855T>A	1.37:g.197112527A>T	ENSP00000356379:p.Asn285Lys					ASPM_uc001gtv.2_Missense_Mutation_p.N285K|ASPM_uc001gtw.3_Intron	p.N285K	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1112	-			285					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.855T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	4.849	0.157763	0.09236	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58797	0.31;1.58	5.26	1.57	0.23409	.	0.775836	0.12164	N	0.493680	T	0.46521	0.1397	L	0.54323	1.7	0.09310	N	1	B;B	0.22276	0.067;0.039	B;B	0.19391	0.025;0.01	T	0.34850	-0.9812	10	0.10377	T	0.69	.	8.3369	0.32219	0.7751:0.0:0.2249:0.0	.	285;285	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	285	ENSP00000356379:N285K;ENSP00000294732:N285K	ENSP00000294732:N285K	N	-	3	2	ASPM	195379150	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-0.003000	0.12901	0.067000	0.16545	0.519000	0.50382	AAT		PASS	0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	66	12	66	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220777445	220777445	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:220777445T>G	ENST00000366917.4	+	6	727	c.461T>G	c.(460-462)aTg>aGg	p.M154R	MARK1_ENST00000402574.1_Missense_Mutation_p.M19R|MARK1_ENST00000366918.4_Missense_Mutation_p.M132R					MAP/microtubule affinity-regulating kinase 1									p.M154R(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CATGGAAGAATGAAAGAGAAA	0.343																																						uc001hmn.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(460-462)ATG>AGG		MAP/microtubule affinity-regulating kinase 1							105.0	109.0	108.0					1																	220777445		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220777445T>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.461T>G	1.37:g.220777445T>G	ENSP00000355884:p.Met154Arg					MARK1_uc009xdw.2_Missense_Mutation_p.M154R|MARK1_uc010pun.1_Missense_Mutation_p.M154R|MARK1_uc001hmm.3_Missense_Mutation_p.M132R	p.M154R	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	6	1058	+			154			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.461T>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877090	0.72180	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.66460	-0.21;-0.21;-0.21	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	L	0.35414	1.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;D	0.97110	1.0;0.999;0.994;0.967	T	0.76767	-0.2838	10	0.87932	D	0	.	13.7651	0.62990	0.0:0.0:0.0:1.0	.	154;19;154;132	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	R	19;132;154	ENSP00000386017:M19R;ENSP00000355885:M132R;ENSP00000355884:M154R	ENSP00000355884:M154R	M	+	2	0	MARK1	218844068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.987000	0.76206	1.938000	0.56188	0.397000	0.26171	ATG		PASS	0.343	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			15	2	15	2	---	---	---	---
MTR	4548	broad.mit.edu	37	1	236992548	236992548	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:236992548A>T	ENST00000366577.5	+	12	1449	c.1055A>T	c.(1054-1056)gAa>gTa	p.E352V	MTR_ENST00000535889.1_Missense_Mutation_p.E352V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	352					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E352V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTGCTTTTGAAGGACATATG	0.393																																						uc001hyi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1054-1056)GAA>GTA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						152.0	141.0	145.0					1																	236992548		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236992548A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1055A>T	1.37:g.236992548A>T	ENSP00000355536:p.Glu352Val					MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.E352V|MTR_uc010pxy.1_Missense_Mutation_p.E352V|MTR_uc009xgj.1_3'UTR	p.E352V	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	12	1478	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	352					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.1055A>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960794	0.53400	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.36157	1.27;1.27	5.05	5.05	0.67936	Homocysteine S-methyltransferase (2);	0.368270	0.31010	N	0.008436	T	0.21550	0.0519	N	0.08118	0	0.35296	D	0.782568	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.004;0.004;0.004	T	0.17961	-1.0352	10	0.59425	D	0.04	-19.0772	13.5279	0.61605	1.0:0.0:0.0:0.0	.	352;352;352	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	V	352	ENSP00000355536:E352V;ENSP00000441845:E352V	ENSP00000355536:E352V	E	+	2	0	MTR	235059171	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.420000	0.66441	2.126000	0.65437	0.482000	0.46254	GAA		PASS	0.393	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		50	17	50	17	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237774248	237774249	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:237774248_237774249CC>AA	ENST00000366574.2	+	36	5187_5188	c.4870_4871CC>AA	c.(4870-4872)CCt>AAt	p.P1624N	RYR2_ENST00000542537.1_Missense_Mutation_p.P1608N|RYR2_ENST00000360064.6_Missense_Mutation_p.P1622N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1624	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.P1622H(1)|p.P1622T(1)|p.P1622N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTTTGGATCCTCTGCAGTTC	0.52																																						uc001hyl.1																			3	Substitution - Missense(3)		lung(3)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4870-4872)CCT>ACT|c.(4870-4872)CCT>CAT		cardiac muscle ryanodine receptor																																				SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774248C>A|g.chr1:237774249C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237774248_237774249delinsAA	ENSP00000355533:p.Pro1624Asn						p.P1624T|p.P1624H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4990|4991	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1624			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4870C>A|c.4871C>A	CCDS55691.1																																																																																				PASS	0.520	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	2	8	2	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246811035	246811035	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:246811035G>T	ENST00000366513.4	+	9	1801	c.1532G>T	c.(1531-1533)tGt>tTt	p.C511F	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.C511F	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	511					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.C511F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AATGTGCTCTGTGGAAATAAT	0.448																																						uc001ibp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)TGT>TTT		hypothetical protein LOC163882 isoform 1							84.0	84.0	84.0					1																	246811035		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811035G>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1532G>T	1.37:g.246811035G>T	ENSP00000355470:p.Cys511Phe					CNST_uc001ibo.3_Missense_Mutation_p.C511F	p.C511F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1910	+			511					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1532G>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	5.142	0.211870	0.09757	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.18810	2.24;2.19	5.09	5.09	0.68999	.	0.483471	0.21583	N	0.072213	T	0.36690	0.0976	M	0.71581	2.175	0.80722	D	1	D;D	0.59767	0.974;0.986	P;P	0.54312	0.748;0.66	T	0.06075	-1.0847	10	0.42905	T	0.14	-21.3138	12.9016	0.58128	0.0:0.2141:0.7859:0.0	.	511;511	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	F	511	ENSP00000355470:C511F;ENSP00000355469:C511F	ENSP00000355469:C511F	C	+	2	0	CNST	244877658	0.614000	0.27017	0.168000	0.22838	0.138000	0.21146	0.696000	0.25541	2.513000	0.84729	0.467000	0.42956	TGT		PASS	0.448	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		4	98	4	98	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262792	248262792	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr1:248262792G>A	ENST00000358120.2	+	2	260	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	OR2L13_ENST00000366478.2_Missense_Mutation_p.V39M			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V39M(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTGGCCTCGGTGGGTAACTC	0.463																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(115-117)GTG>ATG		olfactory receptor, family 2, subfamily L,							203.0	196.0	198.0					1																	248262792		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262792G>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.115G>A	1.37:g.248262792G>A	ENSP00000350836:p.Val39Met						p.V39M	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	452	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		39			Helical; Name=1; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.115G>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.160100	0.01686	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00450	7.36;7.36	4.07	-2.21	0.06973	.	1.180040	0.06499	N	0.735970	T	0.00178	0.0005	N	0.05230	-0.09	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.30851	-0.9964	10	0.33141	T	0.24	.	0.7144	0.00929	0.1848:0.1993:0.2185:0.3974	.	39	Q8N349	OR2LD_HUMAN	M	39	ENSP00000355434:V39M;ENSP00000350836:V39M	ENSP00000350836:V39M	V	+	1	0	OR2L13	246329415	0.000000	0.05858	0.011000	0.14972	0.027000	0.11550	-8.199000	0.00023	-0.042000	0.13535	0.650000	0.86243	GTG		PASS	0.463	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		58	14	58	14	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32339808	32339808	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:32339808G>A	ENST00000315285.3	+	5	909	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	SPAST_ENST00000345662.1_Missense_Mutation_p.G230S	NM_014946.3	NP_055761.2			spastin									p.G262S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGCCTTTCAGGCCACCATAG	0.453																																						uc002roc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(784-786)GGC>AGC		spastin isoform 1							82.0	83.0	83.0					2																	32339808		2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32339808G>A	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.784G>A	2.37:g.32339808G>A	ENSP00000320885:p.Gly262Ser					SPAST_uc002rod.2_Missense_Mutation_p.G230S	p.G262S	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			5	1005	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		262			Required for interaction with RTN1.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules.			Missense_Mutation	SNP	ENST00000315285.3	37	c.784G>A	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657447	0.29425	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.62105	0.05;0.05	5.09	5.09	0.68999	.	0.179577	0.37053	N	0.002275	T	0.40522	0.1120	N	0.14661	0.345	0.43179	D	0.994995	B;B	0.22146	0.011;0.065	B;B	0.17098	0.003;0.017	T	0.31503	-0.9941	10	0.11794	T	0.64	-17.7759	10.8546	0.46792	0.0886:0.0:0.9114:0.0	.	230;262	E5KRP6;Q9UBP0	.;SPAST_HUMAN	S	230;262	ENSP00000340817:G230S;ENSP00000320885:G262S	ENSP00000320885:G262S	G	+	1	0	SPAST	32193312	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.858000	0.62947	2.374000	0.81015	0.460000	0.39030	GGC		PASS	0.453	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		46	54	46	54	---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72359597	72359597	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:72359597G>A	ENST00000001146.2	-	6	1501	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	CYP26B1_ENST00000412253.1_Missense_Mutation_p.P242L|CYP26B1_ENST00000546307.1_Missense_Mutation_p.P358L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	433					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.P433L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCCACCGAACGGGAGGTAATG	0.637																																						uc002sih.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1297-1299)CCG>CTG		cytochrome P450, family 26, subfamily b,							70.0	60.0	63.0					2																	72359597		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359597G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1298C>T	2.37:g.72359597G>A	ENSP00000001146:p.Pro433Leu					CYP26B1_uc010yra.1_Missense_Mutation_p.P416L|CYP26B1_uc010yrb.1_Missense_Mutation_p.P358L	p.P433L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			6	1298	-			433					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1298C>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159251	0.94686	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	D;D;D	0.84146	-1.81;-1.81;-1.81	5.64	5.64	0.86602	.	0.050699	0.85682	D	0.000000	D	0.93298	0.7864	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.991	D	0.93407	0.6765	10	0.62326	D	0.03	-15.4294	18.6588	0.91465	0.0:0.0:1.0:0.0	.	358;416;433	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	L	433;242;358	ENSP00000001146:P433L;ENSP00000401465:P242L;ENSP00000443304:P358L	ENSP00000001146:P433L	P	-	2	0	CYP26B1	72213105	1.000000	0.71417	0.909000	0.35828	0.757000	0.42996	9.863000	0.99569	2.837000	0.97791	0.655000	0.94253	CCG		PASS	0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		144	158	144	158	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303134	73303134	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:73303134G>C	ENST00000258098.6	-	4	1985	c.1745C>G	c.(1744-1746)aCc>aGc	p.T582S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	582					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.T582S(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCCTTTTGGTGTCCACCAT	0.612																																						uc002siu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1744-1746)ACC>AGC		RAB11 family interacting protein 5 (class I)							122.0	127.0	125.0					2																	73303134		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303134G>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1745C>G	2.37:g.73303134G>C	ENSP00000258098:p.Thr582Ser					RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Missense_Mutation_p.T504S	p.T582S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			4	1986	-			582					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1745C>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	8.086	0.773528	0.16051	.	.	ENSG00000135631	ENST00000258098	T	0.44482	0.92	4.88	4.88	0.63580	.	0.502608	0.20117	N	0.098891	T	0.29389	0.0732	L	0.27053	0.805	0.31056	N	0.714636	B	0.02656	0.0	B	0.04013	0.001	T	0.12372	-1.0550	10	0.10636	T	0.68	-8.2797	15.1356	0.72562	0.0:0.0:1.0:0.0	.	582	Q9BXF6	RFIP5_HUMAN	S	582	ENSP00000258098:T582S	ENSP00000258098:T582S	T	-	2	0	RAB11FIP5	73156642	0.987000	0.35691	0.999000	0.59377	0.826000	0.46750	1.998000	0.40796	2.443000	0.82685	0.637000	0.83480	ACC		PASS	0.612	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		18	856	18	856	---	---	---	---
IGKV1-5	28299	broad.mit.edu	37	2	89246933	89246933	+	RNA	SNP	C	C	A	rs376916332		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:89246933C>A	ENST00000496168.1	-	0	417							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTGATGGGACCCCACTTTCTA	0.502																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							139.0	129.0	132.0					2																	89246933		1871	4088	5959			0							g.chr2:89246933C>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89246933C>A						uc002stl.2_Intron								101		-									RNA	SNP	ENST00000496168.1	37	c.8126G>T																																																																																					PASS	0.502	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		58	77	58	77	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013414	99013414	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:99013414C>A	ENST00000272602.2	+	7	1820	c.1781C>A	c.(1780-1782)gCc>gAc	p.A594D	CNGA3_ENST00000436404.2_Missense_Mutation_p.A576D|CNGA3_ENST00000393504.1_Missense_Mutation_p.A594D|CNGA3_ENST00000409937.1_Missense_Mutation_p.A598D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	594					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.A594D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TACCCCGAAGCCAAGAAGGCC	0.607																																						uc002syt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1780-1782)GCC>GAC		cyclic nucleotide gated channel alpha 3 isoform							44.0	45.0	45.0					2																	99013414		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013414C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1781C>A	2.37:g.99013414C>A	ENSP00000272602:p.Ala594Asp					CNGA3_uc002syu.2_Missense_Mutation_p.A576D|CNGA3_uc010fij.2_Missense_Mutation_p.A598D	p.A594D	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2198	+			594			cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1781C>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286770	0.80803	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.048147	0.85682	D	0.000000	D	0.98163	0.9393	M	0.91300	3.195	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.98	D;D;P	0.71414	0.957;0.973;0.833	D	0.98813	1.0744	10	0.87932	D	0	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	598;576;594	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	D	594;576;594;598	ENSP00000377140:A594D;ENSP00000410070:A576D;ENSP00000272602:A594D;ENSP00000386761:A598D	ENSP00000272602:A594D	A	+	2	0	CNGA3	98379846	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	7.320000	0.79064	2.826000	0.97356	0.563000	0.77884	GCC		PASS	0.607	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		98	98	98	98	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100906865	100906865	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:100906865C>T	ENST00000393437.3	-	10	2414	c.1775G>A	c.(1774-1776)tGc>tAc	p.C592Y	LONRF2_ENST00000409647.1_Missense_Mutation_p.C349Y	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	592	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.C592Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTCCAGCATGCATCCATACTC	0.453																																						uc002tal.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1774-1776)TGC>TAC		LON peptidase N-terminal domain and ring finger							117.0	106.0	109.0					2																	100906865		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100906865C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1775G>A	2.37:g.100906865C>T	ENSP00000377086:p.Cys592Tyr					LONRF2_uc010yvs.1_RNA	p.C592Y	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			10	2415	-			592			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1775G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913003	0.52439	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.46063	0.88;0.88	4.89	3.04	0.35103	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.105688	0.64402	D	0.000003	T	0.68109	0.2965	M	0.91972	3.26	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.71097	-0.4691	10	0.87932	D	0	-7.9452	9.9884	0.41856	0.0:0.7856:0.1388:0.0756	.	592	Q1L5Z9	LONF2_HUMAN	Y	592;349	ENSP00000377086:C592Y;ENSP00000386823:C349Y	ENSP00000377086:C592Y	C	-	2	0	LONRF2	100273297	1.000000	0.71417	0.119000	0.21687	0.522000	0.34438	4.965000	0.63708	0.441000	0.26529	0.655000	0.94253	TGC		PASS	0.453	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		65	122	65	122	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116525900	116525900	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:116525900G>A	ENST00000410059.1	+	13	1621	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	DPP10_ENST00000310323.8_Missense_Mutation_p.G374S|DPP10_ENST00000393147.2_Missense_Mutation_p.G385S|DPP10_ENST00000409163.1_Missense_Mutation_p.G331S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	381						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.G381S(1)|p.G374S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCTAGAGACGGCAGCAAATT	0.453																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1141-1143)GGC>AGC		dipeptidyl peptidase 10 isoform long							139.0	133.0	135.0					2																	116525900		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116525900G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1141G>A	2.37:g.116525900G>A	ENSP00000386565:p.Gly381Ser					DPP10_uc002tlb.1_Missense_Mutation_p.G331S|DPP10_uc002tlc.1_Missense_Mutation_p.G377S|DPP10_uc002tle.2_Missense_Mutation_p.G385S|DPP10_uc002tlf.1_Missense_Mutation_p.G374S	p.G381S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			13	1598	+			381			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1141G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508467	0.64410	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.25	4.37	0.52481	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.107337	0.64402	N	0.000006	T	0.52500	0.1738	M	0.69463	2.115	0.54753	D	0.999984	P;B;P;P	0.39809	0.498;0.128;0.689;0.554	B;B;B;B	0.40477	0.16;0.022;0.33;0.248	T	0.55147	-0.8186	10	0.42905	T	0.14	-17.025	12.4561	0.55706	0.0809:0.0:0.9191:0.0	.	374;385;377;381	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	381;331;385;374;331	ENSP00000386565:G381S;ENSP00000387038:G331S;ENSP00000376855:G385S;ENSP00000309066:G374S	ENSP00000309066:G374S	G	+	1	0	DPP10	116242370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.118000	0.50414	1.444000	0.47605	0.655000	0.94253	GGC		PASS	0.453	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		3	7	3	7	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118688708	118688708	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:118688708C>G	ENST00000376300.2	-	23	1884	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E582Q	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	583								p.E583Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATTTTGTTCTCTTGCTTTTTC	0.418																																						uc002tlj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1747-1749)GAG>CAG		coiled-coil domain containing 93							271.0	261.0	264.0					2																	118688708		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118688708C>G	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1747G>C	2.37:g.118688708C>G	ENSP00000365477:p.Glu583Gln						p.E583Q	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			23	1873	-			583			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1747G>C	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808752	0.90707	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.68025	-0.3;-0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.79123	2.44	0.58432	D	0.999998	D	0.58620	0.983	P	0.54924	0.764	T	0.77064	-0.2726	10	0.39692	T	0.17	-22.5008	16.7358	0.85446	0.0:1.0:0.0:0.0	.	583	Q567U6	CCD93_HUMAN	Q	583;582	ENSP00000365477:E583Q;ENSP00000324135:E582Q	ENSP00000324135:E582Q	E	-	1	0	CCDC93	118405178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.725000	0.74752	2.809000	0.96659	0.467000	0.42956	GAG		PASS	0.418	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		4	162	4	162	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157428	145157428	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:145157428C>T	ENST00000558170.2	-	8	2510	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZEB2_ENST00000409487.3_Silent_p.G442G|ZEB2_ENST00000303660.4_Silent_p.G442G|ZEB2_ENST00000539609.3_Silent_p.G418G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	442	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G442G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGCTTCCATCCCTACACCTA	0.453																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1324-1326)GGG>GGA		zinc finger homeobox 1b							67.0	72.0	70.0					2																	145157428		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157428C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1326G>A	2.37:g.145157428C>T						ZEB2_uc002tvv.2_Silent_p.G436G|ZEB2_uc010zbm.1_Silent_p.G413G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.G471G	p.G442G	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1806	-			442			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.1326G>A	CCDS2186.1																																																																																				PASS	0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		3	21	3	21	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158443728	158443728	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:158443728C>T	ENST00000243349.8	-	2	635	c.275G>A	c.(274-276)tGc>tAc	p.C92Y	ACVR1C_ENST00000409680.3_Missense_Mutation_p.C42Y|ACVR1C_ENST00000348328.5_Missense_Mutation_p.C92Y|ACVR1C_ENST00000335450.7_Missense_Mutation_p.C92Y	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.C92Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TATGTTGTTGCAAAAATCTGT	0.388																																						uc002tzk.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(274-276)TGC>TAC		activin A receptor, type IC isoform 1							189.0	180.0	183.0					2																	158443728		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158443728C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.275G>A	2.37:g.158443728C>T	ENSP00000243349:p.Cys92Tyr					ACVR1C_uc002tzl.3_Missense_Mutation_p.C92Y|ACVR1C_uc010fof.2_Missense_Mutation_p.C92Y|ACVR1C_uc010foe.2_Missense_Mutation_p.C42Y	p.C92Y	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			2	518	-			92			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.275G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522309	0.64747	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.99944	-8.51;-8.51;-8.51;-8.51	5.55	5.55	0.83447	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.64402	D	0.000013	D	0.99947	0.9977	M	0.87682	2.9	0.38867	D	0.956601	D;B;D	0.71674	0.997;0.066;0.998	D;B;D	0.80764	0.994;0.008;0.967	D	0.95606	0.8667	10	0.87932	D	0	.	19.5066	0.95118	0.0:1.0:0.0:0.0	.	92;92;92	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	Y	92;42;92;92	ENSP00000243349:C92Y;ENSP00000387168:C42Y;ENSP00000335139:C92Y;ENSP00000335178:C92Y	ENSP00000243349:C92Y	C	-	2	0	ACVR1C	158151974	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.173000	0.77612	2.628000	0.89032	0.650000	0.86243	TGC		PASS	0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		8	42	8	42	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166892736	166892736	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:166892736C>G	ENST00000303395.4	-	16	3250	c.3251G>C	c.(3250-3252)aGt>aCt	p.S1084T	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1084T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1056T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1073T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1084					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S1073T(1)|p.S1084T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTATACCACTTGTAGTTCC	0.348																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3217-3219)AGT>ACT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						179.0	169.0	172.0					2																	166892736		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892736C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3251G>C	2.37:g.166892736C>G	ENSP00000303540:p.Ser1084Thr					SCN1A_uc002udo.3_Missense_Mutation_p.S953T|SCN1A_uc010fpk.2_Missense_Mutation_p.S925T	p.S1073T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3236	-			1084					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3218G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225573	0.39300	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	L	0.51422	1.61	0.36041	D	0.84011	B;D;B	0.53885	0.004;0.963;0.078	B;D;B	0.67231	0.006;0.95;0.09	D	0.89081	0.3476	10	0.37606	T	0.19	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	1073;1056;1084	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1084;1084;1073;1056	ENSP00000407030:S1084T;ENSP00000303540:S1084T;ENSP00000364554:S1073T;ENSP00000386312:S1056T	ENSP00000303540:S1084T	S	-	2	0	SCN1A	166600982	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.993000	0.49425	2.709000	0.92574	0.655000	0.94253	AGT		PASS	0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	9	12	9	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166900488	166900488	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:166900488T>A	ENST00000303395.4	-	11	1733	c.1734A>T	c.(1732-1734)agA>agT	p.R578S	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R578S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R578S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R578S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	578					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R578S(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTCGCCCTCTAAAGCTGA	0.463																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1732-1734)AGA>AGT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	97.0	98.0					2																	166900488		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900488T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1734A>T	2.37:g.166900488T>A	ENSP00000303540:p.Arg578Ser					SCN1A_uc002udo.3_Missense_Mutation_p.R447S|SCN1A_uc010fpk.2_Missense_Mutation_p.R447S	p.R578S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1752	-			578					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1734A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112506	0.56398	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.59	1.97	0.26223	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.97554	0.9199	M	0.90922	3.16	0.37035	D	0.896874	P;P;D	0.63046	0.557;0.611;0.992	B;B;P	0.58013	0.234;0.346;0.831	D	0.97679	1.0171	10	0.87932	D	0	.	9.0707	0.36491	0.0:0.2101:0.0:0.7899	.	578;578;578	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	578	ENSP00000407030:R578S;ENSP00000303540:R578S;ENSP00000364554:R578S;ENSP00000386312:R578S	ENSP00000303540:R578S	R	-	3	2	SCN1A	166608734	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.616000	0.36933	0.397000	0.25310	-0.411000	0.06167	AGA		PASS	0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		9	26	9	26	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170022562	170022562	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:170022562C>G	ENST00000263816.3	-	62	11923	c.11638G>C	c.(11638-11640)Gat>Cat	p.D3880H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3880	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D3880H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGGGAACATCCACTGAAAGG	0.403																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11638-11640)GAT>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						129.0	120.0	123.0					2																	170022562		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170022562C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11638G>C	2.37:g.170022562C>G	ENSP00000263816:p.Asp3880His						p.D3880H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	62	11851	-			3880			LDL-receptor class A 34.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11638G>C	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.387954|2.387954	0.42308|0.42308	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.89939|.	-2.59|.	6.06|6.06	-5.01|-5.01	0.02991|0.02991	.|.	0.680982|.	0.15243|.	N|.	0.272768|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.36672|0.36672	1.1|1.1	0.42608|0.42608	D|D	0.993307|0.993307	B|.	0.32526|.	0.374|.	B|.	0.37267|.	0.245|.	T|T	0.52815|0.52815	-0.8525|-0.8525	10|6	0.48119|0.36615	T|T	0.1|0.2	.|.	12.2036|12.2036	0.54340|0.54340	0.1512:0.7098:0.0:0.139|0.1512:0.7098:0.0:0.139	.|.	3880|.	P98164|.	LRP2_HUMAN|.	H|C	3880|544	ENSP00000263816:D3880H|.	ENSP00000263816:D3880H|ENSP00000438157:W544C	D|W	-|-	1|3	0|0	LRP2|LRP2	169730808|169730808	0.914000|0.914000	0.31030|0.31030	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.788000|0.788000	0.26872|0.26872	-0.766000|-0.766000	0.04639|0.04639	-0.966000|-0.966000	0.02617|0.02617	GAT|TGG		PASS	0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	23	12	23	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191899283	191899283	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:191899283C>G	ENST00000392320.2	-	18	1925	c.1611G>C	c.(1609-1611)aaG>aaC	p.K537N	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.K537N|STAT4_ENST00000470708.1_5'Flank	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	537					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K537N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCTTGCAGAACTTGGCCCAGG	0.368																																						uc002usm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(1609-1611)AAG>AAC		signal transducer and activator of transcription							143.0	134.0	137.0					2																	191899283		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191899283C>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1611G>C	2.37:g.191899283C>G	ENSP00000376134:p.Lys537Asn					STAT4_uc002usn.1_Missense_Mutation_p.K537N|STAT4_uc010zgk.1_Missense_Mutation_p.K382N|STAT4_uc002uso.2_Missense_Mutation_p.K537N	p.K537N	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		18	1865	-			537					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1611G>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760490	0.89932	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.88354	-2.37;-2.37	5.54	5.54	0.83059	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.241384	0.46758	D	0.000278	D	0.93064	0.7792	L	0.60845	1.875	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;D	0.64410	0.899;0.899;0.925	D	0.93250	0.6634	10	0.72032	D	0.01	-44.2197	18.8368	0.92165	0.0:1.0:0.0:0.0	.	446;537;537	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	537	ENSP00000351255:K537N;ENSP00000376134:K537N	ENSP00000351255:K537N	K	-	3	2	STAT4	191607528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.718000	0.74713	2.764000	0.94973	0.650000	0.86243	AAG		PASS	0.368	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		3	42	3	42	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878319	197878319	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:197878319C>T	ENST00000328737.2	-	18	1841	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	ANKRD44_ENST00000337207.5_Missense_Mutation_p.E589K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E589K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E606K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	614								p.E429Q(1)|p.E429K(1)|p.E589Q(1)|p.E589K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACACATTCTGTGTGTCCT	0.502																																						uc002uua.1																			4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(1)	5						c.(1765-1767)GAA>AAA		ankyrin repeat domain 44							224.0	213.0	217.0					2																	197878319		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197878319C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1765G>A	2.37:g.197878319C>T	ENSP00000331516:p.Glu589Lys					ANKRD44_uc002utz.3_Missense_Mutation_p.E321K	p.E589K	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1842	-			614			ANK 18.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1765G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.367402	0.95900	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.43	4.43	0.53597	.	0.119549	0.56097	D	0.000028	T	0.76047	0.3933	L	0.47016	1.485	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	T	0.78816	-0.2055	10	0.62326	D	0.03	.	17.2648	0.87083	0.0:1.0:0.0:0.0	.	632	Q8N8A2-2	.	K	429;606;589;589;589;289	ENSP00000403415:E429K;ENSP00000282272:E606K;ENSP00000331516:E589K;ENSP00000402420:E589K;ENSP00000338794:E589K;ENSP00000416319:E289K	ENSP00000282272:E606K	E	-	1	0	ANKRD44	197586564	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.683000	0.61679	2.294000	0.77228	0.655000	0.94253	GAA		PASS	0.502	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		13	216	13	216	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202598015	202598015	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:202598015G>A	ENST00000264276.6	-	13	2936	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V	ALS2_ENST00000457679.2_Missense_Mutation_p.A167V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	855	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A855V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAAACAAGTAGCAAGCTTTAG	0.378																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(2563-2565)GCT>GTT		alsin isoform 1							91.0	81.0	84.0					2																	202598015		1840	4097	5937	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202598015G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2564C>T	2.37:g.202598015G>A	ENSP00000264276:p.Ala855Val					ALS2_uc002uyp.3_Missense_Mutation_p.A855V|ALS2_uc010ftl.2_RNA	p.A855V	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			13	2920	-			855			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2564C>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164534	0.57476	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63417	-0.04;-0.04	5.56	4.67	0.58626	Dbl homology (DH) domain (4);	0.112003	0.64402	D	0.000013	T	0.64746	0.2626	L	0.32530	0.975	0.80722	D	1	D;B	0.63046	0.992;0.412	P;B	0.57009	0.811;0.366	T	0.62320	-0.6879	10	0.29301	T	0.29	.	15.7956	0.78407	0.0:0.0:0.8628:0.1372	.	855;855	Q6IQ41;Q96Q42	.;ALS2_HUMAN	V	855;167	ENSP00000264276:A855V;ENSP00000394823:A167V	ENSP00000264276:A855V	A	-	2	0	ALS2	202306260	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.082000	0.76851	1.324000	0.45282	-0.203000	0.12734	GCT		PASS	0.378	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	16	5	16	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206869230	206869230	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:206869230C>A	ENST00000403263.1	-	11	3350	c.2946G>T	c.(2944-2946)caG>caT	p.Q982H		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q982H(1)|p.Q877H(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAGAACTCAGCTGGTGGCCAA	0.567																																						uc002vaz.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2944-2946)CAG>CAT		INO80 complex subunit D							45.0	48.0	47.0					2																	206869230		2064	4214	6278	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869230C>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2946G>T	2.37:g.206869230C>A	ENSP00000384198:p.Gln982His						p.Q982H	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	3351	-			Error:Variant_position_missing_in_Q53TQ3_after_alignment					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2946G>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013848	0.54468	.	.	ENSG00000114933	ENST00000403263	T	0.46451	0.87	5.73	5.73	0.89815	.	.	.	.	.	T	0.53997	0.1831	N	0.24115	0.695	0.49130	D	0.999755	D	0.69078	0.997	D	0.81914	0.995	T	0.57596	-0.7784	9	0.72032	D	0.01	.	19.9022	0.96990	0.0:1.0:0.0:0.0	.	982	Q53TQ3-2	.	H	982	ENSP00000384198:Q982H	ENSP00000384198:Q982H	Q	-	3	2	INO80D	206577475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.694000	0.47035	2.687000	0.91594	0.655000	0.94253	CAG		PASS	0.567	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		3	25	3	25	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211476995	211476995	+	Missense_Mutation	SNP	C	C	A	rs368785491		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:211476995C>A	ENST00000233072.5	+	20	2742	c.2546C>A	c.(2545-2547)aCg>aAg	p.T849K	CPS1_ENST00000451903.2_Missense_Mutation_p.T398K|CPS1_ENST00000430249.2_Missense_Mutation_p.T855K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	849					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T855K(2)|p.T849K(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAAGCAGCACGCGTATCTAT	0.428																																						uc002vee.3																			4	Substitution - Missense(4)		lung(4)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2545-2547)ACG>AAG		carbamoyl-phosphate synthetase 1 isoform b							100.0	98.0	99.0					2																	211476995		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476995C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2546C>A	2.37:g.211476995C>A	ENSP00000233072:p.Thr849Lys					CPS1_uc010fur.2_Missense_Mutation_p.T855K|CPS1_uc010fus.2_Missense_Mutation_p.T398K	p.T849K	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2678	+			849					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2546C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	1.775	-0.483409	0.04383	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96200	-3.94;-3.94;-3.94	5.41	2.62	0.31277	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.046415	0.85682	D	0.000000	D	0.85643	0.5744	N	0.05414	-0.055	0.47778	D	0.999512	B;B	0.13594	0.008;0.002	B;B	0.15052	0.012;0.012	T	0.75602	-0.3261	10	0.02654	T	1	-0.0891	10.1867	0.43002	0.0:0.7315:0.0:0.2685	.	859;849	Q59HF8;P31327	.;CPSM_HUMAN	K	855;857;849;398	ENSP00000402608:T855K;ENSP00000233072:T849K;ENSP00000406136:T398K	ENSP00000233072:T849K	T	+	2	0	CPS1	211185240	0.971000	0.33674	0.990000	0.47175	0.620000	0.37586	2.014000	0.40951	0.257000	0.21650	0.557000	0.71058	ACG		PASS	0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			3	22	3	22	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228102699	228102699	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:228102699G>C	ENST00000396578.3	+	2	265	c.103G>C	c.(103-105)Gac>Cac	p.D35H	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	35	7S domain.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.D35H(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTCTGTAAAGACAAAGGCCA	0.428																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(103-105)GAC>CAC		alpha 3 type IV collagen isoform 1 precursor							191.0	185.0	187.0					2																	228102699		1843	4083	5926	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228102699G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.103G>C	2.37:g.228102699G>C	ENSP00000379823:p.Asp35His					COL4A3_uc002von.1_Missense_Mutation_p.D35H|COL4A3_uc002voo.1_Missense_Mutation_p.D35H|COL4A3_uc002vop.1_Missense_Mutation_p.D35H|uc002voq.1_Intron	p.D35H	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	2	265	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	35			7S domain.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.103G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382112	0.61845	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.91351	-2.83	4.95	4.95	0.65309	.	0.765081	0.11747	N	0.533426	D	0.89836	0.6830	N	0.08118	0	0.09310	N	0.999998	D;D;D;D	0.89917	1.0;0.975;1.0;0.999	D;P;D;D	0.78314	0.987;0.76;0.991;0.962	T	0.82839	-0.0259	10	0.45353	T	0.12	.	14.0362	0.64646	0.0:0.0:1.0:0.0	.	35;35;35;35	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	H	35	ENSP00000379823:D35H	ENSP00000323334:D35H	D	+	1	0	COL4A3	227810943	0.939000	0.31865	0.358000	0.25811	0.856000	0.48823	3.196000	0.51020	2.454000	0.82982	0.591000	0.81541	GAC		PASS	0.428	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		4	117	4	117	---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234652362	234652362	+	Intron	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:234652362G>A	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000608381.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A4_ENST00000373409.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CCTCGCCATAGCGGTCATAGA	0.622																																						uc002vuz.2																			0					0						c.(199-201)CGC>CGT		DnaJ (Hsp40) homolog, subfamily B, member 3							117.0	128.0	125.0					2																	234652362		2022	4192	6214	SO:0001627	intron_variant	414061				protein folding		heat shock protein binding|unfolded protein binding	g.chr2:234652362G>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23318G>A	2.37:g.234652362G>A						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	p.R67R	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN			1	300	-			67			J.		A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.201C>T	CCDS2507.1																																																																																				PASS	0.622	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		165	503	165	503	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	239975206	239975206	+	Silent	SNP	C	C	T	rs114003127	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr2:239975206C>T	ENST00000345617.3	-	26	3956	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	HDAC4_ENST00000543185.1_Silent_p.T639T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1055	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T1055T(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGCGGTGACCGTCTCGGCTT	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14331	0.001		0.0	False		,,,				2504	0.0					uc002vyk.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(3163-3165)ACG>ACA		histone deacetylase 4		C		4,4402	8.1+/-20.4	0,4,2199	43.0	51.0	48.0		3165	-9.1	0.8	2	dbSNP_132	48	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	HDAC4	NM_006037.3		0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538		1055/1085	239975206	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239975206C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3165G>A	2.37:g.239975206C>T						HDAC4_uc010fyy.2_Silent_p.T1012T	p.T1055T	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	26	3957	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1055			Nuclear export signal (By similarity).|Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.3165G>A	CCDS2529.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.94	1.492139	0.26774	9.08E-4	3.49E-4	ENSG00000068024	ENST00000430200	.	.	.	4.57	-9.13	0.00704	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39683	-0.9602	4	.	.	.	.	0.9202	0.01313	0.3309:0.0982:0.2056:0.3653	.	.	.	.	Q	146	.	.	R	-	2	0	HDAC4	239640143	0.000000	0.05858	0.831000	0.32960	0.956000	0.61745	-7.847000	0.00029	-1.681000	0.01448	0.650000	0.86243	CGG		PASS	0.672	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		61	163	61	163	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9971821	9971821	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:9971821C>A	ENST00000295981.3	+	14	1697	c.1479C>A	c.(1477-1479)agC>agA	p.S493R	IL17RC_ENST00000413608.1_Missense_Mutation_p.S422R|IL17RC_ENST00000455057.1_Missense_Mutation_p.S390R|IL17RC_ENST00000416074.2_Missense_Mutation_p.S261R|IL17RC_ENST00000383812.4_Missense_Mutation_p.S407R|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000403601.3_Missense_Mutation_p.S422R	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	493					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.S493R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACTACCCAGCAAAGCCTCCA	0.562																																						uc003bua.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1477-1479)AGC>AGA		interleukin 17 receptor C isoform 1 precursor							76.0	71.0	72.0					3																	9971821		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9971821C>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1479C>A	3.37:g.9971821C>A	ENSP00000295981:p.Ser493Arg					CIDEC_uc003bto.2_Intron|IL17RC_uc010hcs.2_Missense_Mutation_p.S397R|IL17RC_uc003btz.2_Missense_Mutation_p.S422R|IL17RC_uc011atp.1_Missense_Mutation_p.S261R|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Missense_Mutation_p.S407R|IL17RC_uc010hct.2_Missense_Mutation_p.S422R|IL17RC_uc010hcu.2_Missense_Mutation_p.S405R|IL17RC_uc010hcv.2_Missense_Mutation_p.S390R|IL17RC_uc011atq.1_Missense_Mutation_p.S407R|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_Missense_Mutation_p.S58R	p.S493R	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			14	1715	+			493			Extracellular (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1479C>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522975	0.44866	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.84	4.04	0.47022	.	0.000000	0.64402	D	0.000001	T	0.44891	0.1315	M	0.63843	1.955	0.30162	N	0.802131	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.997;1.0;1.0;0.994;1.0	D;D;D;D;P;P;D;D;P;D	0.91635	0.984;0.998;0.975;0.975;0.889;0.889;0.996;0.989;0.878;0.999	T	0.46679	-0.9174	10	0.72032	D	0.01	-23.6224	9.3481	0.38120	0.0:0.8363:0.0:0.1637	.	407;261;390;405;422;422;261;407;493;422	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;.;I17RC_HUMAN;.	R	407;493;397;422;261;390;422	ENSP00000373323:S407R;ENSP00000295981:S493R;ENSP00000401128:S397R;ENSP00000384969:S422R;ENSP00000395315:S261R;ENSP00000407894:S390R;ENSP00000396064:S422R	ENSP00000295981:S493R	S	+	3	2	IL17RC	9946821	0.908000	0.30866	0.956000	0.39512	0.254000	0.26022	1.626000	0.37039	0.802000	0.34089	0.561000	0.74099	AGC		PASS	0.562	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		4	141	4	141	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35786047	35786047	+	Intron	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:35786047G>T	ENST00000187397.4	+	18	2488				ARPP21_ENST00000337271.5_Intron|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTTCCCTACTGTGTCACACTC	0.567																																						hsa-mir-128-2|MI0000727																			0					0															68.0	68.0	68.0					3																	35786047		1568	3582	5150	SO:0001627	intron_variant	406916							g.chr3:35786047G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2032+590G>T	3.37:g.35786047G>T						ARPP21_uc003cga.2_Intron|ARPP21_uc003cgb.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron|ARPP21_uc003cgg.2_Intron|uc011axz.1_RNA										+								B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	RNA	SNP	ENST00000187397.4	37	c.80G>T	CCDS2661.1																																																																																				PASS	0.567	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	1	5	1	---	---	---	---
LRRFIP2	9209	broad.mit.edu	37	3	37152528	37152528	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:37152528T>C	ENST00000336686.4	-	9	547	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	LRRFIP2_ENST00000421307.1_Missense_Mutation_p.Y156C|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	156	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)|p.Y156C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAGACTGCTATAGTTTCTCTG	0.353																																						uc003cgp.2																			2	Substitution - Missense(1)|Whole gene deletion(1)		ovary(1)|lung(1)	ovary(1)	1						c.(466-468)TAT>TGT		leucine rich repeat (in FLII) interacting							107.0	95.0	99.0					3																	37152528		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37152528T>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.467A>G	3.37:g.37152528T>C	ENSP00000338727:p.Tyr156Cys					LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	p.Y156C	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			10	890	-			156			DVL3-binding.|Ser-rich.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.467A>G	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180571	0.78677	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.49139	0.79;0.79	5.76	5.76	0.90799	.	0.142716	0.48286	D	0.000189	T	0.50120	0.1597	N	0.08118	0	0.50467	D	0.999873	D	0.89917	1.0	D	0.85130	0.997	T	0.60255	-0.7299	10	0.54805	T	0.06	-21.6022	15.7339	0.77827	0.0:0.0:0.0:1.0	.	156	Q9Y608	LRRF2_HUMAN	C	156	ENSP00000392217:Y156C;ENSP00000338727:Y156C	ENSP00000338727:Y156C	Y	-	2	0	LRRFIP2	37127532	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.818000	0.69236	2.202000	0.70862	0.477000	0.44152	TAT		PASS	0.353	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		5	2	5	2	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47045732	47045732	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:47045732A>G	ENST00000450053.3	+	37	6226	c.6047A>G	c.(6046-6048)cAg>cGg	p.Q2016R	NBEAL2_ENST00000383740.2_Missense_Mutation_p.Q295R|NBEAL2_ENST00000292309.5_Missense_Mutation_p.Q1832R	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2016					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.Q2016R(1)|p.Q1393R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTCCTAGCCAGACTCCCAGA	0.607																																						uc003cqp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(6046-6048)CAG>CGG		neurobeachin-like 2							126.0	130.0	129.0					3																	47045732		2034	4180	6214	SO:0001583	missense	23218						binding	g.chr3:47045732A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6047A>G	3.37:g.47045732A>G	ENSP00000415034:p.Gln2016Arg					NBEAL2_uc010hjm.1_Missense_Mutation_p.Q1393R|NBEAL2_uc010hjn.1_Missense_Mutation_p.Q412R|NBEAL2_uc010hjo.1_5'Flank	p.Q2016R	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	37	6226	+		Acute lymphoblastic leukemia(5;0.0534)	2016					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.6047A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.863|0.863	-0.734691|-0.734691	0.03111|0.03111	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.56776|.	0.44;1.05;0.44|.	4.07|4.07	1.61|1.61	0.23674|0.23674	.|.	1.025690|.	0.07775|.	N|.	0.952437|.	T|T	0.19967|0.19967	0.0480|0.0480	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.25751|.	T|.	0.34|.	.|.	4.9664|4.9664	0.14093|0.14093	0.7139:0.1861:0.0999:0.0|0.7139:0.1861:0.0999:0.0	.|.	1832;2016|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	R|G	1832;295;2016|1304	ENSP00000292309:Q1832R;ENSP00000373246:Q295R;ENSP00000415034:Q2016R|.	ENSP00000292309:Q1832R|.	Q|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47020736|47020736	0.002000|0.002000	0.14202|0.14202	0.010000|0.010000	0.14722|0.14722	0.130000|0.130000	0.20726|0.20726	0.157000|0.157000	0.16402|0.16402	0.237000|0.237000	0.21200|0.21200	0.402000|0.402000	0.26972|0.26972	CAG|AGA		PASS	0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		257	148	257	148	---	---	---	---
APEH	327	broad.mit.edu	37	3	49720046	49720046	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:49720046C>T	ENST00000296456.5	+	19	2160	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	AC099668.5_ENST00000563780.1_RNA|APEH_ENST00000438011.1_Missense_Mutation_p.S587F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	587					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.S587F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGGGTGGTTCCCATGGTGGC	0.572																																						uc003cxf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1759-1761)TCC>TTC		N-acylaminoacyl-peptide hydrolase							185.0	168.0	174.0					3																	49720046		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720046C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1760C>T	3.37:g.49720046C>T	ENSP00000296456:p.Ser587Phe					APEH_uc010hkw.1_Missense_Mutation_p.S587F	p.S587F	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	19	2160	+			587				Charge relay system.	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1760C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682550	0.88542	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	D;D	0.81908	-1.55;-1.55	5.27	5.27	0.74061	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95983	0.8979	10	0.87932	D	0	-40.2301	18.889	0.92391	0.0:1.0:0.0:0.0	.	587;587	C9JIF9;P13798	.;ACPH_HUMAN	F	587	ENSP00000296456:S587F;ENSP00000415862:S587F	ENSP00000296456:S587F	S	+	2	0	APEH	49695050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.455000	0.83008	0.655000	0.94253	TCC		PASS	0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			151	262	151	262	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50679721	50679721	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:50679721C>T	ENST00000446044.1	+	7	1058	c.462C>T	c.(460-462)atC>atT	p.I154I	MAPKAPK3_ENST00000357955.2_Silent_p.I154I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.I154I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GCACTGCCATCCAGTTTCTGC	0.552																																						uc003day.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(460-462)ATC>ATT		mitogen-activated protein kinase-activated							86.0	80.0	82.0					3																	50679721		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50679721C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.462C>T	3.37:g.50679721C>T						MAPKAPK3_uc003daz.1_Silent_p.I154I|MAPKAPK3_uc003dba.1_Silent_p.I154I|MAPKAPK3_uc010hlr.1_Silent_p.I154I	p.I154I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	7	1058	+			154			Protein kinase.		B5BU67	Silent	SNP	ENST00000446044.1	37	c.462C>T	CCDS2832.1																																																																																				PASS	0.552	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		58	18	58	18	---	---	---	---
ACY1	95	broad.mit.edu	37	3	52021589	52021589	+	Silent	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:52021589G>T	ENST00000404366.2	+	12	1016	c.870G>T	c.(868-870)ctG>ctT	p.L290L	ACY1_ENST00000476351.1_Silent_p.L255L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L391L|ACY1_ENST00000458031.2_Silent_p.L380L|ACY1_ENST00000476854.1_Silent_p.L225L|ACY1_ENST00000494103.1_Silent_p.L218L	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	290					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L290L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	AGGAGCAGCTGCAGAGCTGGT	0.592																																						uc003dcp.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(868-870)CTG>CTT		aminoacylase 1	L-Aspartic Acid(DB00128)						43.0	47.0	46.0					3																	52021589		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52021589G>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.870G>T	3.37:g.52021589G>T						ACY1_uc011bea.1_Silent_p.L380L|ACY1_uc011beb.1_Silent_p.L290L|ACY1_uc003dcq.2_Silent_p.L290L	p.L290L	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	12	931	+			290					C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	c.870G>T	CCDS2844.1																																																																																				PASS	0.592	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		4	80	4	80	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77607299	77607299	+	Splice_Site	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:77607299G>A	ENST00000461745.1	+	9	2336	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	ROBO2_ENST00000487694.3_Splice_Site_p.R495Q|ROBO2_ENST00000332191.8_Splice_Site_p.R479Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	479	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.R495Q(1)|p.R479Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATTTACGGGTAAGTAAT	0.358																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1435-1437)CGG>CAG		roundabout, axon guidance receptor, homolog 2							69.0	67.0	67.0					3																	77607299		1868	4109	5977	SO:0001630	splice_region_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77607299G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1437+1G>A	3.37:g.77607299G>A						ROBO2_uc003dpz.2_Missense_Mutation_p.R483Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R483Q	p.R479Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	9	2079	+			479			Ig-like C2-type 5.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1436G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	4.371	0.068417	0.08436	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.26660	1.72;1.72;1.72	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000733	T	0.13030	0.0316	N	0.04724	-0.175	0.34684	D	0.725072	B;B;B	0.28760	0.221;0.185;0.221	B;B;B	0.28784	0.094;0.056;0.094	T	0.07328	-1.0778	9	0.02654	T	1	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	495;479;479	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	495;495;499;479;479;200	ENSP00000417335:R495Q;ENSP00000417164:R479Q;ENSP00000327536:R479Q	ENSP00000327536:R479Q	R	+	2	0	ROBO2	77689989	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	3.908000	0.56355	2.843000	0.97960	0.585000	0.79938	CGG		PASS	0.358	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	Missense_Mutation	4	6	4	6	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89521680	89521680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:89521680G>A	ENST00000336596.2	+	16	2982	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	919	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.W919*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTGACTGGCTTAATGGTG	0.448										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - Nonsense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2755-2757)TGG>TGA		ephrin receptor EphA3 isoform a precursor							166.0	155.0	159.0					3																	89521680		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521680G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2757G>A	3.37:g.89521680G>A	ENSP00000337451:p.Trp919*	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.W919*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	2982	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	919			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.2757G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	42	9.292393	0.99127	.	.	ENSG00000044524	ENST00000336596	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8966	0.96963	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	EPHA3	89604370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.700000	0.92200	0.655000	0.94253	TGG		PASS	0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		67	21	67	21	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100354555	100354555	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:100354555C>T	ENST00000273352.3	+	5	750	c.482C>T	c.(481-483)tCt>tTt	p.S161F	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S161F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAACATTTCTTCTGAAGTC	0.368																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(481-483)TCT>TTT		G protein-coupled receptor 128 precursor							110.0	110.0	110.0					3																	100354555		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100354555C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.482C>T	3.37:g.100354555C>T	ENSP00000273352:p.Ser161Phe					GPR128_uc011bhc.1_5'UTR	p.S161F	NM_032787	NP_116176	Q96K78	GP128_HUMAN			5	750	+			161			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.482C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791035	0.50102	.	.	ENSG00000144820	ENST00000273352	T	0.51071	0.72	5.65	5.65	0.86999	.	0.231080	0.30890	N	0.008674	T	0.61553	0.2356	M	0.65975	2.015	0.80722	D	1	D	0.58970	0.984	P	0.57425	0.82	T	0.59375	-0.7466	10	0.38643	T	0.18	.	15.2182	0.73288	0.0:1.0:0.0:0.0	.	161	Q96K78	GP128_HUMAN	F	161	ENSP00000273352:S161F	ENSP00000273352:S161F	S	+	2	0	GPR128	101837245	0.981000	0.34729	0.736000	0.30914	0.008000	0.06430	3.399000	0.52586	2.662000	0.90505	0.591000	0.81541	TCT		PASS	0.368	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			18	17	18	17	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100962542	100962542	+	Missense_Mutation	SNP	A	A	T	rs540069040		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:100962542A>T	ENST00000193391.7	-	13	2820	c.2633T>A	c.(2632-2634)gTt>gAt	p.V878D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	878					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.V878D(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGCCACACTAACCATCTCTGT	0.463																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2632-2634)GTT>GAT		interphotoreceptor matrix proteoglycan 2							162.0	145.0	151.0					3																	100962542		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962542A>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2633T>A	3.37:g.100962542A>T	ENSP00000193391:p.Val878Asp					IMPG2_uc011bhe.1_Missense_Mutation_p.V741D	p.V878D	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2836	-			878			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2633T>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.670841	0.29693	.	.	ENSG00000081148	ENST00000193391	T	0.23348	1.91	5.09	1.01	0.19927	.	0.327760	0.29059	N	0.013266	T	0.09512	0.0234	N	0.08118	0	0.44871	D	0.997882	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.22312	-1.0220	10	0.17832	T	0.49	-0.1351	4.2369	0.10630	0.1443:0.1251:0.6013:0.1293	.	878;878	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	878	ENSP00000193391:V878D	ENSP00000193391:V878D	V	-	2	0	IMPG2	102445232	0.993000	0.37304	0.391000	0.26233	0.913000	0.54294	1.700000	0.37815	-0.028000	0.13850	0.254000	0.18369	GTT		PASS	0.463	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			20	17	20	17	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108723688	108723688	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:108723688A>G	ENST00000483760.1	-	19	2041	c.1998T>C	c.(1996-1998)acT>acC	p.T666T	MORC1_ENST00000232603.5_Silent_p.T687T					MORC family CW-type zinc finger 1									p.T687T(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						GGCACCCTTCAGTTGGTTGAG	0.358																																						uc003dxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2059-2061)ACT>ACC		MORC family CW-type zinc finger 1							174.0	194.0	187.0					3																	108723688		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108723688A>G	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.1998T>C	3.37:g.108723688A>G						MORC1_uc011bhn.1_Silent_p.T666T	p.T687T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			20	2148	-			687						Silent	SNP	ENST00000483760.1	37	c.2061T>C																																																																																					PASS	0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			45	107	45	107	---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119305233	119305233	+	Missense_Mutation	SNP	C	C	T	rs137924029	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:119305233C>T	ENST00000478399.1	+	3	1805	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ADPRH_ENST00000478927.1_Missense_Mutation_p.R134W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R134W|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.R134W			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	134					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.R134W(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCTGCCATGCGGGCCATGTG	0.612																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)CGG>TGG		ADP-ribosylarginine hydrolase		C	TRP/ARG	0,4406		0,0,2203	103.0	102.0	102.0		400	4.6	1.0	3	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADPRH	NM_001125.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	134/358	119305233	2,13004	2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305233C>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.400C>T	3.37:g.119305233C>T	ENSP00000420200:p.Arg134Trp					ADPRH_uc010hqv.2_Missense_Mutation_p.R134W|ADPRH_uc011bjb.1_Missense_Mutation_p.R27W|ADPRH_uc003ect.2_Missense_Mutation_p.R134W	p.R134W	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	4	698	+		Lung NSC(201;0.0977)	134					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.400C>T	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409787	0.83340	0.0	2.33E-4	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.93550	3.43	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.86084	0.1546	10	0.87932	D	0	-10.3473	13.3903	0.60821	0.1584:0.8416:0.0:0.0	.	134	P54922	ADPRH_HUMAN	W	134	ENSP00000420200:R134W;ENSP00000417528:R134W;ENSP00000349496:R134W;ENSP00000417430:R134W	ENSP00000349496:R134W	R	+	1	2	ADPRH	120787923	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.305000	0.51873	1.519000	0.48950	0.655000	0.94253	CGG		PASS	0.612	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		8	694	8	694	---	---	---	---
SEC22A	26984	broad.mit.edu	37	3	122942416	122942416	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:122942416T>C	ENST00000309934.4	+	2	1089	c.193T>C	c.(193-195)Tct>Cct	p.S65P	SEC22A_ENST00000492595.1_Missense_Mutation_p.S65P|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	65	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S65P(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TTTTATTAGCTCTCTGGGAGT	0.358																																						uc003ege.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)TCT>CCT		SEC22 vesicle trafficking protein homolog A							144.0	145.0	145.0					3																	122942416		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122942416T>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.193T>C	3.37:g.122942416T>C	ENSP00000310521:p.Ser65Pro					SEC22A_uc003egf.2_Missense_Mutation_p.S65P	p.S65P	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	3	272	+			65			Cytoplasmic (Potential).|Longin.		B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.193T>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482378	0.63962	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000466519;ENST00000480631;ENST00000491366;ENST00000487572;ENST00000309934	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.67	4.67	0.58626	Longin (2);Longin-like (1);	0.056627	0.64402	D	0.000001	T	0.42944	0.1225	M	0.78456	2.415	0.58432	D	0.999999	D	0.55172	0.97	P	0.58928	0.848	T	0.42292	-0.9460	10	0.51188	T	0.08	-0.0232	14.2459	0.65988	0.0:0.0:0.0:1.0	.	65	Q96IW7	SC22A_HUMAN	P	65	ENSP00000417972:S65P;ENSP00000420343:S65P;ENSP00000419039:S65P;ENSP00000420574:S65P;ENSP00000417219:S65P;ENSP00000420015:S65P;ENSP00000310521:S65P	ENSP00000310521:S65P	S	+	1	0	SEC22A	124425106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.812000	0.62613	1.935000	0.56089	0.533000	0.62120	TCT		PASS	0.358	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		40	102	40	102	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137483637	137483637	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:137483637C>A	ENST00000306087.1	+	1	59	c.11C>A	c.(10-12)cCt>cAt	p.P4H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	4					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P4H(1)		large_intestine(2)|lung(12)	14						ATGTCCAAACCTTCAGACCAC	0.637																																						uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CCT>CAT		SRY-box 14							54.0	62.0	59.0					3																	137483637		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483637C>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.11C>A	3.37:g.137483637C>A	ENSP00000305343:p.Pro4His						p.P4H	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	59	+			4					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.11C>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934060	0.73442	.	.	ENSG00000168875	ENST00000306087	D	0.99232	-5.6	4.86	4.86	0.63082	High mobility group, superfamily (1);	0.228764	0.37530	N	0.002053	D	0.99190	0.9719	M	0.72894	2.215	0.80722	D	1	D	0.64830	0.994	D	0.63192	0.912	D	0.99282	1.0896	10	0.41790	T	0.15	.	17.7837	0.88531	0.0:1.0:0.0:0.0	.	4	O95416	SOX14_HUMAN	H	4	ENSP00000305343:P4H	ENSP00000305343:P4H	P	+	2	0	SOX14	138966327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.535000	0.85469	0.511000	0.50034	CCT		PASS	0.637	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		52	401	52	401	---	---	---	---
SUCNR1	56670	broad.mit.edu	37	3	151598819	151598819	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:151598819C>T	ENST00000362032.5	+	3	593	c.488C>T	c.(487-489)cCt>cTt	p.P163L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	163						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P163L(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CTTATAAATCCTGTTATAACT	0.403																																						uc003ezf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)CCT>CTT		succinate receptor 1	Succinic acid(DB00139)						160.0	157.0	158.0					3																	151598819		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598819C>T	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.488C>T	3.37:g.151598819C>T	ENSP00000355156:p.Pro163Leu						p.P163L	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	587	+			163			Extracellular (Potential).		A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.488C>T	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	C	8.312	0.822375	0.16678	.	.	ENSG00000198829	ENST00000362032	T	0.35973	1.28	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.487143	0.21255	U	0.077567	T	0.26955	0.0660	N	0.16790	0.44	0.09310	N	1	P	0.34864	0.473	B	0.38106	0.265	T	0.20438	-1.0275	10	0.39692	T	0.17	.	13.292	0.60276	0.1581:0.8419:0.0:0.0	.	163	Q9BXA5	SUCR1_HUMAN	L	163	ENSP00000355156:P163L	ENSP00000355156:P163L	P	+	2	0	SUCNR1	153081509	0.001000	0.12720	0.009000	0.14445	0.002000	0.02628	1.542000	0.36137	2.646000	0.89796	0.655000	0.94253	CCT		PASS	0.403	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		45	98	45	98	---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185337233	185337233	+	Silent	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:185337233C>G	ENST00000296257.5	+	13	1629	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	SENP2_ENST00000545472.1_Silent_p.L453L|SENP2_ENST00000427465.2_Silent_p.L287L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	463	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.L463L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGGTAAATCTCTTTGAACAAG	0.408																																						uc003fpn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1387-1389)CTC>CTG		SUMO1/sentrin/SMT3 specific protease 2							75.0	76.0	76.0					3																	185337233		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185337233C>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1389C>G	3.37:g.185337233C>G						SENP2_uc011brv.1_Silent_p.L453L|SENP2_uc011brw.1_Silent_p.L276L	p.L463L	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		13	1560	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		463			Protease.		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.1389C>G	CCDS33902.1																																																																																				PASS	0.408	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		93	55	93	55	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187449662	187449662	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:187449662T>C	ENST00000406870.2	-	4	584	c.218A>G	c.(217-219)aAt>aGt	p.N73S	BCL6_ENST00000450123.2_Missense_Mutation_p.N73S|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.N73S	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	73	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N73S(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGATCTAGATTGATCACACT	0.443			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(217-219)AAT>AGT		B-cell lymphoma 6 protein isoform 1							106.0	86.0	92.0					3																	187449662		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187449662T>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.218A>G	3.37:g.187449662T>C	ENSP00000384371:p.Asn73Ser					BCL6_uc011bsf.1_Missense_Mutation_p.N73S|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Missense_Mutation_p.N73S	p.N73S	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	675	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		73			BTB.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.218A>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	6.368	0.436092	0.12104	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.65	5.65	0.86999	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.040847	0.85682	D	0.000000	T	0.60573	0.2279	N	0.01576	-0.805	0.51233	D	0.999911	B;D	0.67145	0.049;0.996	B;D	0.68765	0.016;0.96	T	0.64651	-0.6357	10	0.12766	T	0.61	.	15.364	0.74507	0.0:0.0:0.0:1.0	.	73;73	B8PSA7;P41182	.;BCL6_HUMAN	S	73	ENSP00000384371:N73S;ENSP00000232014:N73S;ENSP00000413122:N73S;ENSP00000415574:N73S;ENSP00000414455:N73S	ENSP00000232014:N73S	N	-	2	0	BCL6	188932356	0.998000	0.40836	0.992000	0.48379	0.971000	0.66376	3.026000	0.49689	2.288000	0.76882	0.482000	0.46254	AAT		PASS	0.443	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		14	98	14	98	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515483	195515483	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr3:195515483T>C	ENST00000463781.3	-	2	3427	c.2968A>G	c.(2968-2970)Acc>Gcc	p.T990A	MUC4_ENST00000475231.1_Missense_Mutation_p.T990A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	995	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T990A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGTGTGACCTGTG	0.577																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2968-2970)ACC>GCC		mucin 4 isoform a							65.0	57.0	60.0					3																	195515483		2197	4276	6473	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515483T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2968A>G	3.37:g.195515483T>C	ENSP00000417498:p.Thr990Ala					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.T990A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3428	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2968A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	8.699	0.909304	0.17833	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.27104	1.7;1.69	1.43	1.43	0.22495	.	.	.	.	.	T	0.11324	0.0276	N	0.19112	0.55	0.09310	N	1	P	0.46912	0.886	B	0.34138	0.176	T	0.13710	-1.0499	8	.	.	.	.	5.1164	0.14836	0.0:0.0:0.0:1.0	.	990	E7ESK3	.	A	990	ENSP00000417498:T990A;ENSP00000420243:T990A	.	T	-	1	0	MUC4	196999878	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.705000	0.05052	0.932000	0.37266	0.305000	0.20034	ACC		PASS	0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	117	7	117	---	---	---	---
GAK	2580	broad.mit.edu	37	4	898519	898519	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:898519G>A	ENST00000314167.4	-	5	541	c.431C>T	c.(430-432)tCg>tTg	p.S144L	GAK_ENST00000511163.1_Missense_Mutation_p.S65L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> L. {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S144L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGTGTCGCACGAAAGGGGGCC	0.552																																						uc003gbm.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(430-432)TCG>TTG		cyclin G associated kinase							55.0	55.0	55.0					4																	898519		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:898519G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.431C>T	4.37:g.898519G>A	ENSP00000314499:p.Ser144Leu					GAK_uc003gbn.3_Missense_Mutation_p.S65L|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S8L	p.S144L	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	5	630	-			144		S -> L.	Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.431C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424726	0.43020	.	.	ENSG00000178950	ENST00000314167;ENST00000511163;ENST00000511229	T;T;T	0.24723	1.84;1.84;1.84	4.31	4.31	0.51392	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132901	0.52532	D	0.000063	T	0.37183	0.0994	M	0.76328	2.33	0.54753	D	0.999989	P;P;P	0.52061	0.582;0.678;0.95	B;B;P	0.47346	0.36;0.221;0.544	T	0.43556	-0.9384	10	0.66056	D	0.02	-6.585	14.3379	0.66603	0.0:0.0:1.0:0.0	.	65;144;40	E9PGR2;O14976;Q59HA5	.;GAK_HUMAN;.	L	144;65;56	ENSP00000314499:S144L;ENSP00000421361:S65L;ENSP00000422391:S56L	ENSP00000314499:S144L	S	-	2	0	GAK	888519	1.000000	0.71417	0.020000	0.16555	0.017000	0.09413	9.118000	0.94355	1.938000	0.56188	0.456000	0.33151	TCG		PASS	0.552	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		80	30	80	30	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69179845	69179845	+	Missense_Mutation	SNP	C	C	T	rs368902802		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:69179845C>T	ENST00000344157.4	-	17	2491	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R701Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R727Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	719	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R719Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCTCTCCCctcggtctctgtc	0.418																																						uc003hdx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2155-2157)CGA>CAA		splicing factor YT521-B isoform 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	68.0	67.0	67.0		2156,2102	5.6	1.0	4		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	YTHDC1	NM_001031732.2,NM_133370.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	719/728,701/710	69179845	1,13005	2203	4300	6503	SO:0001583	missense	91746							g.chr4:69179845C>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2156G>A	4.37:g.69179845C>T	ENSP00000339245:p.Arg719Gln					YTHDC1_uc003hdy.2_Missense_Mutation_p.R701Q	p.R719Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			17	2509	-			719			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.2156G>A	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534220	0.27475	0.0	1.16E-4	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24538	1.85;1.87	5.56	5.56	0.83823	.	0.140327	0.45606	D	0.000354	T	0.34803	0.0910	N	0.12182	0.205	0.45962	D	0.998789	D;D	0.69078	0.997;0.994	D;P	0.66847	0.947;0.885	T	0.39333	-0.9619	10	0.87932	D	0	.	19.1452	0.93463	0.0:1.0:0.0:0.0	.	701;719	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	719;701	ENSP00000339245:R719Q;ENSP00000347888:R701Q	ENSP00000339245:R719Q	R	-	2	0	YTHDC1	68862440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.619000	0.88677	0.467000	0.42956	CGA		PASS	0.418	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		3	20	3	20	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85717868	85717868	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:85717868A>C	ENST00000295888.4	-	19	3380	c.2973T>G	c.(2971-2973)gaT>gaG	p.D991E	WDFY3_ENST00000322366.6_Missense_Mutation_p.D991E	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	991					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.D991E(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAAAACATTATCAGTACCCA	0.408																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2971-2973)GAT>GAG		WD repeat and FYVE domain containing 3 isoform							113.0	110.0	111.0					4																	85717868		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85717868A>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2973T>G	4.37:g.85717868A>C	ENSP00000295888:p.Asp991Glu						p.D991E	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	19	3381	-		Hepatocellular(203;0.114)	991					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2973T>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503909	0.44558	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63255	-0.03;-0.03	5.63	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	N	0.08118	0	0.54753	D	0.999988	D	0.58970	0.984	D	0.68192	0.956	T	0.49762	-0.8905	10	0.06365	T	0.9	.	8.062	0.30638	0.6014:0.0:0.3986:0.0	.	991	Q8IZQ1	WDFY3_HUMAN	E	991	ENSP00000318466:D991E;ENSP00000295888:D991E	ENSP00000295888:D991E	D	-	3	2	WDFY3	85936892	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.094000	0.57721	0.517000	0.28361	-0.385000	0.06624	GAT		PASS	0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		66	199	66	199	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88731837	88731837	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:88731837C>A	ENST00000226284.5	+	6	393	c.326C>A	c.(325-327)gCt>gAt	p.A109D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	109	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.A109D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACACTTTCTGCTACAACACTG	0.433																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GCT>GAT		integrin-binding sialoprotein precursor							124.0	126.0	125.0					4																	88731837		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88731837C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.326C>A	4.37:g.88731837C>A	ENSP00000226284:p.Ala109Asp						p.A109D	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	6	424	+		Hepatocellular(203;0.114)	109			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.326C>A	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198382	0.22037	.	.	ENSG00000029559	ENST00000226284	T	0.10382	2.88	5.23	1.29	0.21616	.	1.577300	0.03329	N	0.193070	T	0.13500	0.0327	L	0.42245	1.32	0.09310	N	1	B	0.33413	0.411	B	0.42798	0.398	T	0.35992	-0.9766	10	0.13853	T	0.58	.	4.5186	0.11949	0.0:0.5295:0.1684:0.3021	.	109	P21815	SIAL_HUMAN	D	109	ENSP00000226284:A109D	ENSP00000226284:A109D	A	+	2	0	IBSP	88950861	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.420000	0.21263	-0.013000	0.14199	0.591000	0.81541	GCT		PASS	0.433	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			4	70	4	70	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412321	105412321	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:105412321G>A	ENST00000426831.1	-	1	146	c.132C>T	c.(130-132)tgC>tgT	p.C44C	CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Silent_p.C213C			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	44					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.C44C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCTTGTTCATGCATTCCCCCG	0.547																																						uc003hxg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(130-132)TGC>TGT		CXXC finger 4							132.0	144.0	140.0					4																	105412321		2203	4300	6503	SO:0001819	synonymous_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412321G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.132C>T	4.37:g.105412321G>A						uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron	p.C44C	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	1	147	-			44						Silent	SNP	ENST00000426831.1	37	c.132C>T																																																																																					PASS	0.547	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		36	855	36	855	---	---	---	---
PITX2	5308	broad.mit.edu	37	4	111542336	111542336	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:111542336G>A	ENST00000354925.2	-	6	2079	c.374C>T	c.(373-375)aCg>aTg	p.T125M	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Missense_Mutation_p.T125M|PITX2_ENST00000355080.5_Missense_Mutation_p.T79M|PITX2_ENST00000557119.2_Missense_Mutation_p.T132M|PITX2_ENST00000306732.3_Missense_Mutation_p.T132M|PITX2_ENST00000394595.3_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	125					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T125M(1)|p.T132M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCGGGCTTCCGTAAGGTTGGT	0.592																																						uc003iad.2																			2	Substitution - Missense(2)		lung(2)		0						c.(373-375)ACG>ATG		paired-like homeodomain transcription factor 2							28.0	28.0	28.0					4																	111542336		2202	4299	6501	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111542336G>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.374C>T	4.37:g.111542336G>A	ENSP00000347004:p.Thr125Met					PITX2_uc003iac.2_Missense_Mutation_p.T132M|PITX2_uc003iae.2_Missense_Mutation_p.T79M|PITX2_uc010iml.2_Intron|PITX2_uc003iaf.2_Missense_Mutation_p.T125M|PITX2_uc003iag.1_Missense_Mutation_p.T132M	p.T125M	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	4	956	-		Hepatocellular(203;0.217)	125			Homeobox.		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.374C>T	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195494	0.94960	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;1.0;0.996	D	0.99170	1.0864	10	0.87932	D	0	.	19.4788	0.95000	0.0:0.0:1.0:0.0	.	125;79;125;132	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	M	132;125;79;125;125;79	ENSP00000304169:T132M;ENSP00000378097:T125M;ENSP00000347192:T79M;ENSP00000347004:T125M;ENSP00000421454:T125M;ENSP00000424142:T79M	ENSP00000304169:T132M	T	-	2	0	PITX2	111761785	1.000000	0.71417	0.932000	0.37286	0.972000	0.66771	9.721000	0.98766	2.676000	0.91093	0.655000	0.94253	ACG		PASS	0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			23	85	23	85	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114294293	114294293	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:114294293A>C	ENST00000357077.4	+	44	11711	c.11658A>C	c.(11656-11658)gaA>gaC	p.E3886D	ANK2_ENST00000509550.1_Missense_Mutation_p.E977D|ANK2_ENST00000394537.3_Missense_Mutation_p.E1801D|ANK2_ENST00000506722.1_Missense_Mutation_p.E1792D|ANK2_ENST00000510275.2_Missense_Mutation_p.E484D|ANK2_ENST00000264366.6_Missense_Mutation_p.E3853D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3886					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E3886D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAGAAGAATACATTGATG	0.403																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11656-11658)GAA>GAC		ankyrin 2 isoform 1							147.0	144.0	145.0					4																	114294293		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114294293A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11658A>C	4.37:g.114294293A>C	ENSP00000349588:p.Glu3886Asp					ANK2_uc003ibd.3_Missense_Mutation_p.E1792D|ANK2_uc003ibf.3_Missense_Mutation_p.E1801D|ANK2_uc011cgc.1_Missense_Mutation_p.E977D|ANK2_uc003ibg.3_Missense_Mutation_p.E816D|ANK2_uc003ibh.3_Missense_Mutation_p.E506D|ANK2_uc011cgd.1_Missense_Mutation_p.E1188D|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	p.E3886D	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	44	11758	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3853					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11658A>C	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.944062|2.944062	0.53079|0.53079	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960	T;T;T;T;T;D;D|.	0.96232|.	-0.27;-0.25;-0.29;-0.3;-1.03;-2.03;-3.95|.	5.87|5.87	2.21|2.21	0.28008|0.28008	.|.	0.367618|.	0.22633|.	N|.	0.057556|.	T|T	0.57489|0.57489	0.2057|0.2057	M|M	0.65975|0.65975	2.015|2.015	0.34359|0.34359	D|D	0.690722|0.690722	B;P;B;P;P;P|.	0.47191|.	0.189;0.763;0.293;0.891;0.887;0.532|.	B;B;B;P;P;B|.	0.47015|.	0.039;0.163;0.039;0.534;0.469;0.356|.	T|T	0.64508|0.64508	-0.6391|-0.6391	10|5	0.49607|.	T|.	0.09|.	.|.	9.2428|9.2428	0.37506|0.37506	0.6578:0.0:0.3422:0.0|0.6578:0.0:0.3422:0.0	.|.	977;867;833;1801;3886;1792|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	D|L	1792;867;1801;3886;3853;1792;977;484;896|834	ENSP00000421067:E1792D;ENSP00000378044:E1801D;ENSP00000349588:E3886D;ENSP00000264366:E3853D;ENSP00000426944:E977D;ENSP00000421023:E484D;ENSP00000422498:E896D|.	ENSP00000264366:E3853D|.	E|I	+|+	3|1	2|0	ANK2|ANK2	114513742|114513742	0.877000|0.877000	0.30153|0.30153	0.992000|0.992000	0.48379|0.48379	0.803000|0.803000	0.45373|0.45373	0.084000|0.084000	0.14891|0.14891	0.486000|0.486000	0.27676|0.27676	0.533000|0.533000	0.62120|0.62120	GAA|ATA		PASS	0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		16	51	16	51	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125599886	125599886	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:125599886T>C	ENST00000504087.1	-	3	1724	c.687A>G	c.(685-687)ctA>ctG	p.L229L	ANKRD50_ENST00000515641.1_Silent_p.L50L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	229								p.L229L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGAGAAGCAATAGCCATGGTG	0.408																																						uc003ifg.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(685-687)CTA>CTG		ankyrin repeat domain 50							169.0	165.0	166.0					4																	125599886		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125599886T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.687A>G	4.37:g.125599886T>C						ANKRD50_uc011cgo.1_Silent_p.L50L|ANKRD50_uc010inw.2_Silent_p.L229L	p.L229L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			2	953	-			229					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.687A>G	CCDS34060.1																																																																																				PASS	0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		25	65	25	65	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146067571	146067571	+	Missense_Mutation	SNP	G	G	C	rs574645758		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:146067571G>C	ENST00000447906.2	-	14	1457	c.1270C>G	c.(1270-1272)Cgt>Ggt	p.R424G	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.R359G			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	424					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R358G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTCTTTCACGATCAGGTTTT	0.318																																						uc003ika.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1075-1077)CGT>GGT		OTU domain containing 4 protein isoform 3							97.0	98.0	98.0					4																	146067571		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067571G>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1270C>G	4.37:g.146067571G>C	ENSP00000395487:p.Arg424Gly					OTUD4_uc003ijz.3_Missense_Mutation_p.R358G	p.R359G	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			14	1213	-	all_hematologic(180;0.151)		423					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1075C>G		.	.	.	.	.	.	.	.	.	.	G	19.88	3.908985	0.72868	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.40225	1.29;1.28;1.04	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	T	0.61578	0.2358	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60464	-0.7258	10	0.46703	T	0.11	-14.4405	13.7405	0.62845	0.0739:0.0:0.9261:0.0	.	424;423	G3V0I6;Q01804	.;OTUD4_HUMAN	G	359;424;358	ENSP00000409279:R359G;ENSP00000395487:R424G;ENSP00000425972:R358G	ENSP00000395487:R424G	R	-	1	0	OTUD4	146287021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.682000	0.54656	2.671000	0.90904	0.655000	0.94253	CGT		PASS	0.318	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		14	10	14	10	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393664	164393664	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:164393664G>T	ENST00000280605.3	-	1	1383	c.1223C>A	c.(1222-1224)gCc>gAc	p.A408D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	408						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A408D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGAGAAATGGCTCCCATTCG	0.502																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1222-1224)GCC>GAC		transketolase-like 2							40.0	43.0	42.0					4																	164393664		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393664G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1223C>A	4.37:g.164393664G>T	ENSP00000280605:p.Ala408Asp						p.A408D	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1384	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	408					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1223C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420318	0.83559	.	.	ENSG00000151005	ENST00000280605	T	0.56275	0.47	4.44	4.44	0.53790	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	M	0.92555	3.32	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.83377	0.0010	10	0.87932	D	0	-18.0344	15.3704	0.74557	0.0:0.0:1.0:0.0	.	408	Q9H0I9	TKTL2_HUMAN	D	408	ENSP00000280605:A408D	ENSP00000280605:A408D	A	-	2	0	TKTL2	164613114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.353000	0.97080	2.759000	0.94783	0.655000	0.94253	GCC		PASS	0.502	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		28	20	28	20	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183245202	183245202	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr4:183245202G>T	ENST00000511685.1	+	2	152	c.29G>T	c.(28-30)tGc>tTc	p.C10F	TENM3_ENST00000406950.2_Missense_Mutation_p.C10F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	10	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C10F(1)									AGGCCTTACTGCTCCCTGACC	0.527																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)TGC>TTC		odz, odd Oz/ten-m homolog 3							81.0	82.0	82.0					4																	183245202		2009	4184	6193	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183245202G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.29G>T	4.37:g.183245202G>T	ENSP00000424226:p.Cys10Phe					ODZ3_uc010irv.1_Missense_Mutation_p.C10F	p.C10F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	1	66	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	10			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.29G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244006	0.58995	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;D;D	0.86694	1.49;-2.16;-2.16	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (1);	.	.	.	.	D	0.89458	0.6721	L	0.36672	1.1	0.50813	D	0.999895	D;D	0.57571	0.98;0.971	P;P	0.57468	0.821;0.597	D	0.89781	0.3961	9	0.72032	D	0.01	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	10;10	D6RGC5;Q9P273	.;TEN3_HUMAN	F	10	ENSP00000421320:C10F;ENSP00000424226:C10F;ENSP00000385276:C10F	ENSP00000385276:C10F	C	+	2	0	ODZ3	183482196	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	TGC		PASS	0.527	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	10	6	10	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10973793	10973793	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:10973793G>T	ENST00000304623.8	-	22	3639	c.3450C>A	c.(3448-3450)agC>agA	p.S1150R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.S717R|CTNND2_ENST00000503622.1_Missense_Mutation_p.S813R|CTNND2_ENST00000359640.2_Missense_Mutation_p.S1092R|CTNND2_ENST00000511377.1_Missense_Mutation_p.S1059R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1150					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1150R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATCTTTTCTGCTGGGCTCCT	0.547																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(3448-3450)AGC>AGA		catenin (cadherin-associated protein), delta 2							95.0	84.0	88.0					5																	10973793		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973793G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3450C>A	5.37:g.10973793G>T	ENSP00000307134:p.Ser1150Arg					CTNND2_uc010itt.2_Missense_Mutation_p.S1059R|CTNND2_uc011cmy.1_Missense_Mutation_p.S813R|CTNND2_uc011cmz.1_Missense_Mutation_p.S717R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S742R	p.S1150R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			22	3595	-			1150					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3450C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565941	0.27915	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77877	-1.0;-1.07;-1.0;-1.13;-1.11	5.93	4.96	0.65561	.	0.389401	0.32287	N	0.006316	T	0.56156	0.1966	N	0.14661	0.345	0.43835	D	0.996418	P;P;B	0.43826	0.596;0.818;0.435	B;B;B	0.34536	0.133;0.185;0.157	T	0.62812	-0.6775	10	0.72032	D	0.01	-17.692	7.8507	0.29453	0.2334:0.0:0.7666:0.0	.	813;742;1150	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	R	1150;1092;1059;245;717;813	ENSP00000307134:S1150R;ENSP00000352661:S1092R;ENSP00000426510:S1059R;ENSP00000391155:S717R;ENSP00000426887:S813R	ENSP00000307134:S1150R	S	-	3	2	CTNND2	11026793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.781000	0.55394	2.805000	0.96524	0.655000	0.94253	AGC		PASS	0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		5	208	5	208	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13719115	13719115	+	Silent	SNP	C	C	T	rs140284455		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:13719115C>T	ENST00000265104.4	-	72	12479	c.12375G>A	c.(12373-12375)gcG>gcA	p.A4125A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4125	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A4125A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGCGGAACGCATCATGTA	0.493									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12373-12375)GCG>GCA		dynein, axonemal, heavy chain 5		C		2,4404	4.2+/-10.8	0,2,2201	141.0	137.0	138.0		12375	-11.2	0.0	5	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	DNAH5	NM_001369.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		4125/4625	13719115	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719115C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12375G>A	5.37:g.13719115C>T						DNAH5_uc003jfc.2_Silent_p.A293A	p.A4125A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12417	-	Lung NSC(4;0.00476)		4125			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12375G>A	CCDS3882.1																																																																																				PASS	0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	108	7	108	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527770	23527770	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:23527770A>T	ENST00000296682.3	+	11	2755	c.2573A>T	c.(2572-2574)aAg>aTg	p.K858M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	858					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.K858M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACAGGGGAGAAGCCCTACGTC	0.592										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2572-2574)AAG>ATG		PR domain containing 9							71.0	80.0	77.0					5																	23527770		2192	4299	6491	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527770A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2573A>T	5.37:g.23527770A>T	ENSP00000296682:p.Lys858Met	HNSCC(3;0.000094)					p.K858M	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2755	+			858					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2573A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407138	0.42715	.	.	ENSG00000164256	ENST00000296682	T	0.27557	1.66	2.67	2.67	0.31697	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60919	0.2306	M	0.92649	3.33	0.30902	N	0.72921	D	0.71674	0.998	D	0.85130	0.997	T	0.64419	-0.6412	9	0.87932	D	0	-12.1655	9.2187	0.37364	1.0:0.0:0.0:0.0	.	858	Q9NQV7	PRDM9_HUMAN	M	858	ENSP00000296682:K858M	ENSP00000296682:K858M	K	+	2	0	PRDM9	23563527	0.809000	0.29036	1.000000	0.80357	0.469000	0.32828	0.500000	0.22562	1.494000	0.48533	0.386000	0.25728	AAG		PASS	0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		44	540	44	540	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32088003	32088003	+	Silent	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:32088003G>C	ENST00000438447.1	+	20	4837	c.4449G>C	c.(4447-4449)ccG>ccC	p.P1483P	PDZD2_ENST00000282493.3_Silent_p.P1483P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1483					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P1483P(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCCTCCCCGAGGAGGGCCT	0.642																																						uc003jhl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4447-4449)CCG>CCC		PDZ domain containing 2																																				SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088003G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4449G>C	5.37:g.32088003G>C						PDZD2_uc003jhm.2_Silent_p.P1483P	p.P1483P	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	4837	+			1483					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.4449G>C	CCDS34137.1																																																																																				PASS	0.642	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			21	166	21	166	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004481	41004481	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:41004481T>G	ENST00000399564.4	-	37	4611	c.4161A>C	c.(4159-4161)gaA>gaC	p.E1387D	MROH2B_ENST00000506092.2_Missense_Mutation_p.E942D	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1387								p.E1387D(1)									GCAGCACTATTTCCTTGAAGT	0.463																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4159-4161)GAA>GAC		HEAT repeat family member 7B2							152.0	144.0	147.0					5																	41004481		1916	4125	6041	SO:0001583	missense	133558						binding	g.chr5:41004481T>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4161A>C	5.37:g.41004481T>G	ENSP00000382476:p.Glu1387Asp					HEATR7B2_uc003jmi.3_Missense_Mutation_p.E942D	p.E1387D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			37	4651	-			1387			HEAT 15.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4161A>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055148	0.55325	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64260	-0.09;-0.09	5.77	0.68	0.17980	Armadillo-like helical (1);Armadillo-type fold (1);	0.091277	0.47455	D	0.000221	T	0.63954	0.2555	L	0.54323	1.7	0.27809	N	0.942212	P	0.43392	0.805	P	0.56398	0.797	T	0.55805	-0.8083	10	0.20519	T	0.43	.	7.6006	0.28073	0.0:0.3429:0.0:0.6571	.	1387	Q7Z745	HTRB2_HUMAN	D	942;1092;1387	ENSP00000441504:E942D;ENSP00000382476:E1387D	ENSP00000296803:E1092D	E	-	3	2	HEATR7B2	41040238	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.134000	0.15932	0.104000	0.17725	0.533000	0.62120	GAA		PASS	0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		27	269	27	269	---	---	---	---
GZMA	3001	broad.mit.edu	37	5	54403983	54403983	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:54403983G>T	ENST00000274306.6	+	4	423	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.V130L(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TAACAAATATGTGACTATCCT	0.368																																						uc003jpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(388-390)GTG>TTG		granzyme A precursor							45.0	46.0	46.0					5																	54403983		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403983G>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.388G>T	5.37:g.54403983G>T	ENSP00000274306:p.Val130Leu						p.V130L	NM_006144	NP_006135	P12544	GRAA_HUMAN			4	425	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	130			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.388G>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948548	0.73787	.	.	ENSG00000145649	ENST00000274306	D	0.91792	-2.91	5.93	4.04	0.47022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.059677	0.64402	D	0.000003	D	0.94614	0.8264	M	0.68317	2.08	0.23712	N	0.997046	D	0.89917	1.0	D	0.76071	0.987	D	0.88303	0.2951	10	0.87932	D	0	.	10.9106	0.47106	0.0707:0.1309:0.7984:0.0	.	130	P12544	GRAA_HUMAN	L	130	ENSP00000274306:V130L	ENSP00000274306:V130L	V	+	1	0	GZMA	54439740	0.994000	0.37717	0.114000	0.21550	0.109000	0.19521	3.186000	0.50942	1.496000	0.48567	0.655000	0.94253	GTG		PASS	0.368	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		8	2	8	2	---	---	---	---
PLK2	10769	broad.mit.edu	37	5	57752858	57752858	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:57752858G>C	ENST00000274289.3	-	8	1370	c.1070C>G	c.(1069-1071)tCa>tGa	p.S357*	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	357					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S357*(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AGCTGGGCTTGATAAGTGGAA	0.403																																						uc003jrn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1069-1071)TCA>TGA		polo-like kinase 2							63.0	67.0	66.0					5																	57752858		2203	4300	6503	SO:0001587	stop_gained	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57752858G>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1070C>G	5.37:g.57752858G>C	ENSP00000274289:p.Ser357*						p.S357*	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	8	1197	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	357					O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	c.1070C>G	CCDS3974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.883404|7.883404	0.98542|0.98542	.|.	.|.	ENSG00000145632|ENSG00000145632	ENST00000442330|ENST00000274289;ENST00000537944	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.064020	.|0.64402	.|D	.|0.000004	T|.	0.68650|.	0.3024|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62459|.	-0.6850|.	4|.	0.09590|0.21014	T|T	0.72|0.42	-11.8528|-11.8528	18.9464|18.9464	0.92623|0.92623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	343|357	.|.	ENSP00000401861:Q343E|ENSP00000274289:S357X	Q|S	-|-	1|2	0|0	PLK2|PLK2	57788615|57788615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.476000|9.476000	0.97823|0.97823	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	CAA|TCA		PASS	0.403	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		23	10	23	10	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79855219	79855219	+	Missense_Mutation	SNP	G	G	A	rs571967371	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:79855219G>A	ENST00000338682.3	-	5	1292	c.620C>T	c.(619-621)aCg>aTg	p.T207M		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	207						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T207M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GCCAAAAAGCGTCAGTTCCGT	0.498													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20377	0.0		0.0	False		,,,				2504	0.001					uc010jam.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(619-621)ACG>ATG		ankyrin repeat domain 34B							126.0	119.0	122.0					5																	79855219		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855219G>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.620C>T	5.37:g.79855219G>A	ENSP00000339802:p.Thr207Met					ANKRD34B_uc003kgw.2_Missense_Mutation_p.T207M|ANKRD34B_uc010jan.2_Missense_Mutation_p.T207M	p.T207M	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	970	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	207					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.620C>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	0.800	-0.755798	0.03019	.	.	ENSG00000189127	ENST00000338682	T	0.21031	2.03	5.73	0.386	0.16254	.	0.415031	0.20389	U	0.093299	T	0.12475	0.0303	L	0.54323	1.7	0.09310	N	1	P	0.35226	0.491	B	0.17098	0.017	T	0.17107	-1.0380	10	0.46703	T	0.11	-3.0336	2.3448	0.04269	0.2315:0.2434:0.4116:0.1136	.	207	A5PLL1	AN34B_HUMAN	M	207	ENSP00000339802:T207M	ENSP00000339802:T207M	T	-	2	0	ANKRD34B	79890975	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.386000	0.20702	0.068000	0.16574	-0.143000	0.13931	ACG		PASS	0.498	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		33	8	33	8	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924660	150924660	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:150924660C>T	ENST00000261800.5	-	9	6040	c.6028G>A	c.(6028-6030)Gat>Aat	p.D2010N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2010	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2010N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAAACATATCTGTGCCATTC	0.498																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6028-6030)GAT>AAT		FAT tumor suppressor 2 precursor							101.0	101.0	101.0					5																	150924660		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924660C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6028G>A	5.37:g.150924660C>T	ENSP00000261800:p.Asp2010Asn					GM2A_uc011dcs.1_Intron	p.D2010N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6041	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2010			Extracellular (Potential).|Cadherin 17.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6028G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582768	0.28268	.	.	ENSG00000086570	ENST00000261800	T	0.60424	0.19	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.256937	0.29159	N	0.012980	T	0.53449	0.1797	N	0.16708	0.43	0.40553	D	0.981133	P	0.49185	0.92	P	0.53224	0.721	T	0.47736	-0.9094	10	0.12430	T	0.62	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	2010	Q9NYQ8	FAT2_HUMAN	N	2010	ENSP00000261800:D2010N	ENSP00000261800:D2010N	D	-	1	0	FAT2	150904853	1.000000	0.71417	0.920000	0.36463	0.931000	0.56810	4.856000	0.62932	2.425000	0.82216	0.561000	0.74099	GAT		PASS	0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		24	47	24	47	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150948429	150948429	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:150948429G>A	ENST00000261800.5	-	1	76	c.64C>T	c.(64-66)Cta>Tta	p.L22L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	22					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L22L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCCTTCTAGAGGCTTCTCA	0.473																																						uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(64-66)CTA>TTA		FAT tumor suppressor 2 precursor							89.0	91.0	90.0					5																	150948429		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948429G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.64C>T	5.37:g.150948429G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.L22L	p.L22L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	77	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	22			Extracellular (Potential).		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.64C>T	CCDS4317.1																																																																																				PASS	0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		79	33	79	33	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158588402	158588402	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:158588402G>C	ENST00000424310.2	-	10	1857	c.1498C>G	c.(1498-1500)Ctt>Gtt	p.L500V	RNF145_ENST00000520638.1_Missense_Mutation_p.L514V|RNF145_ENST00000274542.2_Missense_Mutation_p.L528V|RNF145_ENST00000518802.1_Missense_Mutation_p.L530V|RNF145_ENST00000519865.1_Missense_Mutation_p.L500V|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.L517V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	500						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L528V(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGCCCGAAGCCACACGTTA	0.488																																						uc003lxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1498-1500)CTT>GTT		ring finger protein 145							55.0	53.0	54.0					5																	158588402		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158588402G>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1498C>G	5.37:g.158588402G>C	ENSP00000409064:p.Leu500Val					RNF145_uc011ddy.1_Missense_Mutation_p.L514V|RNF145_uc003lxo.1_Missense_Mutation_p.L528V|RNF145_uc011ddz.1_Missense_Mutation_p.L517V|RNF145_uc010jiq.1_Missense_Mutation_p.L530V	p.L500V	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1811	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	500			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1498C>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209389	0.79240	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78364	-1.17;-1.15;-1.15;-1.16;-1.16;-1.16;-1.16	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	L	0.44542	1.39	0.58432	D	0.999997	D;D;D;P;D	0.69078	0.997;0.986;0.997;0.933;0.996	D;P;D;P;P	0.64410	0.925;0.805;0.925;0.617;0.877	T	0.78244	-0.2279	10	0.33940	T	0.23	-20.4343	13.0442	0.58916	0.1258:0.0:0.8742:0.0	.	517;514;530;500;528	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	V	528;500;500;516;517;530;500;514	ENSP00000274542:L528V;ENSP00000430397:L500V;ENSP00000409064:L500V;ENSP00000430753:L516V;ENSP00000445115:L517V;ENSP00000430955:L530V;ENSP00000429071:L514V	ENSP00000274542:L528V	L	-	1	0	RNF145	158520980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.650000	0.67944	2.890000	0.99128	0.650000	0.86243	CTT		PASS	0.488	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		25	42	25	42	---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10876187	10876187	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:10876187G>A	ENST00000379491.4	-	4	666	c.519C>T	c.(517-519)agC>agT	p.S173S	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	173					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S173S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTTGATGGCGCTTCTTCTAG	0.468																																						uc003mzn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(517-519)AGC>AGT		glial cells missing homolog 2							216.0	177.0	190.0					6																	10876187		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10876187G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.519C>T	6.37:g.10876187G>A						SYCP2L_uc011dim.1_Intron	p.S173S	NM_004752	NP_004743	O75603	GCM2_HUMAN			4	591	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	173			GCM.		D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.519C>T	CCDS4517.1																																																																																				PASS	0.468	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			44	150	44	150	---	---	---	---
HIST1H1T	3010	broad.mit.edu	37	6	26108213	26108213	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:26108213G>A	ENST00000338379.4	-	1	151	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	37					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R37C(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GGCACTTTGCGACTTGCACTT	0.537																																						uc003ngj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(109-111)CGC>TGC		histone cluster 1, H1t							93.0	78.0	83.0					6																	26108213		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108213G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.109C>T	6.37:g.26108213G>A	ENSP00000341214:p.Arg37Cys						p.R37C	NM_005323	NP_005314	P22492	H1T_HUMAN			1	152	-			37					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.109C>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.600366	0.28534	.	.	ENSG00000187475	ENST00000338379	T	0.10382	2.88	5.02	4.16	0.48862	.	1.582820	0.04053	N	0.305118	T	0.02767	0.0083	N	0.08118	0	0.09310	N	0.999999	B	0.22746	0.074	B	0.19666	0.026	T	0.40001	-0.9586	10	0.87932	D	0	-4.5259	12.4251	0.55542	0.0:0.0:0.6949:0.3051	.	37	P22492	H1T_HUMAN	C	37	ENSP00000341214:R37C	ENSP00000341214:R37C	R	-	1	0	HIST1H1T	26216192	0.043000	0.20138	0.013000	0.15412	0.006000	0.05464	1.649000	0.37281	1.501000	0.48654	-0.127000	0.14921	CGC		PASS	0.537	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		7	74	7	74	---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26234508	26234508	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:26234508C>T	ENST00000244534.5	-	1	708	c.654G>A	c.(652-654)ccG>ccA	p.P218P		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	218					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P218P(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACTTTTTCTTCGGAGCTGCCT	0.512																																						uc003nhd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(652-654)CCG>CCA		histone cluster 1, H1d							61.0	67.0	65.0					6																	26234508		2202	4300	6502	SO:0001819	synonymous_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234508C>T	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.654G>A	6.37:g.26234508C>T							p.P218P	NM_005320	NP_005311	P16402	H13_HUMAN			1	709	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	218					B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	c.654G>A	CCDS4597.1																																																																																				PASS	0.512	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		9	241	9	241	---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						uc003oav.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(784-786)TAT>TTT		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe					PBX2_uc003oaw.2_Missense_Mutation_p.Y262F	p.Y262F	NM_002586	NP_002577	P40425	PBX2_HUMAN			5	1056	-			262			Homeobox; TALE-type.		A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		PASS	0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			5	71	5	71	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76602391	76602391	+	Missense_Mutation	SNP	G	G	T	rs61739689	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:76602391G>T	ENST00000369977.3	+	28	3230	c.3091G>T	c.(3091-3093)Gac>Tac	p.D1031Y	MYO6_ENST00000369981.3_Missense_Mutation_p.D1031Y|MYO6_ENST00000369975.1_Missense_Mutation_p.D1031Y|MYO6_ENST00000369985.4_Missense_Mutation_p.D1031Y	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1031					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.D1031Y(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGCCCAGGCCGACCTGGCGCT	0.612																																						uc003pih.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(3091-3093)GAC>TAC		myosin VI							41.0	43.0	42.0					6																	76602391		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76602391G>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3091G>T	6.37:g.76602391G>T	ENSP00000358994:p.Asp1031Tyr					MYO6_uc003pig.1_Missense_Mutation_p.D1031Y|MYO6_uc003pii.1_Missense_Mutation_p.D1031Y|MYO6_uc003pij.1_5'Flank	p.D1031Y	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	28	3370	+		all_hematologic(105;0.189)	1031					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3091G>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787872	0.90367	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.68903	2.17;2.46;2.48;-0.36;2.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.87578	0.951;0.998	T	0.78730	-0.2090	10	0.66056	D	0.02	.	19.7153	0.96115	0.0:0.0:1.0:0.0	rs61739689	1031;1031	Q9UM54-2;Q9UM54-1	.;.	Y	1031;1031;1031;1031;1031;94	ENSP00000358998:D1031Y;ENSP00000359002:D1031Y;ENSP00000358994:D1031Y;ENSP00000358992:D1031Y;ENSP00000399406:D94Y	ENSP00000358992:D1031Y	D	+	1	0	MYO6	76659111	1.000000	0.71417	0.802000	0.32245	0.686000	0.39977	9.415000	0.97375	2.673000	0.90976	0.491000	0.48974	GAC		PASS	0.612	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		10	105	10	105	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888578	89888578	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:89888578C>A	ENST00000454853.2	-	10	1461	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	GABRR1_ENST00000435811.1_Missense_Mutation_p.D434Y|GABRR1_ENST00000369451.3_Missense_Mutation_p.D364Y	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	451					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D445Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCGTGGGTGTCGATTCTCATG	0.453																																						uc003pna.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1351-1353)GAC>TAC		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						185.0	176.0	179.0					6																	89888578		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888578C>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1351G>T	6.37:g.89888578C>A	ENSP00000412673:p.Asp451Tyr					GABRR1_uc011dzv.1_Missense_Mutation_p.D428Y	p.D451Y	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	10	1806	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	451			Cytoplasmic (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1351G>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178417	0.78564	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.86030	-2.06;-2.06;-2.06	5.65	4.73	0.59995	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.043036	0.85682	D	0.000000	D	0.85279	0.5660	L	0.52206	1.635	0.58432	D	0.999997	D;D	0.69078	0.976;0.997	D;D	0.72075	0.911;0.976	D	0.85314	0.1080	9	.	.	.	-23.5419	10.79	0.46428	0.0:0.9009:0.0:0.0991	.	434;451	P24046-2;P24046	.;GBRR1_HUMAN	Y	451;434;364;364	ENSP00000412673:D451Y;ENSP00000394687:D434Y;ENSP00000358463:D364Y	.	D	-	1	0	GABRR1	89945297	0.937000	0.31787	0.999000	0.59377	0.940000	0.58332	1.377000	0.34317	1.244000	0.43870	0.655000	0.94253	GAC		PASS	0.453	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			4	104	4	104	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110943359	110943359	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:110943359C>A	ENST00000368911.3	-	11	1221	c.1042G>T	c.(1042-1044)Ggc>Tgc	p.G348C	CDK19_ENST00000323817.3_Missense_Mutation_p.G288C|CDK19_ENST00000413605.2_Missense_Mutation_p.G224C	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	348							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G348C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATCTGGCAGCCGGCAAATACA	0.313																																						uc003puh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1042-1044)GGC>TGC		cell division cycle 2-like 6 (CDK8-like)							138.0	144.0	142.0					6																	110943359		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110943359C>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1042G>T	6.37:g.110943359C>A	ENSP00000357907:p.Gly348Cys					CDK19_uc003pui.1_Missense_Mutation_p.G288C|CDK19_uc011eax.1_Missense_Mutation_p.G224C	p.G348C	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			11	1115	-			348					Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.1042G>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563562	0.86335	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.64803	-0.02;-0.12;0.29	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.090722	0.85682	D	0.000000	T	0.74921	0.3780	M	0.75615	2.305	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62184	0.899;0.899	T	0.76984	-0.2756	10	0.87932	D	0	-18.5719	19.8942	0.96945	0.0:1.0:0.0:0.0	.	224;348	B4DUB1;Q9BWU1	.;CDK19_HUMAN	C	348;288;287;224	ENSP00000357907:G348C;ENSP00000317665:G288C;ENSP00000410604:G224C	ENSP00000317665:G288C	G	-	1	0	CDK19	111050052	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.367000	0.79558	2.778000	0.95560	0.557000	0.71058	GGC		PASS	0.313	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		188	60	188	60	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117709116	117709116	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:117709116A>G	ENST00000368508.3	-	13	2039	c.1841T>C	c.(1840-1842)gTa>gCa	p.V614A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V609A	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	614	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V614A(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGGTGGATACTTTCACCTC	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1840-1842)GTA>GCA		proto-oncogene c-ros-1 protein precursor							142.0	140.0	140.0					6																	117709116		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709116A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1841T>C	6.37:g.117709116A>G	ENSP00000357494:p.Val614Ala					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V614A	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2040	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	614			Fibronectin type-III 3.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1841T>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645188	0.47258	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84873	-1.91;1.04	5.39	5.39	0.77823	.	0.770143	0.11712	N	0.536853	T	0.74574	0.3734	L	0.53249	1.67	0.80722	D	1	B	0.31318	0.319	B	0.21360	0.034	T	0.76323	-0.3001	10	0.87932	D	0	.	13.4577	0.61208	1.0:0.0:0.0:0.0	.	614	P08922	ROS1_HUMAN	A	614;609	ENSP00000357494:V614A;ENSP00000357493:V609A	ENSP00000357493:V609A	V	-	2	0	ROS1	117815809	0.791000	0.28800	0.200000	0.23457	0.917000	0.54804	6.485000	0.73625	2.185000	0.69588	0.459000	0.35465	GTA		PASS	0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	79	3	79	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161507496	161507496	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr6:161507496A>G	ENST00000392142.4	+	8	2606	c.2458A>G	c.(2458-2460)Aaa>Gaa	p.K820E	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K820E|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K820E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K820E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	820					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.K820E(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGGATTTGCTAAAATGTTGAG	0.388																																						uc003qtn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(2458-2460)AAA>GAA		mitogen-activated protein kinase kinase kinase 4							60.0	64.0	63.0					6																	161507496		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161507496A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2458A>G	6.37:g.161507496A>G	ENSP00000375986:p.Lys820Glu					MAP3K4_uc010kkc.1_Missense_Mutation_p.K820E|MAP3K4_uc003qto.2_Missense_Mutation_p.K820E|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.K273E	p.K820E	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	8	2600	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	820					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2458A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866975	0.91511	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.78003	-1.14;-1.14;-1.13;-1.14	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.77820	2.39	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.995;0.993	D	0.86801	0.1992	10	0.52906	T	0.07	-33.8223	15.5084	0.75760	1.0:0.0:0.0:0.0	.	820;820;820	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	E	820	ENSP00000355886:K820E;ENSP00000375986:K820E;ENSP00000355887:K820E;ENSP00000297332:K820E	ENSP00000297332:K820E	K	+	1	0	MAP3K4	161427486	1.000000	0.71417	0.698000	0.30274	0.957000	0.61999	8.962000	0.93254	2.054000	0.61138	0.533000	0.62120	AAA		PASS	0.388	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			10	9	10	9	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2740243	2740243	+	Missense_Mutation	SNP	C	C	T	rs376751656		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:2740243C>T	ENST00000312371.4	+	2	526	c.158C>T	c.(157-159)aCg>aTg	p.T53M	AMZ1_ENST00000407112.1_Missense_Mutation_p.T53M	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	53							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T53M(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGCAGAGGACGCTCTTCTGC	0.667																																						uc003smr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)ACG>ATG		archaelysin family metallopeptidase 1		C	MET/THR	0,4406		0,0,2203	107.0	115.0	112.0		158	1.5	0.1	7		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	AMZ1	NM_133463.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	53/499	2740243	1,13005	2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740243C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.158C>T	7.37:g.2740243C>T	ENSP00000308149:p.Thr53Met					AMZ1_uc003sms.1_Missense_Mutation_p.T53M|AMZ1_uc011jwa.1_5'Flank	p.T53M	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	519	+		Ovarian(82;0.0779)	53					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.158C>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116511	0.56505	0.0	1.16E-4	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.17854	2.25;2.25	4.34	1.45	0.22620	.	0.242826	0.28630	N	0.014670	T	0.32071	0.0817	M	0.68317	2.08	0.27576	N	0.949746	D;D	0.89917	1.0;1.0	D;P	0.71414	0.973;0.886	T	0.08889	-1.0700	10	0.66056	D	0.02	-15.0524	6.0176	0.19611	0.0:0.6729:0.1546:0.1726	.	53;53	B3KRS0;Q400G9	.;AMZ1_HUMAN	M	53	ENSP00000308149:T53M;ENSP00000386020:T53M	ENSP00000308149:T53M	T	+	2	0	AMZ1	2706769	0.378000	0.25114	0.050000	0.19076	0.901000	0.52897	0.650000	0.24858	-0.013000	0.14199	0.561000	0.74099	ACG		PASS	0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		8	721	8	721	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21765480	21765480	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:21765480G>T	ENST00000409508.3	+	45	7349	c.7318G>T	c.(7318-7320)Gca>Tca	p.A2440S	DNAH11_ENST00000328843.6_Missense_Mutation_p.A2447S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2447					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2447S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGATGAAAGCAGTGAAATT	0.378									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7339-7341)GCA>TCA		dynein, axonemal, heavy chain 11							102.0	98.0	99.0					7																	21765480		1827	4087	5914	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21765480G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7318G>T	7.37:g.21765480G>T	ENSP00000475939:p.Ala2440Ser						p.A2447S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			46	7370	+			2447					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7339G>T		.	.	.	.	.	.	.	.	.	.	G	13.02	2.111293	0.37242	.	.	ENSG00000105877	ENST00000328843	T	0.22945	1.93	5.83	4.02	0.46733	.	0.257962	0.41938	D	0.000799	T	0.11537	0.0281	.	.	.	0.31174	N	0.702847	B	0.17038	0.02	B	0.15052	0.012	T	0.20472	-1.0274	9	0.08179	T	0.78	.	8.3018	0.32019	0.238:0.0:0.762:0.0	.	2447	Q96DT5	DYH11_HUMAN	S	2447	ENSP00000330671:A2447S	ENSP00000330671:A2447S	A	+	1	0	DNAH11	21732005	0.998000	0.40836	0.986000	0.45419	0.996000	0.88848	1.715000	0.37971	1.461000	0.47929	0.655000	0.94253	GCA		PASS	0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	16	7	16	---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43827557	43827557	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:43827557C>T	ENST00000402924.1	+	4	230	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R23W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	23					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.R23W(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CGGCTCCGTGCGGATGAGGGA	0.547																																						uc003tir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)CGG>TGG		biliverdin reductase A precursor	NADH(DB00157)						248.0	190.0	210.0					7																	43827557		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43827557C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.67C>T	7.37:g.43827557C>T	ENSP00000385757:p.Arg23Trp					BLVRA_uc010kxv.2_Missense_Mutation_p.R23W	p.R23W	NM_000712	NP_000703	P53004	BIEA_HUMAN			3	150	+			23					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.67C>T	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596578	0.66332	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.22743	1.94;1.94;1.94	5.05	2.13	0.27403	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.67953	2.075	0.47905	D	0.999547	D	0.89917	1.0	D	0.97110	1.0	T	0.04065	-1.0980	10	0.38643	T	0.18	.	6.5526	0.22442	0.4365:0.4782:0.0:0.0853	.	23	P53004	BIEA_HUMAN	W	23	ENSP00000265523:R23W;ENSP00000385757:R23W;ENSP00000412005:R23W	ENSP00000265523:R23W	R	+	1	2	BLVRA	43794082	1.000000	0.71417	0.453000	0.27007	0.836000	0.47400	0.937000	0.28951	0.214000	0.20742	0.555000	0.69702	CGG		PASS	0.547	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		100	223	100	223	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47971571	47971571	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:47971571T>A	ENST00000289672.2	-	5	531	c.481A>T	c.(481-483)Act>Tct	p.T161S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	161					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T161S(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCGGTCCCAGTAGCACACAGC	0.507																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(481-483)ACT>TCT		polycystin-1L1							80.0	90.0	86.0					7																	47971571		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47971571T>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.481A>T	7.37:g.47971571T>A	ENSP00000289672:p.Thr161Ser						p.T161S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			5	481	-			161			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.481A>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	8.039	0.763538	0.15914	.	.	ENSG00000158683	ENST00000289672	T	0.21361	2.01	3.38	-6.75	0.01738	.	40.058400	0.00166	N	0.000003	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.17930	-1.0353	10	0.30078	T	0.28	2.0E-4	5.4185	0.16388	0.0:0.2776:0.262:0.4604	.	161	Q8TDX9	PK1L1_HUMAN	S	161	ENSP00000289672:T161S	ENSP00000289672:T161S	T	-	1	0	PKD1L1	47938096	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.987000	0.00659	-1.849000	0.01171	-1.171000	0.01739	ACT		PASS	0.507	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		82	124	82	124	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54617564	54617564	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:54617564T>C	ENST00000407838.3	+	4	741	c.335T>C	c.(334-336)cTt>cCt	p.L112P	VSTM2A_ENST00000402026.2_Missense_Mutation_p.L111P|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L112P|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L112P|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Missense_Mutation_p.L112P	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	112	Ig-like V-type.					extracellular region (GO:0005576)		p.L112P(1)|p.L111P(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCCCACAAGCTTCAGATTTCC	0.413																																						uc010kzf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(334-336)CTT>CCT		V-set and transmembrane domain containing 2							46.0	44.0	44.0					7																	54617564		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617564T>C	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.335T>C	7.37:g.54617564T>C	ENSP00000384967:p.Leu112Pro					VSTM2A_uc010kze.2_Missense_Mutation_p.L112P|VSTM2A_uc003tqc.3_Missense_Mutation_p.L112P	p.L112P	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	740	+			112			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.335T>C	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094186	0.76870	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.83235	-0.0061	10	0.87932	D	0	-17.5748	13.3034	0.60338	0.0:0.0:0.0:1.0	.	112;112;112	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	P	112;112;112;111;112	ENSP00000303108:L112P;ENSP00000384967:L112P;ENSP00000384701:L112P;ENSP00000385933:L111P;ENSP00000384103:L112P	ENSP00000303108:L112P	L	+	2	0	VSTM2A	54585058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.023000	0.59567	0.533000	0.62120	CTT		PASS	0.413	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		11	27	11	27	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87765310	87765310	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:87765310A>T	ENST00000265727.7	+	14	1263	c.1184A>T	c.(1183-1185)gAg>gTg	p.E395V	ADAM22_ENST00000398201.4_Missense_Mutation_p.E395V|ADAM22_ENST00000398209.3_Missense_Mutation_p.E395V|ADAM22_ENST00000315984.7_Missense_Mutation_p.E395V|ADAM22_ENST00000398204.4_Missense_Mutation_p.E395V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	395	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E395V(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTAAATGCGAGGACACGTGG	0.383																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1183-1185)GAG>GTG		ADAM metallopeptidase domain 22 isoform 1							187.0	177.0	180.0					7																	87765310		1898	4115	6013	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87765310A>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1184A>T	7.37:g.87765310A>T	ENSP00000265727:p.Glu395Val					ADAM22_uc003ujk.1_Missense_Mutation_p.E395V|ADAM22_uc003ujl.1_Missense_Mutation_p.E395V|ADAM22_uc003ujm.2_Missense_Mutation_p.E395V|ADAM22_uc003ujo.2_Missense_Mutation_p.E395V|ADAM22_uc003ujp.1_Missense_Mutation_p.E447V	p.E395V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1263	+	Esophageal squamous(14;0.00202)		395			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1184A>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580570	0.65992	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.163735	0.53938	D	0.000057	T	0.19287	0.0463	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.34147	0.001;0.0;0.0;0.438	B;B;B;P	0.45971	0.006;0.001;0.004;0.499	T	0.12167	-1.0558	10	0.27785	T	0.31	.	14.564	0.68162	1.0:0.0:0.0:0.0	.	447;395;395;395	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	V	395;395;395;395;395;362	ENSP00000381262:E395V;ENSP00000381260:E395V;ENSP00000265727:E395V;ENSP00000315900:E395V;ENSP00000381267:E395V;ENSP00000381261:E362V	ENSP00000265727:E395V	E	+	2	0	ADAM22	87603246	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.302000	0.72788	2.035000	0.60131	0.383000	0.25322	GAG		PASS	0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		16	35	16	35	---	---	---	---
STEAP1	26872	broad.mit.edu	37	7	89791267	89791267	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:89791267G>A	ENST00000297205.2	+	4	837	c.637G>A	c.(637-639)Gtt>Att	p.V213I	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	213	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.V213I(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TGAGCATGATGTTTGGAGAAT	0.393																																						uc003ujx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)GTT>ATT		six transmembrane epithelial antigen of the							127.0	117.0	120.0					7																	89791267		2203	4298	6501	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791267G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.637G>A	7.37:g.89791267G>A	ENSP00000297205:p.Val213Ile					STEAP1_uc010lem.2_Missense_Mutation_p.V213I	p.V213I	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			4	837	+	all_hematologic(106;0.112)		213			Ferric oxidoreductase.		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.637G>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000164647	ENST00000297205	D	0.90900	-2.75	5.61	5.61	0.85477	Flavoprotein transmembrane component (1);	0.000000	0.53938	D	0.000043	D	0.94827	0.8329	M	0.64404	1.975	0.50467	D	0.999879	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.94846	0.8009	10	0.72032	D	0.01	-17.1068	19.6375	0.95740	0.0:0.0:1.0:0.0	.	213;213	B4E221;Q9UHE8	.;STEA1_HUMAN	I	213	ENSP00000297205:V213I	ENSP00000297205:V213I	V	+	1	0	STEAP1	89629203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.031000	0.93731	2.640000	0.89533	0.655000	0.94253	GTT		PASS	0.393	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		10	106	10	106	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92734091	92734091	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:92734091C>A	ENST00000379958.2	-	3	1589	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	440						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L440F(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCAAACTCCAATACAGCAA	0.353																																						uc003umf.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1318-1320)TTG>TTT		sterile alpha motif domain containing 9							46.0	45.0	45.0					7																	92734091		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734091C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1320G>T	7.37:g.92734091C>A	ENSP00000369292:p.Leu440Phe					SAMD9_uc003umg.2_Missense_Mutation_p.L440F	p.L440F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1576	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		440					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1320G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151695	0.38021	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21734	1.99;1.99	4.06	-0.356	0.12583	.	0.000000	0.43919	U	0.000520	T	0.30510	0.0767	L	0.55481	1.735	0.27359	N	0.956018	D	0.89917	1.0	D	0.91635	0.999	T	0.11616	-1.0580	10	0.27785	T	0.31	-4.8687	4.8249	0.13410	0.1652:0.2236:0.0:0.6112	.	440	Q5K651	SAMD9_HUMAN	F	440	ENSP00000369292:L440F;ENSP00000414529:L440F	ENSP00000369292:L440F	L	-	3	2	SAMD9	92572027	0.007000	0.16637	0.891000	0.34965	0.968000	0.65278	-1.409000	0.02483	0.047000	0.15862	0.603000	0.83216	TTG		PASS	0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		3	38	3	38	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93106878	93106878	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:93106878T>A	ENST00000394441.1	-	4	623	c.308A>T	c.(307-309)gAt>gTt	p.D103V	CALCR_ENST00000359558.2_Missense_Mutation_p.D121V|CALCR_ENST00000421592.1_Missense_Mutation_p.D103V|CALCR_ENST00000360249.4_Missense_Mutation_p.D103V|CALCR_ENST00000426151.1_Missense_Mutation_p.D103V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	121					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.D103V(1)|p.D121V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACCTGATGGATCAAAATCCGG	0.408																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(361-363)GAT>GTT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						83.0	76.0	78.0					7																	93106878		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93106878T>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.308A>T	7.37:g.93106878T>A	ENSP00000377959:p.Asp103Val					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.D103V|CALCR_uc003umw.2_Missense_Mutation_p.D103V	p.D121V	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	623	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		103			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.362A>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342504	0.41498	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.06	4.06	0.47325	.	.	.	.	.	T	0.79873	0.4521	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.955	D	0.86020	0.1506	9	0.87932	D	0	.	12.9474	0.58379	0.0:0.0:0.0:1.0	.	121;103	F5H605;A4D1G6	.;.	V	121;103;103;103;103;103	ENSP00000352561:D121V;ENSP00000353385:D103V;ENSP00000399552:D103V;ENSP00000377959:D103V;ENSP00000389295:D103V	ENSP00000352561:D121V	D	-	2	0	CALCR	92944814	1.000000	0.71417	0.845000	0.33349	0.059000	0.15707	7.323000	0.79105	2.057000	0.61298	0.455000	0.32223	GAT		PASS	0.408	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		4	25	4	25	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96653605	96653605	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:96653605C>G	ENST00000222598.4	-	1	804	c.331G>C	c.(331-333)Gtc>Ctc	p.V111L	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.V111L	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	111					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.V111L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCGCTTGGGACGCGGTTGTAG	0.637																																						uc003uon.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)GTC>CTC		distal-less homeobox 5							45.0	42.0	43.0					7																	96653605		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653605C>G		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.331G>C	7.37:g.96653605C>G	ENSP00000222598:p.Val111Leu					DLX5_uc011kim.1_Missense_Mutation_p.V111L	p.V111L	NM_005221	NP_005212	P56178	DLX5_HUMAN			1	539	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		111					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.331G>C	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210795	0.22289	.	.	ENSG00000105880	ENST00000222598	D	0.88046	-2.33	5.29	3.44	0.39384	.	0.267905	0.35436	N	0.003208	T	0.81331	0.4800	L	0.42245	1.32	0.28269	N	0.924507	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.64799	-0.6322	10	0.13853	T	0.58	-9.8787	15.1825	0.72972	0.0:0.8694:0.0:0.1306	.	111;111	B7Z4P3;P56178	.;DLX5_HUMAN	L	111	ENSP00000222598:V111L	ENSP00000222598:V111L	V	-	1	0	DLX5	96491541	0.917000	0.31117	0.997000	0.53966	0.767000	0.43475	2.807000	0.47955	0.819000	0.34492	-1.134000	0.01955	GTC		PASS	0.637	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			53	290	53	290	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97488680	97488680	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:97488680G>A	ENST00000394309.3	-	5	989	c.518C>T	c.(517-519)cCc>cTc	p.P173L	ASNS_ENST00000444334.1_Missense_Mutation_p.P152L|ASNS_ENST00000455086.1_Missense_Mutation_p.P90L|ASNS_ENST00000394308.3_Missense_Mutation_p.P173L|ASNS_ENST00000175506.4_Missense_Mutation_p.P173L|ASNS_ENST00000422745.1_Missense_Mutation_p.P152L|ASNS_ENST00000437628.1_Missense_Mutation_p.P90L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	173	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.P173L(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTTTAAAAAGGGAGTCGCGGA	0.373																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)CCC>CTC		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						75.0	80.0	78.0					7																	97488680		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488680G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.518C>T	7.37:g.97488680G>A	ENSP00000377846:p.Pro173Leu					ASNS_uc011kin.1_Missense_Mutation_p.P90L|ASNS_uc003uou.3_Missense_Mutation_p.P173L|ASNS_uc003uov.3_Missense_Mutation_p.P173L|ASNS_uc011kio.1_Missense_Mutation_p.P152L|ASNS_uc003uow.3_Missense_Mutation_p.P152L|ASNS_uc003uox.3_Missense_Mutation_p.P90L	p.P173L	NM_133436	NP_597680	P08243	ASNS_HUMAN			5	1024	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		173			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.518C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519040	0.27211	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.50548	0.75;0.75;0.74;0.75;0.76;0.74;0.76;0.96	4.61	3.65	0.41850	Glutamine amidotransferase, type II (1);	0.667215	0.15484	N	0.259915	T	0.22704	0.0548	N	0.04203	-0.255	0.20074	N	0.999931	B	0.02656	0.0	B	0.01281	0.0	T	0.08310	-1.0728	10	0.09843	T	0.71	-4.9951	11.4328	0.50052	0.0:0.0:0.8189:0.1811	.	173	P08243	ASNS_HUMAN	L	173;173;90;173;152;90;152;173	ENSP00000175506:P173L;ENSP00000377846:P173L;ENSP00000414379:P90L;ENSP00000377845:P173L;ENSP00000414901:P152L;ENSP00000408472:P90L;ENSP00000406994:P152L;ENSP00000400422:P173L	ENSP00000175506:P173L	P	-	2	0	ASNS	97326616	0.988000	0.35896	0.536000	0.28039	0.560000	0.35617	3.842000	0.55858	2.287000	0.76781	0.561000	0.74099	CCC		PASS	0.373	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		4	162	4	162	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100799995	100799995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:100799995C>T	ENST00000337619.5	+	2	242	c.124C>T	c.(124-126)Cga>Tga	p.R42*	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	42					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)	p.R42*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TGTCCTGGCTCGAAAGCCCAA	0.542																																						uc003uxv.3																			2	Substitution - Nonsense(2)		lung(1)|endometrium(1)		0						c.(124-126)CGA>TGA		adaptor-related protein complex 1, sigma 1							43.0	48.0	46.0					7																	100799995		2041	4180	6221	SO:0001587	stop_gained	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100799995C>T	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.124C>T	7.37:g.100799995C>T	ENSP00000336666:p.Arg42*						p.R42*	NM_001283	NP_001274	P61966	AP1S1_HUMAN			2	234	+	Lung NSC(181;0.168)|all_lung(186;0.215)		42					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Nonsense_Mutation	SNP	ENST00000337619.5	37	c.124C>T	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199257	0.94997	.	.	ENSG00000106367	ENST00000337619	.	.	.	5.84	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7624	9.7464	0.40448	0.2592:0.6656:0.0:0.0752	.	.	.	.	X	42	.	ENSP00000336666:R42X	R	+	1	2	AP1S1	100586715	0.133000	0.22466	1.000000	0.80357	0.992000	0.81027	0.353000	0.20130	0.795000	0.33922	0.561000	0.74099	CGA		PASS	0.542	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		6	59	6	59	---	---	---	---
ALKBH4	54784	broad.mit.edu	37	7	102098135	102098135	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:102098135C>T	ENST00000292566.3	-	3	654	c.615G>A	c.(613-615)tcG>tcA	p.S205S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	205					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.S205S(1)		kidney(1)|lung(5)|skin(2)	8						CCGACGGGGCCGAGCAGAGGA	0.711																																						uc003uzl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)TCG>TCA		alkB, alkylation repair homolog 4							5.0	7.0	7.0					7																	102098135		2113	4178	6291	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098135C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.615G>A	7.37:g.102098135C>T						ALKBH4_uc003uzm.2_Silent_p.S132S	p.S205S	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN			3	620	-			205					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.615G>A	CCDS5723.1																																																																																				PASS	0.711	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		6	44	6	44	---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102769006	102769006	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:102769006T>C	ENST00000417955.1	-	2	372	c.218A>G	c.(217-219)aAa>aGa	p.K73R	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.K73R|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.K73R|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.K146R|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.K73R			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	73					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.K73R(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGAGGGGTTTTTCCATGTTGG	0.403																																						uc003vbc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(217-219)AAA>AGA		N-acyl phosphatidylethanolamine phospholipase D							125.0	116.0	119.0					7																	102769006		2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102769006T>C	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.218A>G	7.37:g.102769006T>C	ENSP00000407112:p.Lys73Arg					NAPEPLD_uc003vbd.2_Missense_Mutation_p.K73R|NAPEPLD_uc011klj.1_Missense_Mutation_p.K146R|NAPEPLD_uc003vbe.2_RNA|NAPEPLD_uc003vbf.2_Missense_Mutation_p.K73R	p.K73R	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			2	546	-			73					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.218A>G	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	T	9.952	1.220489	0.22457	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	6.16	2.37	0.29283	.	0.383344	0.33916	N	0.004429	T	0.62270	0.2414	N	0.21545	0.675	0.34469	D	0.702612	B;B;B	0.20671	0.004;0.047;0.0	B;B;B	0.17433	0.004;0.018;0.001	T	0.54050	-0.8351	10	0.13853	T	0.58	-38.4602	6.5372	0.22361	0.1162:0.1268:0.0:0.757	.	146;73;73	B4E3B0;C9JGB1;Q6IQ20	.;.;NAPEP_HUMAN	R	73;73;73;73;146;73	ENSP00000340093:K73R;ENSP00000407112:K73R;ENSP00000419188:K73R;ENSP00000392775:K73R;ENSP00000414364:K146R;ENSP00000404391:K73R	ENSP00000340093:K73R	K	-	2	0	NAPEPLD	102556242	0.968000	0.33430	0.282000	0.24776	0.568000	0.35870	1.773000	0.38563	0.158000	0.19367	0.528000	0.53228	AAA		PASS	0.403	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		5	132	5	132	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						uc003vhb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(535-537)CAG>CAA		forkhead box P2 isoform I							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q204Q|FOXP2_uc003vha.2_Silent_p.Q87Q|FOXP2_uc011kmu.1_Silent_p.Q196Q|FOXP2_uc011kmv.1_Silent_p.Q179Q|FOXP2_uc010ljz.1_Silent_p.Q87Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhd.2_Silent_p.Q179Q|FOXP2_uc003vhc.2_Silent_p.Q204Q	p.Q179Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN			5	911	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.537G>A	CCDS5760.1																																																																																				PASS	0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	35	4	35	---	---	---	---
C7orf33	202865	broad.mit.edu	37	7	148288129	148288129	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:148288129C>T	ENST00000307003.2	+	1	473	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	38								p.L38F(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCGGATTGACCTTCGCCTGAG	0.557																																						uc003wew.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(112-114)CTT>TTT		hypothetical protein LOC202865							89.0	75.0	80.0					7																	148288129		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288129C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.112C>T	7.37:g.148288129C>T	ENSP00000304071:p.Leu38Phe						p.L38F	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	473	+	Melanoma(164;0.15)		38						Missense_Mutation	SNP	ENST00000307003.2	37	c.112C>T	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	9.306	1.054298	0.19907	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.83	0.967	0.19674	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	P	0.44429	0.835	P	0.46885	0.53	T	0.10474	-1.0628	8	0.87932	D	0	.	4.1062	0.10038	0.0:0.6153:0.2439:0.1408	.	38	Q8WU49	CG033_HUMAN	F	38	.	ENSP00000304071:L38F	L	+	1	0	C7orf33	147919062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.111000	0.15458	0.250000	0.21479	-0.266000	0.10368	CTT		PASS	0.557	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		46	156	46	156	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2813175	2813175	+	Silent	SNP	C	C	G	rs34079122	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:2813175C>G	ENST00000520002.1	-	65	10488	c.9933G>C	c.(9931-9933)ggG>ggC	p.G3311G	CSMD1_ENST00000537824.1_Silent_p.G3310G|CSMD1_ENST00000602723.1_Silent_p.G3134G|CSMD1_ENST00000400186.3_Silent_p.G3134G|CSMD1_ENST00000542608.1_Silent_p.G3133G|CSMD1_ENST00000602557.1_Silent_p.G3311G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3311	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G3039G(1)|p.G3310G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTCAGATCCCCCTGCGAGGA	0.493																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(9931-9933)GGG>GGC		CUB and Sushi multiple domains 1 precursor							139.0	133.0	135.0					8																	2813175		1976	4175	6151	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2813175C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9933G>C	8.37:g.2813175C>G						CSMD1_uc011kwj.1_Silent_p.G2640G|CSMD1_uc010lrg.2_Silent_p.G1202G	p.G3311G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	64	10323	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3311			Sushi 28.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9933G>C		.	.	.	.	.	.	.	.	.	.	c	4.219	0.039459	0.08148	.	.	ENSG00000183117	ENST00000335551	T	0.72725	-0.68	5.64	-3.14	0.05250	.	0.068710	0.56097	D	0.000022	T	0.64080	0.2566	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56613	-0.7950	7	0.54805	T	0.06	.	1.6174	0.02706	0.5068:0.1022:0.2092:0.1818	.	.	.	.	R	2728	ENSP00000334828:G2728R	ENSP00000334828:G2728R	G	-	1	0	CSMD1	2800582	0.148000	0.22702	0.025000	0.17156	0.561000	0.35649	-0.235000	0.09016	-1.267000	0.02443	-2.076000	0.00381	GGG		PASS	0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	13	6	13	---	---	---	---
SOX7	83595	broad.mit.edu	37	8	10584038	10584038	+	Missense_Mutation	SNP	C	C	G	rs536275473		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:10584038C>G	ENST00000304501.1	-	2	455	c.377G>C	c.(376-378)tGc>tCc	p.C126S	SOX7_ENST00000553390.1_Missense_Mutation_p.C178S|SOX7_ENST00000554914.1_Missense_Mutation_p.C178S|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	126					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.C126S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CACGCGCTTGCACAGCCGCTT	0.687																																						uc003wtf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(376-378)TGC>TCC		SRY-box 7							30.0	35.0	34.0					8																	10584038		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10584038C>G	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.377G>C	8.37:g.10584038C>G	ENSP00000301921:p.Cys126Ser					SOX7_uc011kwz.1_Missense_Mutation_p.C178S|uc003wtg.1_5'Flank	p.C126S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	456	-			126					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.377G>C	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032981	0.75504	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99422	-4.93;-5.88;-5.88	4.85	3.96	0.45880	.	0.050608	0.85682	D	0.000000	D	0.99133	0.9701	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.968	D;P	0.80764	0.994;0.554	D	0.99967	1.1878	10	0.09338	T	0.73	.	13.5445	0.61695	0.1567:0.8433:0.0:0.0	.	178;126	B4DKV0;Q9BT81	.;SOX7_HUMAN	S	126;178;178	ENSP00000301921:C126S;ENSP00000452017:C178S;ENSP00000451145:C178S	ENSP00000346908:C178S	C	-	2	0	SOX7;CTD-2135J3.4	10621448	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	5.784000	0.68990	1.223000	0.43536	0.561000	0.74099	TGC		PASS	0.687	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			34	30	34	30	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357035	13357035	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:13357035T>A	ENST00000276297.4	-	2	955	c.546A>T	c.(544-546)aaA>aaT	p.K182N	DLC1_ENST00000511869.1_Missense_Mutation_p.K182N|DLC1_ENST00000316609.5_Missense_Mutation_p.K182N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	182					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.K182N(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCAGTAACTTTTCTCTCCC	0.393																																						uc003wwm.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(544-546)AAA>AAT		deleted in liver cancer 1 isoform 1							119.0	124.0	122.0					8																	13357035		2203	4299	6502	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357035T>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.546A>T	8.37:g.13357035T>A	ENSP00000276297:p.Lys182Asn					DLC1_uc003wwn.2_Missense_Mutation_p.K182N|DLC1_uc011kxy.1_Missense_Mutation_p.K182N	p.K182N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	990	-			182					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.546A>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	9.674	1.147607	0.21288	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29397	1.57;1.57;1.57	5.12	5.12	0.69794	.	0.766586	0.11412	N	0.566664	T	0.25568	0.0622	L	0.52573	1.65	0.09310	N	1	B;P;B	0.43352	0.225;0.804;0.001	B;B;B	0.40134	0.047;0.32;0.001	T	0.35226	-0.9797	10	0.42905	T	0.14	.	2.3523	0.04287	0.1619:0.0822:0.1484:0.6076	.	182;182;182	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	182	ENSP00000276297:K182N;ENSP00000321034:K182N;ENSP00000425878:K182N	ENSP00000276297:K182N	K	-	3	2	DLC1	13401406	0.001000	0.12720	0.005000	0.12908	0.068000	0.16541	0.571000	0.23669	2.288000	0.76882	0.533000	0.62120	AAA		PASS	0.393	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	23	3	23	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37696509	37696509	+	Silent	SNP	C	C	A	rs148091415		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:37696509C>A	ENST00000412232.2	+	15	2308	c.2295C>A	c.(2293-2295)gcC>gcA	p.A765A	GPR124_ENST00000315215.7_Silent_p.A548A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	765					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A758A(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGGGGGCGCCGGGGCAGGGC	0.662																																						uc003xkj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(2293-2295)GCC>GCA		G protein-coupled receptor 124 precursor							34.0	36.0	35.0					8																	37696509		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37696509C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2295C>A	8.37:g.37696509C>A						GPR124_uc010lvy.2_Silent_p.A548A	p.A765A	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		15	2658	+			765			Extracellular (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.2295C>A	CCDS6097.2																																																																																				PASS	0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	198	4	198	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100712132	100712132	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:100712132T>C	ENST00000358544.2	+	36	6612	c.6501T>C	c.(6499-6501)ctT>ctC	p.L2167L	VPS13B_ENST00000357162.2_Silent_p.L2142L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2167					protein transport (GO:0015031)			p.L2142L(1)|p.L2167L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGGAAGCCTTAGTGTCAAGG	0.423																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6499-6501)CTT>CTC		vacuolar protein sorting 13B isoform 5							56.0	47.0	50.0					8																	100712132		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100712132T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6501T>C	8.37:g.100712132T>C						VPS13B_uc003yiw.2_Silent_p.L2142L	p.L2167L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		36	6612	+	Breast(36;3.73e-07)		2167					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.6501T>C	CCDS6280.1																																																																																				PASS	0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	8	6	8	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101154288	101154288	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:101154288C>A	ENST00000428847.2	-	2	510	c.194G>T	c.(193-195)aGa>aTa	p.R65I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	65					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R31I(2)|p.R65I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAAAAATCTCTGAAGGTGGA	0.393																																						uc003yjd.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(193-195)AGA>ATA		F-box protein 43 isoform b							54.0	56.0	56.0					8																	101154288		1900	4115	6015	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101154288C>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.194G>T	8.37:g.101154288C>A	ENSP00000403293:p.Arg65Ile					FBXO43_uc003yje.2_Missense_Mutation_p.R31I|FBXO43_uc010mbp.1_Missense_Mutation_p.R65I	p.R65I	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	907	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		65						Missense_Mutation	SNP	ENST00000428847.2	37	c.194G>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522188	0.13066	.	.	ENSG00000156509	ENST00000428847	T	0.32515	1.45	5.26	0.221	0.15283	.	0.754847	0.12480	N	0.465224	T	0.17280	0.0415	L	0.29908	0.895	0.20074	N	0.999938	B;B	0.14438	0.01;0.005	B;B	0.10450	0.005;0.002	T	0.22730	-1.0208	10	0.40728	T	0.16	-0.0019	1.6171	0.02705	0.1343:0.3243:0.1319:0.4095	.	31;65	C9J908;Q4G163	.;FBX43_HUMAN	I	65	ENSP00000403293:R65I	ENSP00000403293:R65I	R	-	2	0	FBXO43	101223464	0.270000	0.24152	0.001000	0.08648	0.114000	0.19823	0.392000	0.20801	-0.176000	0.10707	0.563000	0.77884	AGA		PASS	0.393	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		17	41	17	41	---	---	---	---
NUDCD1	84955	broad.mit.edu	37	8	110287659	110287659	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:110287659T>C	ENST00000239690.4	-	7	1469	c.1095A>G	c.(1093-1095)aaA>aaG	p.K365K	NUDCD1_ENST00000427660.2_Silent_p.K336K	NM_032869.3	NP_116258.2			NudC domain containing 1									p.K365K(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTCCCCTTGTTTATCTCCAA	0.393																																						uc003ynb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1093-1095)AAA>AAG		NudC domain containing 1 isoform 1							127.0	122.0	124.0					8																	110287659		2203	4300	6503	SO:0001819	synonymous_variant	84955							g.chr8:110287659T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1095A>G	8.37:g.110287659T>C						NUDCD1_uc003yna.2_Silent_p.K336K|NUDCD1_uc010mcl.2_Silent_p.K278K|NUDCD1_uc010mcm.1_Silent_p.K278K	p.K365K	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		7	1206	-	all_neural(195;0.219)		365						Silent	SNP	ENST00000239690.4	37	c.1095A>G	CCDS6312.1																																																																																				PASS	0.393	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		9	26	9	26	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164047	139164047	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:139164047G>A	ENST00000395297.1	-	13	2841	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	891								p.P891S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTCCTGGGGTTTTCAAGT	0.468										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2671-2673)CCC>TCC		hypothetical protein LOC51059							128.0	122.0	124.0					8																	139164047		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164047G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2671C>T	8.37:g.139164047G>A	ENSP00000378710:p.Pro891Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P792S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P453S|FAM135B_uc003yvb.2_Missense_Mutation_p.P453S	p.P891S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2842	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		891					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2671C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	4.866	0.160882	0.09287	.	.	ENSG00000147724	ENST00000395297	T	0.13538	2.58	5.33	-4.97	0.03029	.	1.430940	0.03571	N	0.228661	T	0.06826	0.0174	N	0.20986	0.625	0.09310	N	1	B;B;B	0.16603	0.018;0.01;0.003	B;B;B	0.14578	0.011;0.007;0.003	T	0.30179	-0.9987	10	0.17369	T	0.5	-1.5939	1.0275	0.01531	0.3973:0.1017:0.2108:0.2902	.	891;891;891	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	891	ENSP00000378710:P891S	ENSP00000276737:P891S	P	-	1	0	FAM135B	139233229	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.154000	0.16343	-0.568000	0.06038	-0.894000	0.02916	CCC		PASS	0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	167	4	167	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874434	144874434	+	Silent	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:144874434G>T	ENST00000320476.3	-	32	4476	c.4470C>A	c.(4468-4470)ctC>ctA	p.L1490L	SCRIB_ENST00000356994.2_Silent_p.L1490L|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Silent_p.L1409L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1490					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.L1490L(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGGGCCCGGAGCTCGGCAG	0.746																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(4468-4470)CTC>CTA		scribble isoform b							5.0	6.0	5.0					8																	144874434		2077	4090	6167	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874434G>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4470C>A	8.37:g.144874434G>T						SCRIB_uc003yzn.1_Silent_p.L223L|SCRIB_uc003yzo.1_Silent_p.L1490L	p.L1490L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		32	4477	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1490					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.4470C>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922105	0.17982	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.61	1.03	0.20045	.	.	.	.	.	T	0.57829	0.2080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52124	-0.8617	4	.	.	.	.	9.7553	0.40500	0.0:0.1203:0.5885:0.2911	.	.	.	.	T	510	.	.	P	-	1	0	SCRIB	144946422	0.994000	0.37717	0.992000	0.48379	0.787000	0.44495	0.128000	0.15810	0.310000	0.22990	0.556000	0.70494	CCG		PASS	0.746	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		9	24	9	24	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773151	145773151	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr8:145773151C>A	ENST00000276826.5	-	4	1520	c.1319G>T	c.(1318-1320)cGc>cTc	p.R440L	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R440L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R440L|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	440					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R440L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GACGCCCAGGCGCTGGTCCCT	0.711																																						uc003zdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)CGC>CTC		KIAA1688 protein							19.0	19.0	19.0					8																	145773151		2196	4296	6492	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773151C>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1319G>T	8.37:g.145773151C>A	ENSP00000276826:p.Arg440Leu					ARHGAP39_uc011llk.1_Missense_Mutation_p.R440L|ARHGAP39_uc003zds.1_Missense_Mutation_p.R440L	p.R440L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1874	-			440					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1319G>T		.	.	.	.	.	.	.	.	.	.	C	13.96	2.393336	0.42410	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72835	-0.69;-0.42;-0.69	5.37	4.49	0.54785	.	0.425190	0.28098	N	0.016609	T	0.78805	0.4341	L	0.50333	1.59	0.42372	D	0.992456	D;D	0.69078	0.997;0.994	D;D	0.76071	0.987;0.954	T	0.79850	-0.1629	10	0.62326	D	0.03	-7.3268	11.6329	0.51187	0.0:0.9129:0.0:0.0871	.	440;440	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	L	440	ENSP00000276826:R440L;ENSP00000366522:R440L;ENSP00000445075:R440L	ENSP00000276826:R440L	R	-	2	0	ARHGAP39	145743959	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	2.141000	0.42168	1.262000	0.44165	0.655000	0.94253	CGC		PASS	0.711	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			15	48	15	48	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:13205963C>T	ENST00000319217.7	-	11	1673	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	MPDZ_ENST00000381015.4_Missense_Mutation_p.V476I|MPDZ_ENST00000447879.1_Missense_Mutation_p.V476I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476I|MPDZ_ENST00000536827.1_Missense_Mutation_p.V476I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.V476I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418																																						uc010mia.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(1426-1428)GTC>ATC		multiple PDZ domain protein							204.0	190.0	195.0					9																	13205963		1924	4142	6066	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13205963C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1426G>A	9.37:g.13205963C>T	ENSP00000320006:p.Val476Ile					MPDZ_uc010mhy.2_Missense_Mutation_p.V476I|MPDZ_uc010mhz.2_Missense_Mutation_p.V476I|MPDZ_uc011lmn.1_Missense_Mutation_p.V476I|MPDZ_uc003zlb.3_Missense_Mutation_p.V476I	p.V476I	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	10	1483	-			476					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1426G>A		.	.	.	.	.	.	.	.	.	.	C	10.95	1.496931	0.26861	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.88;2.84;2.84;2.82;2.87;2.88;2.89	6.17	-3.11	0.05299	.	0.783752	0.10770	N	0.636105	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.002;0.003	T	0.43475	-0.9389	10	0.18710	T	0.47	.	7.6992	0.28613	0.0:0.4327:0.1051:0.4622	.	476;476;476	B7ZMI4;O75970-3;O75970-2	.;.;.	I	476	ENSP00000320006:V476I;ENSP00000439807:V476I;ENSP00000370410:V476I;ENSP00000444151:V476I;ENSP00000415208:V476I;ENSP00000370403:V476I;ENSP00000446358:V476I	ENSP00000320006:V476I	V	-	1	0	MPDZ	13195963	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.095000	0.01350	-1.007000	0.03408	-0.812000	0.03155	GTC		PASS	0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		8	9	8	9	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27948899	27948899	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:27948899C>A	ENST00000379992.2	-	6	2220	c.1771G>T	c.(1771-1773)Gtg>Ttg	p.V591L	LINGO2_ENST00000308675.3_Missense_Mutation_p.V591L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	591						integral component of membrane (GO:0016021)		p.V591L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCCCCTTCCACAACAGCACCA	0.448																																						uc003zqu.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1771-1773)GTG>TTG		leucine rich repeat and Ig domain containing 2							123.0	110.0	115.0					9																	27948899		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948899C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1771G>T	9.37:g.27948899C>A	ENSP00000369328:p.Val591Leu					LINGO2_uc010mjf.1_Missense_Mutation_p.V591L|LINGO2_uc003zqv.1_Missense_Mutation_p.V591L	p.V591L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1965	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	591			Cytoplasmic (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1771G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129332	0.37630	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.56776	0.44;0.44	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	N	0.08118	0	0.46376	D	0.99901	B	0.31581	0.329	B	0.29942	0.109	T	0.17289	-1.0374	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	591	Q7L985	LIGO2_HUMAN	L	591	ENSP00000369328:V591L;ENSP00000310126:V591L	.	V	-	1	0	LINGO2	27938899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.835000	0.69368	2.884000	0.98904	0.655000	0.94253	GTG		PASS	0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		3	33	3	33	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37441983	37441983	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:37441983C>T	ENST00000307750.4	-	2	754	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R189H(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTTATGAAGGCGTCTCATGGG	0.597																																						uc003zzx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(565-567)CGC>CAC		zinc finger and BTB domain containing 5							55.0	58.0	57.0					9																	37441983		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441983C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.566G>A	9.37:g.37441983C>T	ENSP00000307604:p.Arg189His						p.R189H	NM_014872	NP_055687	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	766	-			189						Missense_Mutation	SNP	ENST00000307750.4	37	c.566G>A	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296850	0.81025	.	.	ENSG00000168795	ENST00000307750	T	0.11169	2.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.01146	-1.1437	10	0.32370	T	0.25	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	189	O15062	ZBTB5_HUMAN	H	189	ENSP00000307604:R189H	ENSP00000307604:R189H	R	-	2	0	ZBTB5	37431983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.992000	0.76238	2.884000	0.98904	0.655000	0.94253	CGC		PASS	0.597	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		6	165	6	165	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131024972	131024972	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:131024972T>C	ENST00000421699.2	-	13	935	c.923A>G	c.(922-924)gAg>gGg	p.E308G	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E296G	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	308					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E296G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTTCAGGTCCTCATTGCTTTG	0.483																																						uc011maw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(922-924)GAG>GGG		Golgi autoantigen, golgin subfamily a, 2							101.0	91.0	95.0					9																	131024972		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131024972T>C	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.923A>G	9.37:g.131024972T>C	ENSP00000416097:p.Glu308Gly					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.E209G|uc004bun.2_5'Flank	p.E308G	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			13	936	-			308			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.923A>G	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	t	18.24	3.580107	0.65992	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.23950	1.88;1.88	5.45	5.45	0.79879	.	0.050265	0.85682	D	0.000000	T	0.51856	0.1699	M	0.77616	2.38	0.47065	D	0.999309	D	0.76494	0.999	D	0.74674	0.984	T	0.55566	-0.8121	10	0.56958	D	0.05	.	14.69	0.69080	0.0:0.0:0.0:1.0	.	308	Q08379	GOGA2_HUMAN	G	308;335	ENSP00000416097:E308G;ENSP00000409271:E335G	ENSP00000416097:E308G	E	-	2	0	GOLGA2	130064793	1.000000	0.71417	0.624000	0.29186	0.041000	0.13682	5.342000	0.65970	2.066000	0.61787	0.397000	0.26171	GAG		PASS	0.483	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		3	57	3	57	---	---	---	---
CCBL1	883	broad.mit.edu	37	9	131597803	131597803	+	Silent	SNP	G	G	T	rs201434056	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:131597803G>T	ENST00000302586.3	-	10	1161	c.999C>A	c.(997-999)atC>atA	p.I333I	CCBL1_ENST00000320665.6_Silent_p.I283I|CCBL1_ENST00000436267.2_Silent_p.I427I|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	333					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.I333I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TGCCCTGAGGGATGATGGGCT	0.612																																						uc004bwh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(997-999)ATC>ATA		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						90.0	91.0	91.0					9																	131597803		2119	4246	6365	SO:0001819	synonymous_variant	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597803G>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.999C>A	9.37:g.131597803G>T						CCBL1_uc004bwf.2_Silent_p.I367I|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Silent_p.I333I|CCBL1_uc004bwj.2_Silent_p.I283I|CCBL1_uc011mbl.1_Silent_p.I427I|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Silent_p.I290I	p.I333I	NM_004059	NP_004050	Q16773	KAT1_HUMAN			10	1184	-			333					Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	c.999C>A	CCDS43884.1																																																																																				PASS	0.612	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			98	187	98	187	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131859550	131859550	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:131859550G>A	ENST00000318080.2	-	12	1800	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	502					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.A502A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGCCTCGGTGGGCCTGCACGG	0.617																																						uc004bxh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1504-1506)GCC>GCT		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						62.0	38.0	46.0					9																	131859550		2196	4286	6482	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131859550G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1506C>T	9.37:g.131859550G>A						CRAT_uc004bxg.2_Silent_p.A481A|CRAT_uc004bxk.3_Silent_p.A481A	p.A502A	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	12	1788	-			502					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.1506C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550263	0.27652	.	.	ENSG00000095321	ENST00000455396	.	.	.	5.69	0.234	0.15390	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52245	-0.8601	4	.	.	.	-33.5252	10.2945	0.43616	0.0:0.1235:0.3671:0.5093	.	.	.	.	S	101	.	.	P	-	1	0	CRAT	130899371	0.540000	0.26410	0.998000	0.56505	0.883000	0.51084	-0.383000	0.07398	0.037000	0.15575	0.650000	0.86243	CCA		PASS	0.617	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			10	5	10	5	---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133506963	133506963	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:133506963C>T	ENST00000319725.9	+	14	1373	c.1298C>T	c.(1297-1299)cCt>cTt	p.P433L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	433					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P433L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTCGGAGCACCTGGAGCCTTC	0.602																																						uc004bzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)CCT>CTT		far upstream element (FUSE) binding protein 3							54.0	64.0	61.0					9																	133506963		1974	4171	6145	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133506963C>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1298C>T	9.37:g.133506963C>T	ENSP00000318177:p.Pro433Leu					FUBP3_uc004bzs.1_Missense_Mutation_p.P346L	p.P433L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	14	1406	+			433					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1298C>T	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919707	0.33908	.	.	ENSG00000107164	ENST00000319725	T	0.53857	0.6	4.55	4.55	0.56014	.	0.331149	0.35262	N	0.003337	T	0.43277	0.1240	L	0.34521	1.04	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.15484	0.013;0.013	T	0.27536	-1.0071	10	0.30078	T	0.28	-2.4966	16.4893	0.84195	0.0:1.0:0.0:0.0	.	433;433	A3KFK8;Q96I24	.;FUBP3_HUMAN	L	433	ENSP00000318177:P433L	ENSP00000318177:P433L	P	+	2	0	FUBP3	132496784	0.329000	0.24696	0.956000	0.39512	0.988000	0.76386	2.735000	0.47377	2.353000	0.79882	0.561000	0.74099	CCT		PASS	0.602	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			50	23	50	23	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31139078	31139078	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:31139078C>A	ENST00000361310.3	-	6	585	c.256G>T	c.(256-258)Gct>Tct	p.A86S	ZNF438_ENST00000436087.2_Missense_Mutation_p.A86S|ZNF438_ENST00000413025.1_Missense_Mutation_p.A86S|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000442986.1_Missense_Mutation_p.A86S|ZNF438_ENST00000331737.6_Missense_Mutation_p.A76S|ZNF438_ENST00000538351.2_Missense_Mutation_p.A37S|ZNF438_ENST00000452305.1_Missense_Mutation_p.A76S|ZNF438_ENST00000444692.2_Missense_Mutation_p.A76S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	86					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A86S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCTGGCCAGCAACCTGCATC	0.517																																						uc010qdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(256-258)GCT>TCT		zinc finger protein 438 isoform a							122.0	122.0	122.0					10																	31139078		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31139078C>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.256G>T	10.37:g.31139078C>A	ENSP00000354663:p.Ala86Ser					ZNF438_uc001ivn.2_Missense_Mutation_p.A37S|ZNF438_uc010qdy.1_Missense_Mutation_p.A76S|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.A86S|ZNF438_uc001ivp.3_Missense_Mutation_p.A76S|ZNF438_uc010qea.1_Missense_Mutation_p.A86S|ZNF438_uc010qeb.1_Missense_Mutation_p.A86S|ZNF438_uc010qec.1_Intron	p.A86S	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	691	-		Prostate(175;0.0587)	86					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.256G>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236306	0.79800	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.63	2.68	0.31781	.	0.143176	0.64402	N	0.000006	T	0.55816	0.1944	M	0.76002	2.32	0.47245	D	0.999368	P;P	0.49358	0.874;0.923	B;B	0.42771	0.223;0.397	T	0.56105	-0.8034	10	0.59425	D	0.04	-11.1029	8.5626	0.33520	0.274:0.6546:0.0:0.0713	.	86;76	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	76;86;86;86;86;76;76;37	ENSP00000333571:A76S;ENSP00000354663:A86S;ENSP00000406934:A86S;ENSP00000412363:A86S;ENSP00000387546:A86S;ENSP00000413060:A76S;ENSP00000410898:A76S;ENSP00000445461:A37S	ENSP00000333571:A76S	A	-	1	0	ZNF438	31179084	0.961000	0.32948	0.585000	0.28666	0.980000	0.70556	2.229000	0.42990	0.287000	0.22375	0.655000	0.94253	GCT		PASS	0.517	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		43	72	43	72	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429112	48429112	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:48429112G>T	ENST00000224605.2	-	2	1039	c.774C>A	c.(772-774)agC>agA	p.S258R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	258					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.S258R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCACTGCCACGCTGTTGGGCT	0.687																																						uc001jfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(772-774)AGC>AGA		growth differentiation factor 10 precursor							13.0	16.0	15.0					10																	48429112		2193	4296	6489	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429112G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.774C>A	10.37:g.48429112G>T	ENSP00000224605:p.Ser258Arg					GDF10_uc009xnp.2_Missense_Mutation_p.S257R|GDF10_uc009xnq.1_Missense_Mutation_p.S258R	p.S258R	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1230	-			258					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.774C>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942912	0.73672	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.81163	-1.46	5.6	-2.69	0.06022	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.80183	2.485	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85257	0.1048	10	0.44086	T	0.13	.	12.7235	0.57156	0.7281:0.0:0.2719:0.0	.	68;258	Q8N6T2;P55107	.;BMP3B_HUMAN	R	68;258	ENSP00000224605:S258R	ENSP00000224605:S258R	S	-	3	2	GDF10	48049118	0.845000	0.29573	0.984000	0.44739	0.979000	0.70002	0.030000	0.13688	-0.371000	0.08004	0.561000	0.74099	AGC		PASS	0.687	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		181	20	181	20	---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52103273	52103273	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:52103273T>A	ENST00000361781.2	-	7	1561	c.602A>T	c.(601-603)cAg>cTg	p.Q201L	SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.Q201L|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	207					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.Q201L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGCCACTGAATTAACCA	0.358																																						uc001jje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(601-603)CAG>CTG		sphingomyelin synthase 1							31.0	34.0	33.0					10																	52103273		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103273T>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.602A>T	10.37:g.52103273T>A	ENSP00000354829:p.Gln201Leu					SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.Q201L|SGMS1_uc010qhl.1_RNA	p.Q201L	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN			7	1556	-			207			Helical; (Potential).		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.602A>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203101	0.58234	.	.	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.41400	1.0;1.0	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	N	0.20574	0.59	0.80722	D	1	B	0.28713	0.22	B	0.26864	0.074	T	0.10132	-1.0643	10	0.21540	T	0.41	-16.1418	14.3596	0.66761	0.0:0.0:0.0:1.0	.	207	Q86VZ5	SMS1_HUMAN	L	201	ENSP00000354829:Q201L;ENSP00000355235:Q201L	ENSP00000355235:Q201L	Q	-	2	0	SGMS1	51773279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.275000	0.75901	0.528000	0.53228	CAG		PASS	0.358	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		18	13	18	13	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61832077	61832077	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:61832077T>C	ENST00000280772.2	-	37	8753	c.8562A>G	c.(8560-8562)acA>acG	p.T2854T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2854					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T2854T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACTCTCCCATGTTCTAAAGA	0.428																																						uc001jky.2																			1	Substitution - coding silent(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(8560-8562)ACA>ACG		ankyrin 3 isoform 1							69.0	75.0	73.0					10																	61832077		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832077T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8562A>G	10.37:g.61832077T>C						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.T2854T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	8754	-			2854					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.8562A>G	CCDS7258.1																																																																																				PASS	0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		18	24	18	24	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73558235	73558235	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:73558235G>A	ENST00000224721.6	+	49	6974	c.6969G>A	c.(6967-6969)gtG>gtA	p.V2323V	CDH23_ENST00000398788.3_Silent_p.V78V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2318	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V2323V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCATTGCTGTGGCAGCCGTGG	0.612																																						uc001jrx.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(6952-6954)GTG>GTA		cadherin-like 23 isoform 1 precursor							48.0	51.0	50.0					10																	73558235		1976	4156	6132	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558235G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6969G>A	10.37:g.73558235G>A						CDH23_uc001jsg.3_Silent_p.V78V|CDH23_uc001jsh.3_Silent_p.V78V|CDH23_uc001jsi.3_Silent_p.V78V	p.V2318V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			48	7331	+			2318			Cadherin 22.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.6954G>A																																																																																					PASS	0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		85	67	85	67	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	83635374	83635374	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:83635374C>A	ENST00000404547.1	+	1	278	c.278C>A	c.(277-279)tCc>tAc	p.S93Y	NRG3_ENST00000372141.2_Missense_Mutation_p.S93Y|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	93					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S93Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTGGTGGGCTCCGTCAAGGAG	0.612																																						uc001kco.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(1)	6						c.(277-279)TCC>TAC		neuregulin 3 isoform 1							84.0	72.0	76.0					10																	83635374		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635374C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.278C>A	10.37:g.83635374C>A	ENSP00000384796:p.Ser93Tyr					NRG3_uc010qlz.1_Missense_Mutation_p.S93Y|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.S93Y	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	305	+			93			Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.278C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.524088	0.64747	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.34275	1.37;1.38	2.75	2.75	0.32379	.	.	.	.	.	T	0.42899	0.1223	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.43605	-0.9381	9	0.72032	D	0.01	-19.1741	11.3576	0.49625	0.0:1.0:0.0:0.0	.	93;93	B9EGV5;P56975-4	.;.	Y	93	ENSP00000361214:S93Y;ENSP00000384796:S93Y	ENSP00000361214:S93Y	S	+	2	0	NRG3	83625354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.340000	0.72973	1.560000	0.49568	0.459000	0.35465	TCC		PASS	0.612	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		42	107	42	107	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88260207	88260207	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:88260207C>G	ENST00000298767.5	-	3	1265	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.D265H(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAATCGTCATCCTTCATCTCC	0.358																																						uc001kdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)GAT>CAT		wings apart-like homolog							83.0	80.0	81.0					10																	88260207		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260207C>G	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.793G>C	10.37:g.88260207C>G	ENSP00000298767:p.Asp265His					WAPAL_uc001kdn.2_Missense_Mutation_p.D308H|WAPAL_uc009xsw.2_Missense_Mutation_p.D265H	p.D265H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1235	-			265			Mediates interaction with the cohesin complex.|Potential.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.793G>C	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786191	0.31593	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.49720	0.77	5.77	4.68	0.58851	.	0.535917	0.20186	N	0.097418	T	0.45337	0.1337	L	0.34521	1.04	0.80722	D	1	P;P;P	0.40794	0.61;0.61;0.729	B;B;B	0.44278	0.188;0.188;0.445	T	0.49273	-0.8957	10	0.72032	D	0.01	.	15.7024	0.77552	0.0:0.9237:0.0:0.0763	.	265;265;308	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	H	350;265;350	ENSP00000298767:D265H	ENSP00000298767:D265H	D	-	1	0	WAPAL	88250187	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.894000	0.39768	2.717000	0.92951	0.650000	0.86243	GAT		PASS	0.358	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	17	16	17	---	---	---	---
TLX1	3195	broad.mit.edu	37	10	102893992	102893992	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:102893992G>T	ENST00000370196.6	+	2	2671	c.629G>T	c.(628-630)cGc>cTc	p.R210L	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_Missense_Mutation_p.R210L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	210					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R210L(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCCTTCACACGCCTGCAGATC	0.637			T	"""TRB@, TRD@"""	T-ALL																																	uc001ksw.2				Dom	yes		10	10q24	3195	T	""" T-cell leukemia, homeobox 1 (HOX11)"""			L	TRB@|TRD@		T-ALL		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(628-630)CGC>CTC		T-cell leukemia homeobox 1							45.0	46.0	46.0					10																	102893992		2201	4298	6499	SO:0001583	missense	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102893992G>T	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.629G>T	10.37:g.102893992G>T	ENSP00000359215:p.Arg210Leu						p.R210L	NM_005521	NP_005512	P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	2	867	+			210			Homeobox.		A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	c.629G>T	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	G	37	6.014100	0.97200	.	.	ENSG00000107807	ENST00000370196;ENST00000467928	D;D	0.96232	-3.76;-3.95	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97981	1.0349	10	0.87932	D	0	.	20.1775	0.98187	0.0:0.0:1.0:0.0	.	210	P31314	TLX1_HUMAN	L	210	ENSP00000359215:R210L;ENSP00000434914:R210L	ENSP00000359215:R210L	R	+	2	0	TLX1	102883982	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.988000	0.88194	2.771000	0.95319	0.561000	0.74099	CGC		PASS	0.637	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		22	26	22	26	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113924309	113924309	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:113924309C>T	ENST00000348367.4	-	13	1478	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	GPAM_ENST00000423155.1_Silent_p.A427A|GPAM_ENST00000369425.1_Silent_p.A427A			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	427					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.A427A(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTGGTAACAACGCTTGCTCCA	0.363																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1279-1281)GCG>GCA		mitochondrial glycerol 3-phosphate							72.0	74.0	73.0					10																	113924309		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113924309C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1281G>A	10.37:g.113924309C>T						GPAM_uc001kzp.2_Silent_p.A427A|GPAM_uc001kzq.1_Silent_p.A427A	p.A427A	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	13	1479	-			427					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.1281G>A	CCDS7570.1																																																																																				PASS	0.363	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		3	7	3	7	---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116606016	116606016	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:116606016A>G	ENST00000369248.4	+	10	1623	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.M430V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	430								p.M430V(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCTTCAAGAAATGGTGTTTTT	0.433																																						uc001lcb.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1288-1290)ATG>GTG		hypothetical protein LOC57700 isoform a							173.0	164.0	167.0					10																	116606016		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116606016A>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1288A>G	10.37:g.116606016A>G	ENSP00000358251:p.Met430Val					FAM160B1_uc001lcc.2_Missense_Mutation_p.M430V	p.M430V	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			10	1623	+			430					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1288A>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055387	0.36277	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.26518	1.73;1.73	6.17	6.17	0.99709	.	0.238372	0.56097	D	0.000022	T	0.12732	0.0309	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.24835	-1.0149	10	0.19147	T	0.46	-14.7906	9.5334	0.39207	0.7576:0.1239:0.0:0.1185	.	430;430	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	430	ENSP00000358251:M430V;ENSP00000358253:M430V	ENSP00000358251:M430V	M	+	1	0	FAM160B1	116596006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.975000	0.56859	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.433	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		34	45	34	45	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128798486	128798486	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:128798486G>T	ENST00000280333.6	+	10	1009	c.900G>T	c.(898-900)caG>caT	p.Q300H	RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	300					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q300H(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGTCTGTCAGATTGTTCGCG	0.453																																						uc001ljt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(898-900)CAG>CAT		dedicator of cytokinesis 1							93.0	98.0	96.0					10																	128798486		1928	4140	6068	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128798486G>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.900G>T	10.37:g.128798486G>T	ENSP00000280333:p.Gln300His					DOCK1_uc010qun.1_Missense_Mutation_p.Q300H	p.Q300H	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	10	964	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	300					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.900G>T		.	.	.	.	.	.	.	.	.	.	G	16.85	3.237365	0.58886	.	.	ENSG00000150760	ENST00000280333	T	0.18016	2.24	4.0	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	L	0.41906	1.305	0.48341	D	0.99963	D;D	0.89917	0.983;1.0	D;D	0.70935	0.942;0.971	T	0.03566	-1.1024	10	0.15066	T	0.55	.	9.8305	0.40939	0.1708:0.0:0.8292:0.0	.	300;300	B2RUU3;Q14185	.;DOCK1_HUMAN	H	300	ENSP00000280333:Q300H	ENSP00000280333:Q300H	Q	+	3	2	DOCK1	128688476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.108000	0.50337	1.276000	0.44395	0.655000	0.94253	CAG		PASS	0.453	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		4	43	4	43	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135025267	135025267	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr10:135025267G>T	ENST00000304613.3	+	23	4162	c.4141G>T	c.(4141-4143)Ggc>Tgc	p.G1381C	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1383C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1381					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G1381C(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAACCCTCGCGGCACAGACCT	0.662																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4141-4143)GGC>TGC		kinase non-catalytic C-lobe domain (KIND)							39.0	39.0	39.0					10																	135025267		2202	4299	6501	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025267G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4141G>T	10.37:g.135025267G>T	ENSP00000304437:p.Gly1381Cys						p.G1381C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	23	4142	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1381					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4141G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	0.834	-0.744189	0.03065	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.30981	1.51;1.51	3.34	-2.44	0.06502	Ras guanine nucleotide exchange factor, domain (1);	1.176820	0.06429	U	0.723675	T	0.19208	0.0461	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.22386	0.039	T	0.25916	-1.0118	10	0.37606	T	0.19	-10.3462	12.5612	0.56281	0.1245:0.0:0.8755:0.0	.	1381	Q76NI1	VKIND_HUMAN	C	1381;1383	ENSP00000304437:G1381C;ENSP00000357561:G1383C	ENSP00000304437:G1381C	G	+	1	0	KNDC1	134875257	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.307000	0.08167	-1.014000	0.03379	-2.027000	0.00425	GGC		PASS	0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		42	77	42	77	---	---	---	---
RIC8A	60626	broad.mit.edu	37	11	212652	212652	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:212652A>T	ENST00000526104.1	+	7	2447	c.1103A>T	c.(1102-1104)gAg>gTg	p.E368V	RIC8A_ENST00000527696.1_Missense_Mutation_p.E362V|RIC8A_ENST00000325207.5_Missense_Mutation_p.E374V			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	368					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E374V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACGGCCTGAGGTTGGGGAG	0.602																																						uc001log.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GAG>GTG		resistance to inhibitors of cholinesterase 8							72.0	65.0	67.0					11																	212652		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:212652A>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1103A>T	11.37:g.212652A>T	ENSP00000432008:p.Glu368Val					RIC8A_uc001lof.2_Missense_Mutation_p.E374V|RIC8A_uc001loh.2_Missense_Mutation_p.E361V	p.E368V	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	1428	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	368					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.1103A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.328118|4.328118	0.81690|0.81690	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000527728	T;T;T|.	0.52526|.	0.66;0.82;0.66|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Synembryn (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79441|0.79441	0.4446|0.4446	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.99;0.983;0.986|.	T|T	0.83223|0.83223	-0.0067|-0.0067	10|5	0.54805|.	T|.	0.06|.	-18.649|-18.649	13.5651|13.5651	0.61813|0.61813	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	362;368;374|.	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3|.	.;RIC8A_HUMAN;.|.	V|W	368;374;362|263	ENSP00000432008:E368V;ENSP00000325941:E374V;ENSP00000434833:E362V|.	ENSP00000325941:E374V|.	E|R	+|+	2|1	0|2	RIC8A|RIC8A	202652|202652	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.772000|0.772000	0.43724|0.43724	9.211000|9.211000	0.95120|0.95120	1.962000|1.962000	0.57031|0.57031	0.459000|0.459000	0.35465|0.35465	GAG|AGG		PASS	0.602	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		18	81	18	81	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1266611	1266611	+	Missense_Mutation	SNP	G	G	C	rs183218730	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:1266611G>C	ENST00000529681.1	+	31	8559	c.8501G>C	c.(8500-8502)aGg>aCg	p.R2834T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R2837T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2834	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|R -> T (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R2834T(1)|p.R2813T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCACACCAGGGCCACCTCC	0.692													-|||	46	0.0091853	0.0083	0.0072	5008	,	,		12538	0.0		0.0268	False		,,,				2504	0.0031					uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(10249-10251)AGG>ACG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;																																				SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266611G>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8501G>C	11.37:g.1266611G>C	ENSP00000436812:p.Arg2834Thr					MUC5B_uc001ltb.2_Missense_Mutation_p.R2837T	p.R3417T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	10376	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2834	R -> T (in Ref. 4; CAA96577).|Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10250G>C	CCDS44515.2	22	0.010073260073260074	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	13	0.017150395778364115	-	3.852	-0.031729	0.07543	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.57	2.72	-1.1	0.09872	.	.	.	.	.	T	0.03178	0.0093	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29518	-1.0009	9	0.87932	D	0	.	3.6752	0.08290	0.1416:0.3489:0.4035:0.1061	.	3417;2837	A7Y9J9;E9PBJ0	.;.	T	2834;2837;2806;2794	ENSP00000436812:R2834T;ENSP00000415793:R2837T	ENSP00000343037:R2806T	R	+	2	0	MUC5B	1223187	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.194000	0.03046	-0.307000	0.08804	-1.417000	0.01113	AGG		PASS	0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	366	17	366	---	---	---	---
BRSK2	9024	broad.mit.edu	37	11	1466647	1466647	+	Silent	SNP	C	C	T	rs199880359		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:1466647C>T	ENST00000528841.1	+	10	1320	c.936C>T	c.(934-936)ttC>ttT	p.F312F	BRSK2_ENST00000528710.1_Silent_p.F252F|BRSK2_ENST00000308230.5_Silent_p.F312F|BRSK2_ENST00000382179.1_Silent_p.F358F|BRSK2_ENST00000308219.9_Silent_p.F312F|BRSK2_ENST00000531197.1_Silent_p.F312F|BRSK2_ENST00000526678.1_Silent_p.F312F|BRSK2_ENST00000544817.1_Silent_p.F7F			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	312	UBA.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.F312F(1)|p.R313*(1)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGGCTGCTTCCGAGACCGCA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15087	0.0		0.0	False		,,,				2504	0.0					uc001lti.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(934-936)TTC>TTT		BR serine/threonine kinase 2							31.0	38.0	36.0					11																	1466647		2129	4236	6365	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1466647C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.936C>T	11.37:g.1466647C>T						BRSK2_uc009ycv.1_Silent_p.F312F|BRSK2_uc001lth.1_Silent_p.F312F|BRSK2_uc001ltj.2_Silent_p.F312F|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.F312F|BRSK2_uc001ltm.2_Silent_p.F358F|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.F312F	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	10	1322	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	312			UBA.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.936C>T	CCDS58107.1																																																																																				PASS	0.687	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		16	81	16	81	---	---	---	---
OR52I2	143502	broad.mit.edu	37	11	4608932	4608932	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:4608932A>G	ENST00000312614.4	+	1	912	c.890A>G	c.(889-891)gAt>gGt	p.D297G		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D297G(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGGCAGGATGTAGTGCCC	0.517																																						uc010qyh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(889-891)GAT>GGT		olfactory receptor, family 52, subfamily I,							216.0	199.0	205.0					11																	4608932		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608932A>G	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.890A>G	11.37:g.4608932A>G	ENSP00000308764:p.Asp297Gly						p.D297G	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	890	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	297			Extracellular (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.890A>G	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	A	1.482	-0.556887	0.03967	.	.	ENSG00000226288	ENST00000312614	T	0.72615	-0.67	4.18	-1.16	0.09678	GPCR, rhodopsin-like superfamily (1);	0.143577	0.31589	N	0.007390	T	0.48554	0.1506	N	0.17674	0.51	0.09310	N	1	B	0.19200	0.034	B	0.22152	0.038	T	0.37454	-0.9705	10	0.56958	D	0.05	-0.1795	5.2679	0.15609	0.49:0.1529:0.3571:0.0	.	297	Q8NH67	O52I2_HUMAN	G	297	ENSP00000308764:D297G	ENSP00000308764:D297G	D	+	2	0	OR52I2	4565508	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	-1.017000	0.03630	-0.081000	0.12662	0.524000	0.50904	GAT		PASS	0.517	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		27	165	27	165	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142097	5142097	+	RNA	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:5142097C>T	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A238T(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTAAGTCGTGCCTCTTTCAGA	0.353																																						uc001lzz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(712-714)GCA>ACA		olfactory receptor, family 52, subfamily A,							43.0	50.0	48.0					11																	5142097		2196	4295	6491			390053							g.chr11:5142097C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142097C>T							p.A238T	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	712	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.712G>A		.	.	.	.	.	.	.	.	.	.	C	1.192	-0.634884	0.03584	.	.	ENSG00000248953	ENST00000380369	.	.	.	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60894	0.2304	.	.	.	0.22610	N	0.99894	P	0.44195	0.828	P	0.53102	0.718	T	0.72503	-0.4273	6	0.72032	D	0.01	.	9.7673	0.40567	0.0:0.896:0.0:0.104	.	238	A6NMU1	O52A4_HUMAN	T	238	.	ENSP00000369727:A238T	A	-	1	0	OR52A4	5098673	0.001000	0.12720	0.110000	0.21437	0.057000	0.15508	1.358000	0.34102	2.172000	0.68678	0.655000	0.94253	GCA		PASS	0.353	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		14	16	14	16	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	10014013	10014013	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:10014013A>G	ENST00000256190.8	-	12	1382	c.1245T>C	c.(1243-1245)ggT>ggC	p.G415G	SBF2_ENST00000527019.1_5'Flank	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	415	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G415G(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAAACAAAACCTGCAAATG	0.368																																						uc001mib.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1243-1245)GGT>GGC		SET binding factor 2							73.0	66.0	68.0					11																	10014013		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10014013A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1245T>C	11.37:g.10014013A>G						SBF2_uc001mif.3_Silent_p.G171G	p.G415G	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	12	1383	-			415			dDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.1245T>C	CCDS31427.1																																																																																				PASS	0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	26	7	26	---	---	---	---
LDLRAD3	143458	broad.mit.edu	37	11	36103249	36103249	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:36103249C>A	ENST00000315571.5	+	3	261	c.240C>A	c.(238-240)agC>agA	p.S80R	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.S31R|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.S31R	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	80	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S80R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTGTGCCAGCGGCATCCATT	0.522																																						uc001mwk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(238-240)AGC>AGA		low density lipoprotein receptor class A domain							163.0	132.0	143.0					11																	36103249		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36103249C>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.240C>A	11.37:g.36103249C>A	ENSP00000318607:p.Ser80Arg					LDLRAD3_uc010rey.1_Missense_Mutation_p.S31R|LDLRAD3_uc010rez.1_5'UTR	p.S80R	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			3	277	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	80			Extracellular (Potential).|LDL-receptor class A 2.		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.240C>A	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083901	0.76642	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000545142;ENST00000315571	D;D;D	0.95724	-3.79;-3.79;-3.79	5.95	1.94	0.25998	.	0.085645	0.85682	D	0.000000	D	0.96873	0.8979	M	0.88181	2.935	0.47547	D	0.999456	P;D	0.60160	0.82;0.987	P;P	0.57502	0.565;0.822	D	0.95969	0.8968	10	0.49607	T	0.09	.	10.9257	0.47189	0.0:0.6856:0.0:0.3144	.	31;80	B7Z1U3;Q86YD5	.;LRAD3_HUMAN	R	31;31;80;80	ENSP00000433954:S31R;ENSP00000434313:S31R;ENSP00000318607:S80R	ENSP00000318607:S80R	S	+	3	2	LDLRAD3	36059825	0.465000	0.25815	1.000000	0.80357	0.997000	0.91878	-0.246000	0.08878	0.824000	0.34613	0.650000	0.86243	AGC		PASS	0.522	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		4	160	4	160	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136214	40136214	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:40136214C>T	ENST00000278198.2	-	2	3592	c.1629G>A	c.(1627-1629)atG>atA	p.M543I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M543I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M543I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M543I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	543					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.M543I(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAATGACCAGCATCACTGCAG	0.443																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1627-1629)ATG>ATA		netrin-G1 ligand precursor							145.0	130.0	135.0					11																	40136214		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136214C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1629G>A	11.37:g.40136214C>T	ENSP00000278198:p.Met543Ile					LRRC4C_uc001mxc.1_Missense_Mutation_p.M539I|LRRC4C_uc001mxd.1_Missense_Mutation_p.M539I|LRRC4C_uc001mxb.1_Missense_Mutation_p.M539I	p.M543I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3593	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	543			Helical; (Potential).		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1629G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604767	0.46423	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.62723	1.935	0.80722	D	1	B	0.21688	0.059	B	0.25291	0.059	T	0.13548	-1.0505	10	0.33940	T	0.23	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	543	Q9HCJ2	LRC4C_HUMAN	I	543	ENSP00000278198:M543I;ENSP00000436976:M543I;ENSP00000437132:M543I;ENSP00000434761:M543I	ENSP00000278198:M543I	M	-	3	0	LRRC4C	40092790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	ATG		PASS	0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		17	48	17	48	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579641	55579641	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:55579641C>A	ENST00000333973.2	+	1	788	c.699C>A	c.(697-699)ggC>ggA	p.G233G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGCAGAGGGCAGGCACAAAG	0.507																																						uc001nhw.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(697-699)GGC>GGA		olfactory receptor, family 5, subfamily L,							188.0	154.0	166.0					11																	55579641		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579641C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.699C>A	11.37:g.55579641C>A							p.G233G	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	699	+		all_epithelial(135;0.208)	233			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.699C>A	CCDS31509.1																																																																																				PASS	0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		13	63	13	63	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170531	58170531	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:58170531A>T	ENST00000309403.2	-	1	351	c.352T>A	c.(352-354)Tat>Aat	p.Y118N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y118N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGCGGTCATAGGCCATTGAG	0.458																																						uc010rkf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)TAT>AAT		olfactory receptor, family 5, subfamily B,							132.0	118.0	123.0					11																	58170531		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170531A>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.352T>A	11.37:g.58170531A>T	ENSP00000308270:p.Tyr118Asn						p.Y118N	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	352	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	118			Helical; Name=3; (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.352T>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.955056	0.73902	.	.	ENSG00000172769	ENST00000309403	T	0.00490	7.03	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.339047	0.21554	N	0.072696	T	0.02610	0.0079	H	0.97440	4.005	0.40266	D	0.97823	D	0.89917	1.0	D	0.75484	0.986	T	0.02654	-1.1128	10	0.87932	D	0	-31.7251	12.069	0.53605	1.0:0.0:0.0:0.0	.	118	Q8NH48	OR5B3_HUMAN	N	118	ENSP00000308270:Y118N	ENSP00000308270:Y118N	Y	-	1	0	OR5B3	57927107	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.858000	0.92256	1.797000	0.52628	0.477000	0.44152	TAT		PASS	0.458	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		36	18	36	18	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190570	58190570	+	Silent	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:58190570G>T	ENST00000302581.2	-	1	216	c.165C>A	c.(163-165)acC>acA	p.T55T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T55T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTACATGGGGGTGTGGAGAC	0.507																																						uc010rkg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(163-165)ACC>ACA		olfactory receptor, family 5, subfamily B,							100.0	94.0	96.0					11																	58190570		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190570G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.165C>A	11.37:g.58190570G>T							p.T55T	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	165	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	55			Cytoplasmic (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.165C>A	CCDS31550.1																																																																																				PASS	0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		6	25	6	25	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288552	62288552	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:62288552T>G	ENST00000378024.4	-	5	13611	c.13337A>C	c.(13336-13338)aAa>aCa	p.K4446T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4446					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K4446T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCTTAAATTTGGGCCCCTT	0.448																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13336-13338)AAA>ACA		AHNAK nucleoprotein isoform 1							106.0	117.0	114.0					11																	62288552		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288552T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13337A>C	11.37:g.62288552T>G	ENSP00000367263:p.Lys4446Thr					AHNAK_uc001ntk.1_Intron	p.K4446T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13637	-		Melanoma(852;0.155)	4446					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13337A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422177	0.62622	.	.	ENSG00000124942	ENST00000378024	T	0.01705	4.68	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000007	T	0.13457	0.0326	M	0.92268	3.29	0.42954	D	0.994385	D	0.64830	0.994	D	0.73380	0.98	T	0.04140	-1.0974	10	0.37606	T	0.19	.	14.0486	0.64719	0.0:0.0:0.0:1.0	.	4446	Q09666	AHNK_HUMAN	T	4446	ENSP00000367263:K4446T	ENSP00000367263:K4446T	K	-	2	0	AHNAK	62045128	0.988000	0.35896	0.829000	0.32907	0.962000	0.63368	3.320000	0.51991	1.862000	0.54008	0.450000	0.29827	AAA		PASS	0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	339	8	339	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66454595	66454595	+	Missense_Mutation	SNP	C	C	A	rs112384228		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:66454595C>A	ENST00000533211.1	-	36	7097	c.6766G>T	c.(6766-6768)Ggc>Tgc	p.G2256C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.G2256C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.G2256C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2256	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.G2256C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGTAAAAGCCGAGGCTCCCA	0.667																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(6766-6768)GGC>TGC		spectrin, beta, non-erythrocytic 2							63.0	59.0	61.0					11																	66454595		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454595C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6766G>T	11.37:g.66454595C>A	ENSP00000432568:p.Gly2256Cys					SPTBN2_uc001ojc.1_Silent_p.S116S	p.G2256C	NM_006946	NP_008877	O15020	SPTN2_HUMAN			35	6838	-			2256			PH.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6766G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797663	0.90538	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.30182	1.54;1.54;1.54	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.209202	0.39759	N	0.001274	T	0.44685	0.1305	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08534	-1.0717	10	0.23302	T	0.38	.	17.8509	0.88747	0.0:1.0:0.0:0.0	.	2256	O15020	SPTN2_HUMAN	C	2256;2256;2256;800	ENSP00000432568:G2256C;ENSP00000311489:G2256C;ENSP00000433593:G2256C	ENSP00000311489:G2256C	G	-	1	0	SPTBN2	66211171	1.000000	0.71417	0.962000	0.40283	0.930000	0.56654	4.632000	0.61311	2.763000	0.94921	0.650000	0.86243	GGC		PASS	0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		6	398	6	398	---	---	---	---
FADD	8772	broad.mit.edu	37	11	70049646	70049646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:70049646C>A	ENST00000301838.4	+	1	378	c.81C>A	c.(79-81)tgC>tgA	p.C27*	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	27	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.C27*(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGTTCCTATGCCTCGGGCGCG	0.672																																						uc001opm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(79-81)TGC>TGA		Fas-associated via death domain																																				SO:0001587	stop_gained	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70049646C>A	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.81C>A	11.37:g.70049646C>A	ENSP00000301838:p.Cys27*						p.C27*	NM_003824	NP_003815	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		1	378	+	Esophageal squamous(2;1.19e-45)		27			DED.		Q14866|Q6IBR4	Nonsense_Mutation	SNP	ENST00000301838.4	37	c.81C>A	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	C	38	7.101432	0.98063	.	.	ENSG00000168040	ENST00000301838	.	.	.	4.39	4.39	0.52855	.	0.311989	0.34088	N	0.004272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4726	14.7887	0.69824	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000301838:C27X	C	+	3	2	FADD	69727294	0.985000	0.35326	0.909000	0.35828	0.525000	0.34531	1.481000	0.35476	2.158000	0.67659	0.491000	0.48974	TGC		PASS	0.672	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		24	90	24	90	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76207484	76207484	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:76207484A>C	ENST00000529032.1	+	8	1334	c.1334A>C	c.(1333-1335)aAa>aCa	p.K445T	C11orf30_ENST00000525038.1_Missense_Mutation_p.K460T|C11orf30_ENST00000343878.3_Missense_Mutation_p.K445T|C11orf30_ENST00000533248.1_Missense_Mutation_p.K459T|C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.K460T|C11orf30_ENST00000525919.1_Missense_Mutation_p.K446T|C11orf30_ENST00000334736.3_Missense_Mutation_p.K445T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	445	Gln-rich.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K445T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCTGGTATTAAACCTACCATC	0.413																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1333-1335)AAA>ACA		EMSY protein							113.0	110.0	111.0					11																	76207484		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76207484A>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1334A>C	11.37:g.76207484A>C	ENSP00000432327:p.Lys445Thr					C11orf30_uc009yuj.1_Missense_Mutation_p.K460T|C11orf30_uc010rsa.1_Missense_Mutation_p.K395T|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Missense_Mutation_p.K460T|C11orf30_uc010rsc.1_Missense_Mutation_p.K460T|C11orf30_uc001oxn.2_Missense_Mutation_p.K446T|C11orf30_uc010rsd.1_Missense_Mutation_p.K459T	p.K445T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			9	1477	+			445			Interaction with BRCA2.|Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1334A>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716398	0.68844	.	.	ENSG00000158636	ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.82	5.82	0.92795	.	0.147477	0.64402	D	0.000014	T	0.63988	0.2558	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.83275	0.987;0.987;0.987;0.996;0.996;0.991;0.991	T	0.58126	-0.7691	9	0.13470	T	0.59	-7.5421	16.19	0.81981	1.0:0.0:0.0:0.0	.	459;460;460;445;395;446;445	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	T	445;445;395;460;459;446;460;445	.	ENSP00000334130:K445T	K	+	2	0	C11orf30	75885132	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.158000	0.89649	2.225000	0.72522	0.460000	0.39030	AAA		PASS	0.413	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		33	121	33	121	---	---	---	---
DLAT	1737	broad.mit.edu	37	11	111915876	111915876	+	Silent	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:111915876T>A	ENST00000280346.6	+	9	1871	c.1212T>A	c.(1210-1212)gtT>gtA	p.V404V	DLAT_ENST00000537636.1_Silent_p.V175V|DLAT_ENST00000393051.1_Silent_p.V299V	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	404					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.V404V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CGGCAGCTGTTGTGCCTCCCA	0.478																																						uc001pmo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1210-1212)GTT>GTA		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						170.0	170.0	170.0					11																	111915876		2201	4297	6498	SO:0001819	synonymous_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111915876T>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1212T>A	11.37:g.111915876T>A						DLAT_uc009yyk.1_Silent_p.V299V|DLAT_uc010rwr.1_Silent_p.V277V	p.V404V	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	9	1871	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	404					Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	c.1212T>A	CCDS8354.1																																																																																				PASS	0.478	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		196	99	196	99	---	---	---	---
TEX12	56158	broad.mit.edu	37	11	112042610	112042610	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr11:112042610A>G	ENST00000280358.4	+	5	475	c.343A>G	c.(343-345)Aca>Gca	p.T115A	RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000525468.1_Intron|AP002884.3_ENST00000532612.1_Intron|TEX12_ENST00000530752.1_Missense_Mutation_p.T115A|SDHD_ENST00000532699.1_Intron	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12	115					meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.T115A(1)		endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGGTTTACAGTGATTGC	0.299																																						uc001pnc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)ACA>GCA		testis expressed sequence 12							72.0	79.0	77.0					11																	112042610		2200	4294	6494	SO:0001583	missense	56158							g.chr11:112042610A>G	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"""testis expressed sequence 12"""			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.343A>G	11.37:g.112042610A>G	ENSP00000280358:p.Thr115Ala					TEX12_uc001pnd.2_Missense_Mutation_p.T115A	p.T115A	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	5	475	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	115					A6NDL9|B0YIX3	Missense_Mutation	SNP	ENST00000280358.4	37	c.343A>G	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354264	0.24512	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.15	4.0	0.46444	.	0.113789	0.39687	N	0.001300	T	0.23649	0.0572	N	0.14661	0.345	0.25722	N	0.98536	B	0.18741	0.03	B	0.21917	0.037	T	0.14337	-1.0476	9	0.30078	T	0.28	-6.2056	7.0389	0.25008	0.6999:0.1531:0.0:0.1471	.	115	Q9BXU0	TEX12_HUMAN	A	115	.	ENSP00000280358:T115A	T	+	1	0	TEX12	111547820	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.166000	0.42406	0.943000	0.37553	0.482000	0.46254	ACA		PASS	0.299	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1			15	13	15	13	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	662639	662639	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:662639A>T	ENST00000266383.5	+	14	1563	c.1550A>T	c.(1549-1551)aAa>aTa	p.K517I		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	517					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.K517I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGGAAGCAAAAACCCAGCCCT	0.627																																						uc001qii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1549-1551)AAA>ATA		beta							43.0	48.0	46.0					12																	662639		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662639A>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1550A>T	12.37:g.662639A>T	ENSP00000266383:p.Lys517Ile					B4GALNT3_uc001qij.1_Missense_Mutation_p.K420I|B4GALNT3_uc001qik.1_Missense_Mutation_p.K66I	p.K517I	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1550	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		517			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1550A>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003734	0.35320	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.33654	3.44;1.4	5.68	-5.64	0.02466	.	1.516010	0.03047	N	0.154034	T	0.24005	0.0581	L	0.47716	1.5	0.09310	N	1	P;B	0.41265	0.744;0.257	B;B	0.31191	0.125;0.08	T	0.29822	-0.9999	10	0.37606	T	0.19	-5.2206	6.3173	0.21199	0.3405:0.3637:0.2958:0.0	.	420;517	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	I	517;420	ENSP00000266383:K517I;ENSP00000322953:K420I	ENSP00000266383:K517I	K	+	2	0	B4GALNT3	532900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.085000	0.14912	-1.361000	0.02169	-0.250000	0.11733	AAA		PASS	0.627	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		47	206	47	206	---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212693	8212693	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:8212693A>T	ENST00000307637.4	-	2	292	c.89T>A	c.(88-90)cTc>cAc	p.L30H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	30					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L30H(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGTAAGGCTGAGAATGACCAT	0.502																																						uc001qtv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)CTC>CAC		complement component 3a receptor 1							79.0	82.0	81.0					12																	8212693		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212693A>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.89T>A	12.37:g.8212693A>T	ENSP00000302079:p.Leu30His						p.L30H	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	181	-			30			Helical; Name=1; (Potential).		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.89T>A	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836939	0.50951	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.41400	1.0;1.0	5.67	5.67	0.87782	.	0.442058	0.20242	N	0.096262	T	0.51534	0.1680	L	0.34521	1.04	0.20873	N	0.999837	D	0.89917	1.0	D	0.68192	0.956	T	0.45585	-0.9251	10	0.34782	T	0.22	.	13.8672	0.63596	1.0:0.0:0.0:0.0	.	30	Q16581	C3AR_HUMAN	H	30	ENSP00000302079:L30H;ENSP00000444500:L30H	ENSP00000302079:L30H	L	-	2	0	C3AR1	8103960	1.000000	0.71417	0.918000	0.36340	0.657000	0.38888	3.757000	0.55212	2.159000	0.67721	0.397000	0.26171	CTC		PASS	0.502	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			96	57	96	57	---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53468891	53468891	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:53468891G>C	ENST00000301463.4	-	4	445	c.359C>G	c.(358-360)gCt>gGt	p.A120G	SPRYD3_ENST00000547837.1_Missense_Mutation_p.A157G	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	120	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.A120G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GCCATCATCAGCATGGTAGGC	0.542																																						uc001sbt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(358-360)GCT>GGT		SPRY domain containing 3							110.0	110.0	110.0					12																	53468891		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53468891G>C	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.359C>G	12.37:g.53468891G>C	ENSP00000301463:p.Ala120Gly					SPRYD3_uc010snw.1_5'UTR	p.A120G	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			4	380	-			120			B30.2/SPRY.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.359C>G	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003388	0.35320	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.15952	2.38;2.38	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	N	0.10972	0.075	0.80722	D	1	D	0.63046	0.992	D	0.65684	0.937	T	0.01720	-1.1288	10	0.02654	T	1	.	16.3707	0.83357	0.0:0.0:1.0:0.0	.	120	Q8NCJ5	SPRY3_HUMAN	G	120;157	ENSP00000301463:A120G;ENSP00000449452:A157G	ENSP00000301463:A120G	A	-	2	0	SPRYD3	51755158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.999000	0.76283	2.815000	0.96918	0.561000	0.74099	GCT		PASS	0.542	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		84	298	84	298	---	---	---	---
HNRNPA1	3178	broad.mit.edu	37	12	54677612	54677612	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:54677612T>C	ENST00000340913.6	+	9	977	c.924T>C	c.(922-924)ggT>ggC	p.G308G	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Splice_Site_p.G203G|HNRNPA1_ENST00000330752.8_Silent_p.G243G|HNRNPA1_ENST00000546500.1_Silent_p.G256G	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	308	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.G256G(1)|p.G308G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTTTGGAGGTGGTGGAAGCT	0.408																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2																			2	Substitution - coding silent(2)	p.S308S(1)	lung(2)	skin(2)|ovary(1)	3						c.(922-924)GGT>GGC		heterogeneous nuclear ribonucleoprotein A1							157.0	162.0	161.0					12																	54677612		2024	4196	6220	SO:0001819	synonymous_variant	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54677612T>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.924T>C	12.37:g.54677612T>C						HNRNPA1_uc001sfm.2_Silent_p.G256G|HNRNPA1_uc009zng.2_Silent_p.G256G|HNRNPA1_uc009znh.2_Silent_p.G256G|HNRNPA1_uc009zni.2_Silent_p.G243G|HNRNPA1_uc001sfn.2_Silent_p.G203G|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Silent_p.G211G	p.G308G	NM_031157	NP_112420	P09651	ROA1_HUMAN			9	1028	+			308			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Silent	SNP	ENST00000340913.6	37	c.924T>C	CCDS44909.1																																																																																				PASS	0.408	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		4	146	4	146	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57588854	57588854	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:57588854G>T	ENST00000243077.3	+	51	8744	c.8278G>T	c.(8278-8280)Ggg>Tgg	p.G2760W	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2760	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.G2760W(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGATGACTGTGGGGATGGCTC	0.622																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(8278-8280)GGG>TGG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98.0	111.0	106.0					12																	57588854		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588854G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8278G>T	12.37:g.57588854G>T	ENSP00000243077:p.Gly2760Trp						p.G2760W	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	51	8744	+			2760			Extracellular (Potential).|LDL-receptor class A 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8278G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791121	0.70452	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	4.93	4.93	0.64822	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98302	0.9437	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.72032	D	0.01	.	17.0771	0.86589	0.0:0.0:1.0:0.0	.	2760	Q07954	LRP1_HUMAN	W	2760	ENSP00000243077:G2760W	ENSP00000243077:G2760W	G	+	1	0	LRP1	55875121	1.000000	0.71417	0.959000	0.39883	0.881000	0.50899	7.790000	0.85794	2.551000	0.86045	0.455000	0.32223	GGG		PASS	0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		15	384	15	384	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59274487	59274487	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:59274487C>A	ENST00000320743.3	-	13	1963	c.1677G>T	c.(1675-1677)gtG>gtT	p.V559V	LRIG3_ENST00000379141.4_Silent_p.V499V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	559	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V559V(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TATACTCCATCACCTCGCCAC	0.478			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1675-1677)GTG>GTT		leucine-rich repeats and immunoglobulin-like							120.0	102.0	108.0					12																	59274487		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274487C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1677G>T	12.37:g.59274487C>A						LRIG3_uc009zqh.2_Silent_p.V499V|LRIG3_uc010ssh.1_RNA	p.V559V	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1923	-			559			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1677G>T	CCDS8960.1																																																																																				PASS	0.478	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		44	10	44	10	---	---	---	---
SETD8	387893	broad.mit.edu	37	12	123889485	123889485	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:123889485C>T	ENST00000402868.3	+	7	1138	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	SETD8_ENST00000330479.4_Missense_Mutation_p.R238W			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	279					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)	p.R238W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GCAGTTCTCCCGGGGTGACTT	0.547																																						uc001uew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CGG>TGG		SET domain-containing 8							109.0	93.0	99.0					12																	123889485		2203	4300	6503	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123889485C>T	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.712C>T	12.37:g.123889485C>T	ENSP00000384629:p.Arg238Trp					SETD8_uc001uex.2_Missense_Mutation_p.R173W	p.R238W	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	7	754	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		279			SET.		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.712C>T	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242574	0.79912	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.82167	-1.58;-1.58;-1.58	5.16	3.2	0.36748	SET domain (3);	0.177091	0.49916	D	0.000135	D	0.92512	0.7622	M	0.92507	3.315	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	D	0.94395	0.7617	10	0.87932	D	0	-21.6453	14.7837	0.69784	0.2592:0.7408:0.0:0.0	.	279;238	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	W	238;238;229	ENSP00000384629:R238W;ENSP00000332995:R238W;ENSP00000413811:R229W	ENSP00000332995:R238W	R	+	1	2	SETD8	122455438	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	0.840000	0.27600	1.287000	0.44583	0.655000	0.94253	CGG		PASS	0.547	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		50	181	50	181	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132551417	132551417	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:132551417C>T	ENST00000333577.4	+	50	8869	c.8760C>T	c.(8758-8760)tcC>tcT	p.S2920S	EP400_ENST00000389561.2_Silent_p.S2884S|EP400_ENST00000389562.2_Silent_p.S2883S|EP400_ENST00000330386.6_Silent_p.S2803S|EP400_ENST00000332482.4_Silent_p.S2847S			Q96L91	EP400_HUMAN	E1A binding protein p400	2920					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S2883S(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGGTGGTGTCCGTCCCGGCAG	0.677																																						uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8650-8652)TCC>TCT		E1A binding protein p400							37.0	39.0	38.0					12																	132551417		2203	4299	6502	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551417C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8760C>T	12.37:g.132551417C>T						EP400_uc001ujl.2_Silent_p.S2883S|EP400_uc001ujm.2_Silent_p.S2803S|EP400_uc001ujp.2_Silent_p.S94S	p.S2884S	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8687	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2920					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8652C>T																																																																																					PASS	0.677	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		52	144	52	144	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133350776	133350776	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr12:133350776A>G	ENST00000450791.2	-	22	4457	c.4274T>C	c.(4273-4275)cTc>cCc	p.L1425P	GOLGA3_ENST00000204726.3_Missense_Mutation_p.L1425P			Q08378	GOGA3_HUMAN	golgin A3	1425					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L1425P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGTTCTTGAGGGGCTCCTT	0.602																																						uc001ukz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4273-4275)CTC>CCC		Golgi autoantigen, golgin subfamily a, 3							59.0	57.0	57.0					12																	133350776		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133350776A>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4274T>C	12.37:g.133350776A>G	ENSP00000410378:p.Leu1425Pro						p.L1425P	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	23	4833	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1425			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4274T>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711846	0.89112	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.44083	0.93;0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59337	-0.7473	10	0.87932	D	0	.	15.7517	0.77992	1.0:0.0:0.0:0.0	.	1425	Q08378	GOGA3_HUMAN	P	1425	ENSP00000204726:L1425P;ENSP00000410378:L1425P	ENSP00000204726:L1425P	L	-	2	0	GOLGA3	131860849	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	8.598000	0.90852	2.131000	0.65755	0.533000	0.62120	CTC		PASS	0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	168	4	168	---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	21063632	21063632	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:21063632C>A	ENST00000298248.7	-	3	215	c.153G>T	c.(151-153)aaG>aaT	p.K51N	CRYL1_ENST00000480748.1_5'Flank|CRYL1_ENST00000382812.1_Missense_Mutation_p.K29N	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	51					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.K51N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		ACTTCATCTCCTTTCTGGAAA	0.468											OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001une.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)AAG>AAT		lambda-crystallin							71.0	73.0	72.0					13																	21063632		1931	4134	6065	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21063632C>A	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.153G>T	13.37:g.21063632C>A	ENSP00000298248:p.Lys51Asn		OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745	CRYL1_uc001unf.2_Missense_Mutation_p.K29N|CRYL1_uc001ung.2_Missense_Mutation_p.K29N	p.K51N	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	3	232	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	51					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.153G>T	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	4.217	0.039055	0.08148	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.77358	-1.09;-1.09	5.6	2.17	0.27698	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.094644	0.64402	D	0.000001	T	0.59004	0.2162	N	0.13003	0.285	0.80722	D	1	B	0.33135	0.399	B	0.38954	0.286	T	0.43278	-0.9401	10	0.18710	T	0.47	-26.9642	5.8069	0.18444	0.0:0.5231:0.0:0.4769	.	51	Q9Y2S2	CRYL1_HUMAN	N	51;29	ENSP00000298248:K51N;ENSP00000372262:K29N	ENSP00000298248:K51N	K	-	3	2	CRYL1	19961632	1.000000	0.71417	0.629000	0.29254	0.017000	0.09413	0.488000	0.22371	0.594000	0.29761	0.561000	0.74099	AAG		PASS	0.468	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		4	47	4	47	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912373	23912373	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:23912373C>G	ENST00000382292.3	-	9	5915	c.5642G>C	c.(5641-5643)gGc>gCc	p.G1881A	SACS_ENST00000382298.3_Missense_Mutation_p.G1881A|SACS_ENST00000402364.1_Missense_Mutation_p.G1131A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1881					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G1881A(1)|p.G1734A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGGCAAGCCTGTTTTTAT	0.413																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(5641-5643)GGC>GCC		sacsin							109.0	106.0	107.0					13																	23912373		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912373C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5642G>C	13.37:g.23912373C>G	ENSP00000371729:p.Gly1881Ala					SACS_uc001uoo.2_Missense_Mutation_p.G1734A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G1881A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6231	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1881					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5642G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	32	5.138486	0.94560	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90955	-2.41;-2.76;-2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	M	0.75264	2.295	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.95316	0.8416	10	0.72032	D	0.01	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	1881	Q9NZJ4	SACS_HUMAN	A	1881;1131;1881	ENSP00000371729:G1881A;ENSP00000385844:G1131A;ENSP00000371735:G1881A	ENSP00000371729:G1881A	G	-	2	0	SACS	22810373	1.000000	0.71417	0.969000	0.41365	0.989000	0.77384	7.487000	0.81328	2.644000	0.89710	0.491000	0.48974	GGC		PASS	0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	16	7	16	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25416262	25416262	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:25416262C>A	ENST00000255324.5	+	19	2618	c.2566C>A	c.(2566-2568)Cag>Aag	p.Q856K	RNF17_ENST00000381921.1_Missense_Mutation_p.Q856K|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	856					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q856K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATTAATGACCAGCTAGTTAA	0.338																																						uc001upr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2566-2568)CAG>AAG		ring finger protein 17							147.0	138.0	141.0					13																	25416262		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416262C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2566C>A	13.37:g.25416262C>A	ENSP00000255324:p.Gln856Lys					RNF17_uc010tdd.1_Missense_Mutation_p.Q715K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q856K|RNF17_uc001ups.2_Missense_Mutation_p.Q795K|RNF17_uc010aac.2_Missense_Mutation_p.Q54K|RNF17_uc010aad.2_5'Flank	p.Q856K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2607	+		Lung SC(185;0.0225)|Breast(139;0.077)	856					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2566C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059403	0.55325	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.29917	1.55;1.55;1.55	5.1	4.2	0.49525	Staphylococcal nuclease (SNase-like) (1);	0.092824	0.46442	D	0.000298	T	0.28797	0.0714	L	0.32530	0.975	0.80722	D	1	D;P;D	0.63880	0.993;0.936;0.964	P;P;P	0.52957	0.714;0.632;0.53	T	0.02301	-1.1180	10	0.06236	T	0.91	-8.9164	12.6056	0.56521	0.0:0.8328:0.1672:0.0	.	856;856;856	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	K	856;856;715;180	ENSP00000255324:Q856K;ENSP00000371346:Q856K;ENSP00000388892:Q180K	ENSP00000255324:Q856K	Q	+	1	0	RNF17	24314262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.141000	0.42168	2.536000	0.85505	0.585000	0.79938	CAG		PASS	0.338	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		3	24	3	24	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32332513	32332513	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:32332513T>C	ENST00000298386.2	+	2	284	c.213T>C	c.(211-213)tgT>tgC	p.C71C	RXFP2_ENST00000380314.1_Silent_p.C71C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	71	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.C71C(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGGATGACTGTGGGAACGGGG	0.517																																						uc001utt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)TGT>TGC		relaxin/insulin-like family peptide receptor 2							135.0	130.0	132.0					13																	32332513		2203	4300	6503	SO:0001819	synonymous_variant	122042					integral to membrane|plasma membrane		g.chr13:32332513T>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.213T>C	13.37:g.32332513T>C						RXFP2_uc010aba.2_Silent_p.C54C	p.C71C	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	2	284	+		Lung SC(185;0.0262)	71			Extracellular (Potential).|LDL-receptor class A.		B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	c.213T>C	CCDS9342.1																																																																																				PASS	0.517	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		7	129	7	129	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35864535	35864535	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:35864535G>T	ENST00000400445.3	+	35	6320	c.5786G>T	c.(5785-5787)tGt>tTt	p.C1929F	NBEA_ENST00000540320.1_Missense_Mutation_p.C1929F|NBEA_ENST00000379939.2_Missense_Mutation_p.C1926F|NBEA_ENST00000310336.4_Missense_Mutation_p.C1929F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1929					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.C1929F(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGCCTTGTTTGTATGAAGTCC	0.303																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(5785-5787)TGT>TTT		neurobeachin							278.0	262.0	267.0					13																	35864535		1844	4095	5939	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35864535G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5786G>T	13.37:g.35864535G>T	ENSP00000383295:p.Cys1929Phe					NBEA_uc010abi.2_Missense_Mutation_p.C585F	p.C1929F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	35	5992	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1929					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5786G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147716	0.57151	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	L	0.58101	1.795	0.80722	D	1	B;B	0.31837	0.342;0.27	B;B	0.40659	0.204;0.336	T	0.45469	-0.9259	10	0.31617	T	0.26	.	11.6327	0.51185	0.0827:0.0:0.9173:0.0	.	1929;1926	Q8NFP9;Q5T321	NBEA_HUMAN;.	F	1929;1929;1926;1929;556	ENSP00000440951:C1929F;ENSP00000383295:C1929F;ENSP00000369271:C1926F;ENSP00000308534:C1929F	ENSP00000308534:C1929F	C	+	2	0	NBEA	34762535	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	6.833000	0.75334	2.341000	0.79615	0.460000	0.39030	TGT		PASS	0.303	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		24	36	24	36	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39454823	39454823	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:39454823G>C	ENST00000280481.7	+	24	9625	c.9409G>C	c.(9409-9411)Ggc>Cgc	p.G3137R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3137					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G3137R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGTGCAGGGGCAAGGAAAG	0.587																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(9409-9411)GGC>CGC		FRAS1-related extracellular matrix protein 2							59.0	58.0	59.0					13																	39454823		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39454823G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9409G>C	13.37:g.39454823G>C	ENSP00000280481:p.Gly3137Arg						p.G3137R	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	24	9718	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	3137			Cytoplasmic (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.9409G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079980	0.08533	.	.	ENSG00000150893	ENST00000280481	T	0.17054	2.3	5.8	0.44	0.16572	.	0.686762	0.15988	N	0.234948	T	0.03390	0.0098	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	10	0.12103	T	0.63	.	1.9022	0.03270	0.3373:0.3042:0.2515:0.107	.	3137	Q5SZK8	FREM2_HUMAN	R	3137	ENSP00000280481:G3137R	ENSP00000280481:G3137R	G	+	1	0	FREM2	38352823	0.028000	0.19301	0.001000	0.08648	0.022000	0.10575	0.983000	0.29552	0.125000	0.18397	-0.471000	0.05019	GGC		PASS	0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		9	1	9	1	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549561	46549561	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:46549561T>C	ENST00000242848.4	-	12	2673	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	ZC3H13_ENST00000282007.3_Silent_p.E775E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	775	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E775E(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctcgctctttctcgttccc	0.512																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(2323-2325)GAA>GAG		zinc finger CCCH-type containing 13							363.0	284.0	311.0					13																	46549561		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549561T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2325A>G	13.37:g.46549561T>C						ZC3H13_uc001vas.1_Silent_p.E775E|ZC3H13_uc001vat.1_Silent_p.E775E	p.E775E	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2331	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	775			Arg/Glu-rich.|Potential.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2325A>G																																																																																					PASS	0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	107	4	107	---	---	---	---
KIAA0226L	80183	broad.mit.edu	37	13	46935598	46935598	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:46935598G>T	ENST00000429979.1	-	8	1701	c.1097C>A	c.(1096-1098)tCc>tAc	p.S366Y	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S209Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S366Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S231Y|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S299Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S209Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S366Y|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S366Y	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	366								p.S366Y(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGCACTCAGGGAACCTGCCAG	0.428																																						uc010acl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)TCC>TAC		hypothetical protein LOC80183							76.0	69.0	71.0					13																	46935598		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46935598G>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1097C>A	13.37:g.46935598G>T	ENSP00000396935:p.Ser366Tyr					C13orf18_uc001vbf.3_Missense_Mutation_p.S299Y|C13orf18_uc001vbg.3_Missense_Mutation_p.S94Y|C13orf18_uc010tfz.1_Missense_Mutation_p.S209Y|C13orf18_uc010acm.2_Missense_Mutation_p.S231Y|C13orf18_uc010acn.2_Missense_Mutation_p.S151Y|C13orf18_uc001vbe.3_Missense_Mutation_p.S366Y|C13orf18_uc001vbh.3_Missense_Mutation_p.S366Y|C13orf18_uc001vbi.3_Missense_Mutation_p.S209Y|C13orf18_uc010aco.1_Missense_Mutation_p.S366Y	p.S366Y	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	8	1702	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	366					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1097C>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689859	0.29962	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.51574	0.72;0.7;0.73;0.72;0.7;0.77	5.38	4.53	0.55603	.	0.655494	0.15624	N	0.252738	T	0.61035	0.2315	M	0.68952	2.095	0.19300	N	0.999979	D;D;D;D;D;D	0.71674	0.976;0.976;0.976;0.976;0.986;0.998	P;P;P;P;P;D	0.65443	0.556;0.656;0.656;0.656;0.858;0.935	T	0.50857	-0.8778	10	0.36615	T	0.2	-8.7	8.1984	0.31411	0.0863:0.1703:0.7434:0.0	.	209;209;366;231;299;366	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	Y	366;366;299;366;366;209;209;231	ENSP00000396935:S366Y;ENSP00000368074:S366Y;ENSP00000368061:S299Y;ENSP00000374558:S366Y;ENSP00000368064:S366Y;ENSP00000437501:S231Y	ENSP00000315633:S209Y	S	-	2	0	KIAA0226L	45833599	0.537000	0.26386	0.002000	0.10522	0.249000	0.25844	2.530000	0.45641	1.395000	0.46643	0.643000	0.83706	TCC		PASS	0.428	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		16	4	16	4	---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49710673	49710673	+	Silent	SNP	A	A	G	rs141169070	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:49710673A>G	ENST00000492622.2	+	6	1001	c.696A>G	c.(694-696)acA>acG	p.T232T	FNDC3A_ENST00000541916.1_Silent_p.T232T|FNDC3A_ENST00000398316.3_Silent_p.T176T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	232					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.T232T(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTATAAACACAGGATCAGCAA	0.393													A|||	3	0.000599042	0.0	0.0	5008	,	,		16869	0.0		0.003	False		,,,				2504	0.0					uc001vcm.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(694-696)ACA>ACG		fibronectin type III domain containing 3A		A	,	1,4405	2.1+/-5.4	0,1,2202	136.0	129.0	131.0		696,528	1.8	0.4	13	dbSNP_134	131	11,8589	8.4+/-32.0	0,11,4289	yes	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,12,6491	GG,GA,AA		0.1279,0.0227,0.0923	,	232/1199,176/1143	49710673	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49710673A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.696A>G	13.37:g.49710673A>G						FNDC3A_uc001vcl.1_Silent_p.T232T|FNDC3A_uc001vcn.2_Silent_p.T232T|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Silent_p.T176T|FNDC3A_uc001vcq.2_Silent_p.T176T	p.T232T	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	6	1001	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	232					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.696A>G	CCDS41886.1																																																																																				PASS	0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		13	25	13	25	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51963577	51963577	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:51963577C>T	ENST00000311234.4	-	6	1089	c.617G>A	c.(616-618)cGt>cAt	p.R206H	INTS6_ENST00000463928.1_Missense_Mutation_p.R206H|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.R28H|INTS6_ENST00000420668.2_Missense_Mutation_p.V145I|INTS6_ENST00000398119.2_Missense_Mutation_p.R193H	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	206	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.R206H(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGAATATGAACGGCCTGAGAT	0.363																																						uc001vfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(616-618)CGT>CAT		integrator complex subunit 6 isoform a							103.0	104.0	104.0					13																	51963577		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51963577C>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.617G>A	13.37:g.51963577C>T	ENSP00000310260:p.Arg206His					INTS6_uc001vfj.2_Missense_Mutation_p.R193H|INTS6_uc001vfl.2_Missense_Mutation_p.R28H	p.R206H	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	6	1231	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	206			VWFA.		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.617G>A	CCDS9428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016826|4.016826	0.75161|0.75161	.|.	.|.	ENSG00000102786|ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989|ENST00000420668	T|.	0.15256|.	2.44|.	5.27|5.27	5.27|5.27	0.74061|0.74061	von Willebrand factor, type A (1);|.	0.050029|.	0.85682|.	D|.	0.000000|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P|.	0.39940|.	0.696|.	B|.	0.40940|.	0.344|.	T|T	0.69917|0.69917	-0.5015|-0.5015	10|6	0.72032|0.11794	D|T	0.01|0.64	-3.2265|-3.2265	18.2182|18.2182	0.89893|0.89893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	206|.	Q9UL03|.	INT6_HUMAN|.	H|I	206;193;28|145	ENSP00000310260:R206H|.	ENSP00000310260:R206H|ENSP00000388585:V145I	R|V	-|-	2|1	0|0	INTS6|INTS6	50861578|50861578	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.783000|0.783000	0.44284|0.44284	7.737000|7.737000	0.84957|0.84957	2.617000|2.617000	0.88574|0.88574	0.514000|0.514000	0.50259|0.50259	CGT|GTT		PASS	0.363	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		9	23	9	23	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95131312	95131312	+	Silent	SNP	G	G	A	rs375795787		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:95131312G>A	ENST00000377028.5	-	1	611	c.198C>T	c.(196-198)gcC>gcT	p.A66A	DCT_ENST00000446125.1_Silent_p.A66A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	66					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.A66A(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCCTTGTGTCGGCTCGCACCT	0.602																																						uc001vlv.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(196-198)GCC>GCT		dopachrome tautomerase isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	83.0	72.0	76.0		198,198	-10.4	0.0	13		76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DCT	NM_001129889.1,NM_001922.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	66/553,66/520	95131312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131312G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.198C>T	13.37:g.95131312G>A						DCT_uc010afh.2_Silent_p.A66A	p.A66A	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	625	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	66			Lumenal, melanosome (Potential).		Q09GT4	Silent	SNP	ENST00000377028.5	37	c.198C>T	CCDS9470.1																																																																																				PASS	0.602	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			31	69	31	69	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96675911	96675911	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:96675911T>A	ENST00000376747.3	-	3	414	c.344A>T	c.(343-345)tAc>tTc	p.Y115F	UGGT2_ENST00000376712.4_Missense_Mutation_p.Y115F|UGGT2_ENST00000397618.3_Missense_Mutation_p.Y115F|UGGT2_ENST00000376714.3_Missense_Mutation_p.Y115F	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	115					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.Y115F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGCTGGGGAGTATGCCCTTAT	0.358																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(343-345)TAC>TTC		UDP-glucose ceramide glucosyltransferase-like 2							90.0	91.0	90.0					13																	96675911		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675911T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.344A>T	13.37:g.96675911T>A	ENSP00000365938:p.Tyr115Phe					UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.Y115F|UGGT2_uc010afp.2_Missense_Mutation_p.Y115F	p.Y115F	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			3	514	-			115					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.344A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074239	0.76415	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.34472	2.98;1.36	5.58	5.58	0.84498	.	0.058989	0.64402	D	0.000001	T	0.58977	0.2160	M	0.70842	2.15	0.58432	D	0.999998	D;D;B	0.69078	0.997;0.997;0.132	D;D;B	0.67231	0.95;0.95;0.081	T	0.63449	-0.6635	10	0.87932	D	0	-5.0732	15.7423	0.77910	0.0:0.0:0.0:1.0	.	115;115;115	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	F	115	ENSP00000365938:Y115F;ENSP00000380743:Y115F	ENSP00000365902:Y115F	Y	-	2	0	UGGT2	95473912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.288000	0.78691	2.107000	0.64212	0.528000	0.53228	TAC		PASS	0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		16	12	16	12	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101714326	101714326	+	Silent	SNP	G	G	T	rs200606017		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:101714326G>T	ENST00000251127.6	-	41	4830	c.4749C>A	c.(4747-4749)atC>atA	p.I1583I	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1583					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I1583I(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCACAGCTCTGATGCGCTTCA	0.597																																						uc001vox.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4747-4749)ATC>ATA		voltage gated channel like 1							116.0	82.0	94.0					13																	101714326		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714326G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4749C>A	13.37:g.101714326G>T							p.I1583I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			41	4938	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1583			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.4749C>A	CCDS9498.1																																																																																				PASS	0.597	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		60	15	60	15	---	---	---	---
SOX1	6656	broad.mit.edu	37	13	112721993	112721993	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr13:112721993G>C	ENST00000330949.1	+	1	81	c.21G>C	c.(19-21)gaG>gaC	p.E7D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	7					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E7D(1)		lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGATGATGGAGACCGACCTGC	0.781																																						uc001vsb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)GAG>GAC		SRY (sex determining region Y)-box 1							8.0	11.0	10.0					13																	112721993		2022	4121	6143	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112721993G>C		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.21G>C	13.37:g.112721993G>C	ENSP00000330218:p.Glu7Asp						p.E7D	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	81	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	7					Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.21G>C	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	-	19.26	3.792823	0.70452	.	.	ENSG00000182968	ENST00000330949	D	0.97598	-4.45	3.66	2.69	0.31865	.	0.000000	0.64402	U	0.000001	D	0.96078	0.8722	L	0.27053	0.805	0.35322	D	0.78486	D	0.58970	0.984	D	0.65443	0.935	D	0.96541	0.9400	10	0.48119	T	0.1	.	11.2771	0.49174	0.1118:0.0:0.8882:0.0	.	7	O00570	SOX1_HUMAN	D	7	ENSP00000330218:E7D	ENSP00000330218:E7D	E	+	3	2	SOX1	111769994	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.592000	0.23984	1.900000	0.55004	0.450000	0.29827	GAG		PASS	0.781	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		12	27	12	27	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19377713	19377713	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:19377713C>A	ENST00000550708.1	+	1	192	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I40I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAATTCAGATCTTCCTCTTCT	0.428																																						uc010tkp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(118-120)ATC>ATA		olfactory receptor, family 11, subfamily H,							61.0	63.0	62.0					14																	19377713		2199	4295	6494	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377713C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.120C>A	14.37:g.19377713C>A							p.I40I	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	120	+	all_cancers(95;0.00108)		40			Extracellular (Potential).			Silent	SNP	ENST00000550708.1	37	c.120C>A	CCDS32017.1																																																																																				PASS	0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		12	19	12	19	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991967	21991967	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:21991967T>A	ENST00000327430.3	-	2	2189	c.1895A>T	c.(1894-1896)cAg>cTg	p.Q632L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.Q495L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q632L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GATGACACACTGGTTAGGTCC	0.587																																						uc001wbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1894-1896)CAG>CTG		sal-like 2							60.0	59.0	59.0					14																	21991967		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991967T>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1895A>T	14.37:g.21991967T>A	ENSP00000333537:p.Gln632Leu					SALL2_uc010tly.1_Missense_Mutation_p.Q630L|SALL2_uc010tlz.1_Missense_Mutation_p.Q495L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.Q497L|SALL2_uc001wbg.1_Intron	p.Q632L	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2177	-	all_cancers(95;0.000662)		632			C2H2-type 3.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1895A>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.52|19.52	3.842221|3.842221	0.71488|0.71488	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.27557|.	1.66;1.66|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.000000|.	0.37178|.	N|.	0.002220|.	T|T	0.36358|0.36358	0.0964|0.0964	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.982|.	P;P;P|.	0.60682|.	0.878;0.878;0.702|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.87932|.	D|.	0|.	-27.1164|-27.1164	12.2777|12.2777	0.54747|0.54747	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;495;632|.	B4DK65;E7EW59;Q9Y467|.	.;.;SALL2_HUMAN|.	L|C	632;495|491	ENSP00000333537:Q632L;ENSP00000396773:Q495L|.	ENSP00000333537:Q632L|.	Q|S	-|-	2|1	0|0	SALL2|SALL2	21061807|21061807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.868000|7.868000	0.87116|0.87116	1.997000|1.997000	0.58415|0.58415	0.460000|0.460000	0.39030|0.39030	CAG|AGT		PASS	0.587	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		60	249	60	249	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992791	21992791	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:21992791C>T	ENST00000327430.3	-	2	1365	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.L220L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L357L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCCGTAGCTCAGCTCACCAC	0.592																																						uc001wbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1069-1071)CTG>CTA		sal-like 2							58.0	55.0	56.0					14																	21992791		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992791C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1071G>A	14.37:g.21992791C>T						SALL2_uc010tly.1_Silent_p.L355L|SALL2_uc010tlz.1_Silent_p.L220L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.L222L|SALL2_uc001wbg.1_Intron	p.L357L	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1353	-	all_cancers(95;0.000662)		357					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.1071G>A	CCDS32045.1																																																																																				PASS	0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		86	145	86	145	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45667984	45667984	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:45667984G>A	ENST00000267430.5	+	22	5939	c.5854G>A	c.(5854-5856)Gaa>Aaa	p.E1952K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1926K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1952	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E1952K(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTCTTTAGTGGAACAAAGAAA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(5854-5856)GAA>AAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							88.0	89.0	88.0					14																	45667984		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45667984G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5854G>A	14.37:g.45667984G>A	ENSP00000267430:p.Glu1952Lys					FANCM_uc010anf.2_Missense_Mutation_p.E1926K|FANCM_uc001wwe.3_Missense_Mutation_p.E1488K|FANCM_uc010ang.2_Missense_Mutation_p.E1201K	p.E1952K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			22	5953	+			1952			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5854G>A	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.985058|4.985058	0.93044|0.93044	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250;ENST00000555484|ENST00000554809	T;T;T|.	0.27557|.	2.37;2.34;1.66|.	5.71|5.71	5.71|5.71	0.89125|0.89125	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78464|0.78464	0.4287|0.4287	M|M	0.77820|0.77820	2.39|2.39	0.46927|0.46927	D|D	0.999259|0.999259	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.994;0.986|.	T|T	0.77686|0.77686	-0.2495|-0.2495	10|5	0.87932|.	D|.	0|.	.|.	19.4554|19.4554	0.94886|0.94886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1926;1952|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	K|E	1952;1926;1468;78|919	ENSP00000267430:E1952K;ENSP00000442493:E1926K;ENSP00000452033:E1468K|.	ENSP00000267430:E1952K|.	E|G	+|+	1|2	0|0	FANCM|FANCM	44737734|44737734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.616000|6.616000	0.74205|0.74205	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.378	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		12	30	12	30	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52526917	52526917	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:52526917T>C	ENST00000216286.5	-	3	691	c.692A>G	c.(691-693)gAg>gGg	p.E231G	NID2_ENST00000541773.1_Missense_Mutation_p.E178G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	231	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.E231G(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCATCAGCCTCCCCTCGGCA	0.502																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(691-693)GAG>GGG		nidogen 2 precursor							56.0	55.0	56.0					14																	52526917		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52526917T>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.692A>G	14.37:g.52526917T>C	ENSP00000216286:p.Glu231Gly					NID2_uc010tqs.1_Missense_Mutation_p.E231G|NID2_uc010tqt.1_Missense_Mutation_p.E231G|NID2_uc001wzp.2_Missense_Mutation_p.E231G	p.E231G	NM_007361	NP_031387	Q14112	NID2_HUMAN			3	926	-	Breast(41;0.0639)|all_epithelial(31;0.123)		231			NIDO.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.692A>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088756	0.76756	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.72942	-0.7;-0.7	5.58	5.58	0.84498	Nidogen, extracellular domain (3);	0.098664	0.64402	D	0.000002	T	0.77219	0.4098	L	0.43152	1.355	0.40291	D	0.978506	D;D;B	0.89917	1.0;1.0;0.028	D;D;B	0.80764	0.994;0.99;0.014	T	0.73694	-0.3902	10	0.20519	T	0.43	.	14.2898	0.66270	0.0:0.0:0.0:1.0	.	178;233;231	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	G	231;178;233	ENSP00000216286:E231G;ENSP00000443730:E178G	ENSP00000216286:E231G	E	-	2	0	NID2	51596667	1.000000	0.71417	0.954000	0.39281	0.958000	0.62258	4.161000	0.58170	2.262000	0.75019	0.528000	0.53228	GAG		PASS	0.502	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			7	23	7	23	---	---	---	---
SGPP1	81537	broad.mit.edu	37	14	64194007	64194007	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:64194007A>G	ENST00000247225.6	-	1	750	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	219					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.M219T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAGGAGGACCATAGAAATGGG	0.582																																						uc001xgj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(655-657)ATG>ACG		sphingosine-1-phosphate phosphatase 1							63.0	58.0	60.0					14																	64194007		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64194007A>G	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.656T>C	14.37:g.64194007A>G	ENSP00000247225:p.Met219Thr						p.M219T	NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	1	750	-			219			Helical; (Potential).		B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.656T>C	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339952	0.60963	.	.	ENSG00000126821	ENST00000247225	T	0.21932	1.98	4.81	4.81	0.61882	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.122641	0.56097	D	0.000022	T	0.19127	0.0459	L	0.36672	1.1	0.32425	N	0.548782	P	0.35700	0.516	B	0.35278	0.199	T	0.20907	-1.0261	10	0.52906	T	0.07	-15.8948	14.3634	0.66789	1.0:0.0:0.0:0.0	.	219	Q9BX95	SGPP1_HUMAN	T	219	ENSP00000247225:M219T	ENSP00000247225:M219T	M	-	2	0	SGPP1	63263760	0.999000	0.42202	0.485000	0.27403	0.989000	0.77384	7.370000	0.79589	1.799000	0.52666	0.459000	0.35465	ATG		PASS	0.582	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		112	124	112	124	---	---	---	---
VSX2	338917	broad.mit.edu	37	14	74711940	74711940	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:74711940T>C	ENST00000261980.2	+	3	618	c.528T>C	c.(526-528)taT>taC	p.Y176Y		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	176					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Y176Y(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CAGACGTCTATGCCCGGGAGA	0.582																																						uc001xpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(526-528)TAT>TAC		visual system homeobox 2							84.0	69.0	74.0					14																	74711940		2203	4300	6503	SO:0001819	synonymous_variant	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74711940T>C	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.528T>C	14.37:g.74711940T>C							p.Y176Y	NM_182894	NP_878314	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	3	618	+			176			Homeobox.		A1A4X6	Silent	SNP	ENST00000261980.2	37	c.528T>C	CCDS9827.1																																																																																				PASS	0.582	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		65	75	65	75	---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670326	81670326	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:81670326G>A	ENST00000553612.1	-	3	658	c.255C>T	c.(253-255)caC>caT	p.H85H	SNORA79_ENST00000408376.1_RNA|GTF2A1_ENST00000434192.2_Silent_p.H46H	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	85	Poly-His.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.H85H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		gctgatgatggtgatggtggt	0.517																																						uc001xvf.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(253-255)CAC>CAT		TFIIA alpha, p55 isoform 1							156.0	99.0	118.0					14																	81670326		2203	4300	6503	SO:0001819	synonymous_variant	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81670326G>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.255C>T	14.37:g.81670326G>A						GTF2A1_uc010atb.1_Silent_p.H35H|GTF2A1_uc001xvg.1_Silent_p.H46H|GTF2A1_uc001xvh.1_Silent_p.H46H|SNORA79_uc001xvi.1_5'Flank	p.H85H	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	3	687	-			85			Poly-His.		Q3KNQ9	Silent	SNP	ENST00000553612.1	37	c.255C>T	CCDS9873.1																																																																																				PASS	0.517	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		3	18	3	18	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100803472	100803472	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr14:100803472C>T	ENST00000355338.2	-	10	1799	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	WARS_ENST00000557135.1_Missense_Mutation_p.C394Y|WARS_ENST00000358655.4_Missense_Mutation_p.C353Y|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000344102.5_Missense_Mutation_p.C353Y|WARS_ENST00000392882.2_Missense_Mutation_p.C394Y|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.C353Y	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	394					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.C394Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTCCACATCACAGTTGCCCCC	0.557																																						uc001yhf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1180-1182)TGT>TAT		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						303.0	255.0	271.0					14																	100803472		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100803472C>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1181G>A	14.37:g.100803472C>T	ENSP00000347495:p.Cys394Tyr					WARS_uc001yhe.1_Missense_Mutation_p.C200Y|WARS_uc001yhg.1_Missense_Mutation_p.C394Y|WARS_uc001yhh.1_Missense_Mutation_p.C394Y|WARS_uc001yhi.1_Missense_Mutation_p.C353Y|WARS_uc001yhj.1_Missense_Mutation_p.C353Y|WARS_uc001yhk.1_Missense_Mutation_p.C353Y|WARS_uc001yhl.1_Missense_Mutation_p.C394Y	p.C394Y	NM_173701	NP_776049	P23381	SYWC_HUMAN			9	1265	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	394					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1181G>A	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701611	0.88924	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.67	5.67	0.87782	.	0.194402	0.64402	D	0.000018	T	0.69070	0.3070	M	0.80422	2.495	0.54753	D	0.999989	P	0.51653	0.947	P	0.58077	0.832	T	0.71381	-0.4610	10	0.66056	D	0.02	-6.052	20.1169	0.97940	0.0:1.0:0.0:0.0	.	394	P23381	SYWC_HUMAN	Y	394;353;394;353;394;353	ENSP00000376620:C394Y;ENSP00000351481:C353Y;ENSP00000347495:C394Y;ENSP00000339485:C353Y;ENSP00000451460:C394Y;ENSP00000451887:C353Y	ENSP00000339485:C353Y	C	-	2	0	WARS	99873225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.417000	0.59822	2.835000	0.97688	0.591000	0.81541	TGT		PASS	0.557	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		191	702	191	702	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20643926	20643926	+	RNA	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:20643926G>C	ENST00000428453.1	-	0	3533							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R948R(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCAGGGTGATGCGAGTCATGG	0.552																																						uc001ytg.2																			1	Substitution - coding silent(1)		lung(1)								c.(2842-2844)CGC>CGG		RecName: Full=Putative HERC2-like protein 3;							46.0	43.0	44.0					15																	20643926		2132	4089	6221			0							g.chr15:20643926G>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643926G>C						uc010tyx.1_RNA|uc001yth.3_Silent_p.R948R	p.R948R							23	3553	-									Silent	SNP	ENST00000428453.1	37	c.2844C>G																																																																																					PASS	0.552	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		14	104	14	104	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						uc001ytg.2																			4	Substitution - Missense(4)		lung(3)|endometrium(1)								c.(2407-2409)GCG>GTG		RecName: Full=Putative HERC2-like protein 3;							116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.A803V|uc010tyy.1_Missense_Mutation_p.A803V	p.A803V							21	3117	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2408C>T																																																																																					PASS	0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	72	4	72	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369213	22369213	+	Missense_Mutation	SNP	C	C	T	rs568954770	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:22369213C>T	ENST00000332663.2	+	1	736	c.638C>T	c.(637-639)gCt>gTt	p.A213V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A213V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTTGATTGCTCTGTTAATG	0.483													c|||	2	0.000399361	0.0015	0.0	5008	,	,		36528	0.0		0.0	False		,,,				2504	0.0					uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GCT>GTT		olfactory receptor, family 4, subfamily M,							672.0	462.0	533.0					15																	22369213		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369213C>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.638C>T	15.37:g.22369213C>T	ENSP00000329467:p.Ala213Val					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.A213V	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	638	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	213			Helical; Name=5; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.638C>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395955	0.01175	.	.	ENSG00000182974	ENST00000332663	T	0.32988	1.43	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000144	T	0.12860	0.0312	N	0.01086	-1.025	0.09310	N	1	P	0.42871	0.792	P	0.47251	0.542	T	0.10965	-1.0607	10	0.28530	T	0.3	-9.5359	8.6176	0.33842	0.0:1.0:0.0:0.0	.	213	Q8NGB6	OR4M2_HUMAN	V	213	ENSP00000329467:A213V	ENSP00000329467:A213V	A	+	2	0	OR4M2	19870577	0.008000	0.16893	0.944000	0.38274	0.268000	0.26511	2.116000	0.41930	1.422000	0.47177	0.448000	0.29417	GCT		PASS	0.483	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			7	119	7	119	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42057172	42057172	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:42057172A>G	ENST00000570161.1	+	22	7833	c.7833A>G	c.(7831-7833)ctA>ctG	p.L2611L	MGA_ENST00000219905.7_Silent_p.L2611L|MGA_ENST00000566586.1_Silent_p.L2402L|MGA_ENST00000545763.1_Silent_p.L2402L|MGA_ENST00000389936.4_Silent_p.L2572L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L2660L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGGTCCCCTATTCTCAGGAC	0.478																																						uc010ucy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7831-7833)CTA>CTG		MAX-interacting protein isoform 1							159.0	161.0	160.0					15																	42057172		2004	4179	6183	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42057172A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7833A>G	15.37:g.42057172A>G						MGA_uc010ucz.1_Silent_p.L2402L	p.L2611L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	23	8014	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2572					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.7833A>G	CCDS55959.1																																																																																				PASS	0.478	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		43	95	43	95	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49036454	49036454	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:49036454G>A	ENST00000380950.2	-	24	4005	c.3818C>T	c.(3817-3819)gCt>gTt	p.A1273V	CEP152_ENST00000399334.3_Missense_Mutation_p.A1217V|CEP152_ENST00000325747.5_Missense_Mutation_p.A1180V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1273					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.A1217V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTTTTACAGCTTTAATGTA	0.393																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(3649-3651)GCT>GTT		centrosomal protein 152kDa							51.0	47.0	49.0					15																	49036454		1800	4060	5860	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49036454G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3818C>T	15.37:g.49036454G>A	ENSP00000370337:p.Ala1273Val					CEP152_uc001zwz.2_Missense_Mutation_p.A1273V|CEP152_uc001zxa.1_Missense_Mutation_p.A1180V	p.A1217V	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	23	3684	-		all_lung(180;0.0428)	1217					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3650C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.62105	0.09;0.24;0.05	5.09	5.09	0.68999	.	0.151328	0.44285	D	0.000478	T	0.78534	0.4298	M	0.65498	2.005	0.50813	D	0.999894	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.994;0.984;0.984	T	0.80551	-0.1332	10	0.72032	D	0.01	-12.4121	18.8516	0.92232	0.0:0.0:1.0:0.0	.	1180;1273;1217	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	1273;1180;1217	ENSP00000370337:A1273V;ENSP00000321000:A1180V;ENSP00000382271:A1217V	ENSP00000321000:A1180V	A	-	2	0	CEP152	46823746	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.185000	0.77714	2.531000	0.85337	0.460000	0.39030	GCT		PASS	0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		6	27	6	27	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51973962	51973962	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:51973962C>T	ENST00000220478.3	+	1	413	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	4					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.L4F(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AATGGGGTTCCTCGGGACCGG	0.522																																						uc002abh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)CTC>TTC		secretogranin III isoform 1 precursor							95.0	82.0	86.0					15																	51973962		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51973962C>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.10C>T	15.37:g.51973962C>T	ENSP00000220478:p.Leu4Phe					SCG3_uc010ufz.1_5'UTR	p.L4F	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	1	418	+			4					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.10C>T	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.116998	0.37339	.	.	ENSG00000104112	ENST00000220478	T	0.27256	1.68	4.85	3.9	0.45041	.	0.315266	0.29707	N	0.011409	T	0.15046	0.0363	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.06826	-1.0805	10	0.42905	T	0.14	-0.1816	5.6631	0.17680	0.0:0.6891:0.1975:0.1134	.	4	Q8WXD2	SCG3_HUMAN	F	4	ENSP00000220478:L4F	ENSP00000220478:L4F	L	+	1	0	SCG3	49761254	0.993000	0.37304	0.999000	0.59377	0.739000	0.42172	1.654000	0.37334	1.191000	0.43056	0.591000	0.81541	CTC		PASS	0.522	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		33	19	33	19	---	---	---	---
FOXB1	27023	broad.mit.edu	37	15	60298008	60298008	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:60298008C>A	ENST00000396057.4	+	2	1325	c.846C>A	c.(844-846)acC>acA	p.T282T	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	282					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T282T(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CCATCCCCACCTTGCTCTCGA	0.736																																						uc002agj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(844-846)ACC>ACA		forkhead box B1							13.0	17.0	15.0					15																	60298008		2137	4140	6277	SO:0001819	synonymous_variant	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60298008C>A	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.846C>A	15.37:g.60298008C>A						FOXB1_uc010bgh.1_Intron	p.T282T	NM_012182	NP_036314	Q99853	FOXB1_HUMAN			2	1325	+			282					O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	c.846C>A	CCDS32255.1																																																																																				PASS	0.736	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			21	5	21	5	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89392689	89392689	+	Missense_Mutation	SNP	C	C	T	rs144501729	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:89392689C>T	ENST00000561243.1	+	9	1753	c.1753C>T	c.(1753-1755)Cgc>Tgc	p.R585C	ACAN_ENST00000558207.1_Missense_Mutation_p.R585C|ACAN_ENST00000439576.2_Missense_Mutation_p.R585C|ACAN_ENST00000559004.1_Missense_Mutation_p.R585C|ACAN_ENST00000352105.7_Missense_Mutation_p.R585C			P16112	PGCA_HUMAN	aggrecan	585	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R585C(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCGCCACACGCCTTGAGCA	0.627																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1753-1755)CGC>TGC		aggrecan isoform 2 precursor		C	CYS/ARG,CYS/ARG	1,4167		0,1,2083	17.0	19.0	18.0		1753,1753	4.2	0.0	15	dbSNP_134	18	0,8386		0,0,4193	yes	missense,missense	ACAN	NM_001135.3,NM_013227.3	180,180	0,1,6276	TT,TC,CC		0.0,0.024,0.0080	probably-damaging,probably-damaging	585/2432,585/2531	89392689	1,12553	2084	4193	6277	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392689C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1753C>T	15.37:g.89392689C>T	ENSP00000453342:p.Arg585Cys					ACAN_uc002bmx.2_Missense_Mutation_p.R585C|ACAN_uc010upp.1_Missense_Mutation_p.R585C|ACAN_uc002bna.2_RNA	p.R585C	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2127	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		585					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1753C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248265	0.39697	2.4E-4	0.0	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08458	3.09;3.09	5.11	4.19	0.49359	.	0.320773	0.17927	N	0.157313	T	0.17534	0.0421	L	0.38175	1.15	0.09310	N	0.999996	D;D;B	0.76494	0.999;0.999;0.247	P;P;B	0.60609	0.825;0.877;0.14	T	0.04065	-1.0980	10	0.62326	D	0.03	-6.8133	14.5447	0.68020	0.1471:0.8529:0.0:0.0	.	585;585;585	E7ENV9;E7EX88;Q6PID9	.;.;.	C	585	ENSP00000387356:R585C;ENSP00000341615:R585C	ENSP00000268134:R585C	R	+	1	0	ACAN	87193693	0.042000	0.20092	0.019000	0.16419	0.803000	0.45373	1.504000	0.35726	1.269000	0.44280	0.655000	0.94253	CGC		PASS	0.627	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		31	10	31	10	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99670662	99670662	+	Silent	SNP	C	C	T	rs372872812		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr15:99670662C>T	ENST00000560674.1	+	4	1708	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.S698S|SYNM_ENST00000336292.6_Silent_p.S698S|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	699	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.S698S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTGATGTTTCCGATGAAGCTG	0.458																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(2095-2097)TCC>TCT		desmuslin isoform A		C	,	0,3958		0,0,1979	80.0	79.0	80.0		2096,2096	-11.5	0.0	15		80	1,8323		0,1,4161	no	coding-synonymous,coding-synonymous	SYNM	NM_015286.5,NM_145728.2	,	0,1,6140	TT,TC,CC		0.012,0.0,0.0081	,	699/1254,699/1566	99670662	1,12281	1979	4162	6141	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670662C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1239C>T	15.37:g.99670662C>T						SYNM_uc002buo.2_Silent_p.S699S|SYNM_uc002buq.2_Intron	p.S699S	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	2217	+			699			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.2097C>T																																																																																					PASS	0.458	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		7	106	7	106	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4924934	4924934	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:4924934C>A	ENST00000396658.4	+	14	3226	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	UBN1_ENST00000590769.1_Silent_p.L841L|UBN1_ENST00000545171.1_Silent_p.L841L|UBN1_ENST00000262376.6_Silent_p.L841L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	841					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L841L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATCGTTCCCTCCTGCAGTTAG	0.577																																						uc002cyb.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(2521-2523)CTC>CTA		ubinuclein 1							62.0	62.0	62.0					16																	4924934		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924934C>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2523C>A	16.37:g.4924934C>A						UBN1_uc010uxw.1_Silent_p.L841L|UBN1_uc002cyc.2_Silent_p.L841L	p.L841L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2862	+			841					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2523C>A	CCDS10525.1																																																																																				PASS	0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		209	53	209	53	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4926941	4926941	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:4926941C>T	ENST00000396658.4	+	15	3797	c.3094C>T	c.(3094-3096)Cca>Tca	p.P1032S	UBN1_ENST00000590769.1_Missense_Mutation_p.P1032S|UBN1_ENST00000545171.1_Missense_Mutation_p.P1032S|UBN1_ENST00000262376.6_Missense_Mutation_p.P1032S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1032	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1032S(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATCCAGCAGCCCAAAGCTGTC	0.547																																						uc002cyb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3094-3096)CCA>TCA		ubinuclein 1							141.0	150.0	147.0					16																	4926941		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4926941C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3094C>T	16.37:g.4926941C>T	ENSP00000379894:p.Pro1032Ser					UBN1_uc010uxw.1_Missense_Mutation_p.P1032S|UBN1_uc002cyc.2_Missense_Mutation_p.P1032S	p.P1032S	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			16	3433	+			1032			Ser-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.3094C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204158	0.58234	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.43294	1.57;0.95;1.57	5.55	4.54	0.55810	.	0.082027	0.51477	D	0.000089	T	0.25344	0.0616	L	0.33485	1.01	0.29471	N	0.857057	B;B	0.30281	0.275;0.18	B;B	0.23419	0.046;0.021	T	0.11916	-1.0568	10	0.07325	T	0.83	-14.7387	10.4	0.44225	0.0:0.7819:0.1391:0.0789	.	1032;1032	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	S	1032	ENSP00000262376:P1032S;ENSP00000442379:P1032S;ENSP00000379894:P1032S	ENSP00000262376:P1032S	P	+	1	0	UBN1	4866942	0.893000	0.30496	1.000000	0.80357	0.969000	0.65631	0.964000	0.29306	2.894000	0.99253	0.655000	0.94253	CCA		PASS	0.547	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		44	876	44	876	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5009369	5009369	+	Silent	SNP	G	G	A	rs541090079	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:5009369G>A	ENST00000251170.7	+	2	225	c.45G>A	c.(43-45)ccG>ccA	p.P15P		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	15	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P15P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACAAGTACCCGTTTGAGCTGG	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20273	0.0		0.0	False		,,,				2504	0.0					uc002cye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)CCG>CCA		SEC14-like 5							119.0	120.0	119.0					16																	5009369		2089	4226	6315	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5009369G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.45G>A	16.37:g.5009369G>A							p.P15P	NM_014692	NP_055507	O43304	S14L5_HUMAN			2	225	+			15			PRELI/MSF1.			Silent	SNP	ENST00000251170.7	37	c.45G>A	CCDS45403.1																																																																																				PASS	0.577	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			130	41	130	41	---	---	---	---
CBLN1	869	broad.mit.edu	37	16	49315323	49315323	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:49315323C>A	ENST00000219197.6	-	1	419	c.54G>T	c.(52-54)ccG>ccT	p.P18P	CBLN1_ENST00000536749.1_Silent_p.P18P	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	18					cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)		p.P18P(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GCCCGCGGGCCGGGCCCGCCA	0.761																																						uc002efq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CCG>CCT		cerebellin 1 precursor							12.0	13.0	13.0					16																	49315323		2163	4243	6406	SO:0001819	synonymous_variant	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49315323C>A	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.54G>T	16.37:g.49315323C>A							p.P18P	NM_004352	NP_004343	P23435	CBLN1_HUMAN			1	393	-		all_cancers(37;0.0766)|all_lung(18;0.24)	18					B2RAN9|P02682|Q52M09	Silent	SNP	ENST00000219197.6	37	c.54G>T	CCDS10736.1																																																																																				PASS	0.761	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		8	19	8	19	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745778	50745778	+	Silent	SNP	G	G	A	rs141355588		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:50745778G>A	ENST00000300589.2	+	4	2061	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	652					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.S652S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCCAGGCCTCGGAGGGAAAGG	0.612																																						uc002egm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1954-1956)TCG>TCA		nucleotide-binding oligomerization domain		G		0,4396		0,0,2198	48.0	47.0	48.0		1956	-10.6	0.0	16	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NOD2	NM_022162.1		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		652/1041	50745778	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745778G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1956G>A	16.37:g.50745778G>A						NOD2_uc010cbk.1_Silent_p.S625S|NOD2_uc002egl.1_Silent_p.S430S|NOD2_uc010cbl.1_Silent_p.S430S|NOD2_uc010cbm.1_Silent_p.S430S|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.S652S	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	2061	+		all_cancers(37;0.0156)	652					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1956G>A	CCDS10746.1																																																																																				PASS	0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		55	140	55	140	---	---	---	---
ESRP2	80004	broad.mit.edu	37	16	68265952	68265952	+	Missense_Mutation	SNP	C	C	A	rs186017472		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:68265952C>A	ENST00000565858.1	-	10	1168	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.R351L	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	361	RRM 2.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R351L(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCCCCGCAGCCGCAGGATCAC	0.612																																						uc010cfa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1081-1083)CGG>CTG		RNA binding motif protein 35B							44.0	47.0	46.0					16																	68265952		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265952C>A	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1082G>T	16.37:g.68265952C>A	ENSP00000454554:p.Arg361Leu					ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.R351L	p.R361L	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			10	1270	-			361			RRM 2.		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1082G>T		.	.	.	.	.	.	.	.	.	.	C	17.74	3.463267	0.63513	.	.	ENSG00000103067	ENST00000473183	T	0.08193	3.12	5.83	5.83	0.93111	RNA recognition motif domain (1);	0.052727	0.85682	D	0.000000	T	0.41627	0.1167	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48007	-0.9072	10	0.54805	T	0.06	-20.3945	20.1082	0.97900	0.0:1.0:0.0:0.0	.	361;351	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	L	351	ENSP00000418748:R351L	ENSP00000418748:R351L	R	-	2	0	ESRP2	66823453	1.000000	0.71417	0.996000	0.52242	0.010000	0.07245	7.770000	0.85390	2.764000	0.94973	0.555000	0.69702	CGG		PASS	0.612	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		4	101	4	101	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84218553	84218553	+	Silent	SNP	G	G	A	rs141321804	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr16:84218553G>A	ENST00000567759.1	-	2	224	c.42C>T	c.(40-42)acC>acT	p.T14T	TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000378541.4_Silent_p.T14T|TAF1C_ENST00000566732.1_Silent_p.T14T|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000565544.1_5'Flank	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	14					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.T14T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAAGGGGGCCGGTCAGAAACA	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19010	0.0		0.001	False		,,,				2504	0.0					uc002fhn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(40-42)ACC>ACT		TBP-associated factor 1C isoform 1		G	,	1,4399	2.1+/-5.4	0,1,2199	40.0	35.0	37.0		42,	-6.3	0.0	16	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous,intron	TAF1C	NM_005679.3,NM_139353.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	14/870,	84218553	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84218553G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.42C>T	16.37:g.84218553G>A						TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.T14T|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.T14T	p.T14T	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			2	270	-			14					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.42C>T	CCDS32496.1																																																																																				PASS	0.607	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		26	84	26	84	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579480	7579480	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:7579480A>G	ENST00000269305.4	-	4	396	c.207T>C	c.(205-207)gcT>gcC	p.A69A	TP53_ENST00000413465.2_Silent_p.A69A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Silent_p.A69A|TP53_ENST00000420246.2_Silent_p.A69A|TP53_ENST00000455263.2_Silent_p.A69A|TP53_ENST00000445888.2_Silent_p.A69A	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	69	Interaction with HRMT1L2.|Interaction with WWOX.		A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A69A(3)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGGGGGAGCAGCCTCTGGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Whole gene deletion(8)|Deletion - Frameshift(7)|Substitution - coding silent(3)|Deletion - In frame(2)|Complex - frameshift(1)	p.0?(7)|p.G59fs*23(3)|p.A69G(3)|p.A69fs*54(1)|p.E68fs*76(1)|p.A69fs*79(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A69V(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(205-207)GCT>GCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	110.0	107.0					17																	7579480		2203	4300	6503	SO:0001819	synonymous_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579480A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.207T>C	17.37:g.7579480A>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Silent_p.A69A|TP53_uc002gih.2_Silent_p.A69A|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.A69A|TP53_uc010cni.1_Silent_p.A69A|TP53_uc002gij.2_Silent_p.A69A|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.A30A|TP53_uc010cnk.1_Silent_p.A84A	p.A69A	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	401	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	69		A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in a sporadic cancer; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.207T>C	CCDS11118.1																																																																																				PASS	0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		373	125	373	125	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7643087	7643087	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:7643087G>T	ENST00000572933.1	+	9	2667	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	DNAH2_ENST00000389173.2_Missense_Mutation_p.D403Y|DNAH2_ENST00000570791.1_Missense_Mutation_p.D485Y|DNAH2_ENST00000082259.3_Missense_Mutation_p.D485Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	403	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D403Y(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCTGGGAAGATGGCAAGCA	0.478																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1207-1209)GAT>TAT		dynein heavy chain domain 3							71.0	66.0	68.0					17																	7643087		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643087G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1207G>T	17.37:g.7643087G>T	ENSP00000458355:p.Asp403Tyr					DNAH2_uc002git.2_Missense_Mutation_p.D485Y|DNAH2_uc010vuk.1_Missense_Mutation_p.D403Y	p.D403Y	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			8	1221	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	403			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1207G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551041	0.86127	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55930	1.9;0.49	5.32	5.32	0.75619	.	0.207947	0.42172	D	0.000747	T	0.65312	0.2679	L	0.40543	1.245	0.45704	D	0.998615	D;D	0.69078	0.997;0.994	D;D	0.71870	0.975;0.946	T	0.66006	-0.6030	10	0.62326	D	0.03	.	17.9351	0.89010	0.0:0.0:1.0:0.0	.	403;485	Q9P225;Q9P225-3	DYH2_HUMAN;.	Y	403;403;485	ENSP00000373825:D403Y;ENSP00000082259:D485Y	ENSP00000082259:D485Y	D	+	1	0	DNAH2	7583812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.265000	0.89869	2.779000	0.95612	0.650000	0.86243	GAT		PASS	0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		61	25	61	25	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7697572	7697572	+	Splice_Site	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:7697572G>A	ENST00000572933.1	+	49	9030	c.7570G>A	c.(7570-7572)Gaa>Aaa	p.E2524K	DNAH2_ENST00000389173.2_Splice_Site_p.E2524K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2524	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2524K(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCTCTAGGAAATGTTCCT	0.597																																						uc002giu.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7570-7572)GAA>AAA		dynein heavy chain domain 3							58.0	53.0	55.0					17																	7697572		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7697572G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7570-1G>A	17.37:g.7697572G>A							p.E2524K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			48	7584	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2524			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7570G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595201	0.86953	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.38240	1.15	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.109437	0.64402	D	0.000013	T	0.21307	0.0513	N	0.05259	-0.085	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	18.8703	0.92311	0.0:0.0:1.0:0.0	.	2524	Q9P225	DYH2_HUMAN	K	2524	ENSP00000373825:E2524K	.	E	+	1	0	DNAH2	7638297	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.405000	0.90213	2.764000	0.94973	0.650000	0.86243	GAA		PASS	0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Missense_Mutation	78	32	78	32	---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7910749	7910749	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:7910749G>A	ENST00000254854.4	+	6	1619	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	490					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R490Q(1)		skin(1)	1		Prostate(122;0.157)				ACCAGGCACCGGCTACTTCAC	0.592																																						uc002gjt.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1468-1470)CGG>CAG		guanylate cyclase 2D, membrane (retina-specific)							105.0	102.0	103.0					17																	7910749		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7910749G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1469G>A	17.37:g.7910749G>A	ENSP00000254854:p.Arg490Gln						p.R490Q	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			6	1543	+		Prostate(122;0.157)	490			Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1469G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388655	0.42308	.	.	ENSG00000132518	ENST00000254854	D	0.83591	-1.74	5.52	0.753	0.18404	.	0.440036	0.19338	N	0.116724	T	0.74261	0.3693	L	0.41710	1.295	0.18873	N	0.999989	B	0.22146	0.065	B	0.11329	0.006	T	0.59768	-0.7392	10	0.28530	T	0.3	.	14.1923	0.65646	0.2084:0.0:0.7916:0.0	.	490	Q02846	GUC2D_HUMAN	Q	490	ENSP00000254854:R490Q	ENSP00000254854:R490Q	R	+	2	0	GUCY2D	7851474	0.946000	0.32159	0.998000	0.56505	0.972000	0.66771	2.884000	0.48562	0.309000	0.22966	-1.267000	0.01435	CGG		PASS	0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			10	346	10	346	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10419544	10419544	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:10419544T>C	ENST00000226207.5	-	4	414	c.320A>G	c.(319-321)aAa>aGa	p.K107R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	107	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K107R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTAGCGCTCTTTGAGGTTGTA	0.453																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(319-321)AAA>AGA		myosin, heavy chain 1, skeletal muscle, adult							247.0	219.0	228.0					17																	10419544		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419544T>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.320A>G	17.37:g.10419544T>C	ENSP00000226207:p.Lys107Arg					uc002gml.1_Intron	p.K107R	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	414	-			107			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.320A>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505871	0.85282	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88354	-2.37	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.000000	0.46145	U	0.000316	T	0.79759	0.4501	N	0.16656	0.425	0.54753	D	0.999986	B	0.02656	0.0	B	0.14578	0.011	T	0.74272	-0.3719	10	0.09338	T	0.73	.	15.569	0.76320	0.0:0.0:0.0:1.0	.	107	P12882	MYH1_HUMAN	R	107	ENSP00000226207:K107R	ENSP00000226207:K107R	K	-	2	0	MYH1	10360269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.858000	0.86971	2.252000	0.74401	0.533000	0.62120	AAA		PASS	0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		49	12	49	12	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12642621	12642621	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:12642621C>A	ENST00000343344.4	+	7	693	c.693C>A	c.(691-693)ccC>ccA	p.P231P	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.P135P|MYOCD_ENST00000425538.1_Silent_p.P231P			Q8IZQ8	MYCD_HUMAN	myocardin	231					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P231P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCACCCCCATAGCCGTGC	0.587																																						uc002gnn.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(691-693)CCC>CCA		myocardin isoform 2							51.0	46.0	48.0					17																	12642621		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642621C>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.693C>A	17.37:g.12642621C>A						MYOCD_uc002gno.2_Silent_p.P231P|MYOCD_uc002gnp.1_Silent_p.P135P	p.P231P	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	992	+			231					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.693C>A	CCDS11163.1																																																																																				PASS	0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		4	76	4	76	---	---	---	---
ATPAF2	91647	broad.mit.edu	37	17	17942271	17942271	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:17942271C>T	ENST00000474627.3	-	1	211	c.57G>A	c.(55-57)ccG>ccA	p.P19P	GID4_ENST00000268719.4_5'Flank|GID4_ENST00000376345.3_5'Flank|ATPAF2_ENST00000585101.1_Silent_p.P19P	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	19					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)		p.P19P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GGCCACCCGCCGGCCGATTCA	0.672																																						uc002gse.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)CCG>CCA		ATP synthase mitochondrial F1 complex assembly							12.0	15.0	14.0					17																	17942271		2188	4283	6471	SO:0001819	synonymous_variant	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17942271C>T	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.57G>A	17.37:g.17942271C>T						C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Silent_p.P19P	p.P19P	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			1	210	-	all_neural(463;0.228)		19					A6NDE5|A8K2J2|Q6XYC7	Silent	SNP	ENST00000474627.3	37	c.57G>A	CCDS32585.1																																																																																				PASS	0.672	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		47	4	47	4	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28380673	28380673	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:28380673A>C	ENST00000394835.3	+	10	1893	c.1701A>C	c.(1699-1701)gaA>gaC	p.E567D	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E567D|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E224D|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E567D|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E567D|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E511D	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	567							calcium ion binding (GO:0005509)	p.E567D(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGAACAAGAAACACACAGAG	0.438																																						uc002het.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1699-1701)GAA>GAC		EF-hand calcium binding domain 5 isoform a							146.0	138.0	141.0					17																	28380673		2043	4185	6228	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380673A>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1701A>C	17.37:g.28380673A>C	ENSP00000378312:p.Glu567Asp					EFCAB5_uc010wbi.1_Missense_Mutation_p.E310D|EFCAB5_uc010wbj.1_Missense_Mutation_p.E511D|EFCAB5_uc010wbk.1_Missense_Mutation_p.E224D|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E446D|EFCAB5_uc010csf.2_Missense_Mutation_p.E446D	p.E567D	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	1893	+			567					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1701A>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699239	0.48307	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.46	-0.467	0.12150	.	3.950560	0.00465	N	0.000110	T	0.25419	0.0618	N	0.14661	0.345	0.09310	N	1	P;P;P;P;B;P	0.51933	0.495;0.628;0.867;0.949;0.004;0.545	B;B;B;B;B;B	0.42593	0.119;0.236;0.269;0.392;0.006;0.269	T	0.14420	-1.0473	10	0.15066	T	0.55	0.7359	5.1824	0.15167	0.4622:0.0:0.3953:0.1425	.	511;511;567;567;567;567	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	D	511;310;224;567;567;567;567;511;373	ENSP00000440619:E511D;ENSP00000445575:E224D;ENSP00000378312:E567D;ENSP00000322003:E567D;ENSP00000378309:E567D;ENSP00000368012:E567D;ENSP00000417009:E373D	ENSP00000322003:E567D	E	+	3	2	EFCAB5	25404799	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	1.225000	0.32551	-0.299000	0.08909	-0.290000	0.09829	GAA		PASS	0.438	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		4	45	4	45	---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30310095	30310095	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:30310095C>T	ENST00000322652.5	+	9	1224	c.995C>T	c.(994-996)gCa>gTa	p.A332V	SUZ12_ENST00000580398.1_Missense_Mutation_p.A309V	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	332					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.A332V(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGAAAAGAGCAACATGGGAG	0.398			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - Missense(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(994-996)GCA>GTA		joined to JAZF1							130.0	124.0	126.0					17																	30310095		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30310095C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.995C>T	17.37:g.30310095C>T	ENSP00000316578:p.Ala332Val					SUZ12_uc002hgt.2_Missense_Mutation_p.A309V	p.A332V	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			9	1217	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	332					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.995C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108790	0.56398	.	.	ENSG00000178691	ENST00000322652	T	0.53206	0.63	4.59	4.59	0.56863	.	0.052571	0.85682	D	0.000000	T	0.66684	0.2814	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.78314	0.837;0.991	T	0.70978	-0.4725	10	0.66056	D	0.02	-5.7265	17.4668	0.87634	0.0:1.0:0.0:0.0	.	332;332	A8K1U9;Q15022	.;SUZ12_HUMAN	V	332	ENSP00000316578:A332V	ENSP00000316578:A332V	A	+	2	0	SUZ12	27334208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.101000	0.63845	0.597000	0.82753	GCA		PASS	0.398	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		36	41	36	41	---	---	---	---
SPACA3	124912	broad.mit.edu	37	17	31323996	31323996	+	Missense_Mutation	SNP	A	A	T	rs201467254		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:31323996A>T	ENST00000269053.3	+	3	549	c.479A>T	c.(478-480)aAc>aTc	p.N160I	SPACA3_ENST00000580599.1_Missense_Mutation_p.N91I|SPACA3_ENST00000394638.1_Missense_Mutation_p.N57I|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	160					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.N160I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AACGTCCCCAACGTGTGCCGG	0.587																																						uc002hhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(478-480)AAC>ATC		sperm acrosome associated 3							87.0	76.0	80.0					17																	31323996		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31323996A>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.479A>T	17.37:g.31323996A>T	ENSP00000269053:p.Asn160Ile					SPACA3_uc010cte.1_RNA	p.N160I	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		3	554	+			160			Extracellular (Potential).		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.479A>T	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344601	0.61073	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.73363	-0.74;-0.74	4.71	4.71	0.59529	Lysozyme-like domain (1);	0.067472	0.53938	D	0.000047	D	0.89570	0.6753	H	0.95950	3.745	0.19300	N	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.83425	0.0035	10	0.87932	D	0	-8.2567	10.4923	0.44758	1.0:0.0:0.0:0.0	.	160	Q8IXA5	SACA3_HUMAN	I	160;57;161;68	ENSP00000269053:N160I;ENSP00000378134:N57I	ENSP00000269053:N160I	N	+	2	0	SPACA3	28348109	0.990000	0.36364	0.131000	0.22000	0.023000	0.10783	5.327000	0.65881	0.186000	0.20125	0.297000	0.19635	AAC		PASS	0.587	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		91	131	91	131	---	---	---	---
TBX21	30009	broad.mit.edu	37	17	45820467	45820467	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:45820467C>G	ENST00000177694.1	+	3	888	c.677C>G	c.(676-678)cCc>cGc	p.P226R		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	226					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P226R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCGGACTCCCCCAACACAGGA	0.562																																						uc002ilv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CCC>CGC		T-box 21							85.0	79.0	81.0					17																	45820467		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45820467C>G	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.677C>G	17.37:g.45820467C>G	ENSP00000177694:p.Pro226Arg						p.P226R	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			3	888	+			226			T-box.			Missense_Mutation	SNP	ENST00000177694.1	37	c.677C>G	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311653	0.81358	.	.	ENSG00000073861	ENST00000177694	D	0.89343	-2.5	4.89	4.89	0.63831	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.060694	0.64402	D	0.000002	D	0.96855	0.8973	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98581	1.0650	10	0.87932	D	0	.	17.2584	0.87064	0.0:1.0:0.0:0.0	.	226	Q9UL17	TBX21_HUMAN	R	226	ENSP00000177694:P226R	ENSP00000177694:P226R	P	+	2	0	TBX21	43175466	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.717000	0.84732	2.443000	0.82685	0.558000	0.71614	CCC		PASS	0.562	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		29	407	29	407	---	---	---	---
SP6	80320	broad.mit.edu	37	17	45924822	45924822	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:45924822C>T	ENST00000536300.1	-	2	1305	c.974G>A	c.(973-975)cGc>cAc	p.R325H	SP6_ENST00000342234.2_Missense_Mutation_p.R325H	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	325					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R325H(1)		large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GTGGTCGCTGCGCATGAAGAC	0.692																																						uc002img.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(973-975)CGC>CAC		Sp6 transcription factor							37.0	35.0	36.0					17																	45924822		2203	4300	6503	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924822C>T		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.974G>A	17.37:g.45924822C>T	ENSP00000438209:p.Arg325His					SP6_uc002imh.1_Missense_Mutation_p.R325H	p.R325H	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			2	1306	-			325			C2H2-type 3.		B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.974G>A	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318771	0.81469	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.35973	1.28;1.28	4.4	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160951	0.29609	N	0.011665	T	0.38719	0.1051	N	0.08118	0	0.47905	D	0.999543	D	0.89917	1.0	D	0.87578	0.998	T	0.48854	-0.8998	10	0.87932	D	0	.	13.2328	0.59953	0.0:0.8385:0.1615:0.0	.	325	Q3SY56	SP6_HUMAN	H	325	ENSP00000340799:R325H;ENSP00000438209:R325H	ENSP00000340799:R325H	R	-	2	0	SP6	43279821	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.908000	0.69916	1.028000	0.39785	0.462000	0.41574	CGC		PASS	0.692	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		9	253	9	253	---	---	---	---
SPATA20	64847	broad.mit.edu	37	17	48632997	48632997	+	Missense_Mutation	SNP	G	G	A	rs150608206	byFrequency	TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:48632997G>A	ENST00000356488.4	+	16	2418	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	SPATA20_ENST00000393244.3_Missense_Mutation_p.E735K|SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.E795K|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	779					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.E795K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGATCCCTGCGAATTACGAAA	0.567																																						uc002irf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2335-2337)GAA>AAA		spermatogenesis associated 20		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	85.0	75.0	79.0		2383	5.7	0.1	17	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPATA20	NM_022827.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	795/803	48632997	2,13004	2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48632997G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2335G>A	17.37:g.48632997G>A	ENSP00000348878:p.Glu779Lys					SPATA20_uc002irc.2_Missense_Mutation_p.E446K|SPATA20_uc002ire.2_Missense_Mutation_p.E735K|SPATA20_uc002ird.2_Missense_Mutation_p.E795K|SPATA20_uc002irg.2_RNA	p.E779K	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		16	2476	+	Breast(11;1.23e-18)		779					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2335G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	g	18.71	3.682033	0.68042	2.27E-4	1.16E-4	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244;ENST00000544362	T;T;T	0.23754	1.89;1.9;1.91	5.72	5.72	0.89469	.	0.199352	0.41294	D	0.000917	T	0.22244	0.0536	L	0.46670	1.46	0.27851	N	0.940755	P;P	0.41265	0.627;0.744	B;B	0.33392	0.079;0.163	T	0.26573	-1.0099	10	0.52906	T	0.07	-12.7752	14.1484	0.65364	0.074:0.0:0.926:0.0	.	779;795	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	K	795;779;735;68	ENSP00000006658:E795K;ENSP00000348878:E779K;ENSP00000376935:E735K	ENSP00000006658:E795K	E	+	1	0	SPATA20	45987996	1.000000	0.71417	0.139000	0.22197	0.478000	0.33099	7.300000	0.78841	2.709000	0.92574	0.561000	0.74099	GAA		PASS	0.567	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		31	297	31	297	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56270816	56270816	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:56270816A>G	ENST00000225371.5	+	3	365	c.255A>G	c.(253-255)acA>acG	p.T85T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	85					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T85T(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCACCAGGACAGTTGTTCGGG	0.572																																						uc002ivq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(253-255)ACA>ACG		eosinophil peroxidase preproprotein							90.0	84.0	86.0					17																	56270816		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270816A>G	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.255A>G	17.37:g.56270816A>G							p.T85T	NM_000502	NP_000493	P11678	PERE_HUMAN			3	341	+			85					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.255A>G	CCDS11602.1																																																																																				PASS	0.572	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		467	190	467	190	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56389406	56389406	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:56389406T>C	ENST00000343736.4	-	17	2939	c.2776A>G	c.(2776-2778)Agt>Ggt	p.S926G	BZRAP1_ENST00000268893.6_Missense_Mutation_p.S866G|BZRAP1_ENST00000355701.3_Missense_Mutation_p.S926G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	926	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.S926G(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGTAGGTACTGGGGCTGGCA	0.622																																						uc002ivx.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(2776-2778)AGT>GGT		peripheral benzodiazepine receptor-associated							72.0	69.0	70.0					17																	56389406		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389406T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2776A>G	17.37:g.56389406T>C	ENSP00000345824:p.Ser926Gly					BZRAP1_uc010dcs.2_Missense_Mutation_p.S866G|BZRAP1_uc010wnt.1_Missense_Mutation_p.S926G	p.S926G	NM_004758	NP_004749	O95153	RIMB1_HUMAN			17	3647	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		926			Fibronectin type-III 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2776A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	7.286	0.609999	0.14066	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.54866	0.55;3.56;3.56	4.95	3.65	0.41850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.047073	0.85682	D	0.000000	T	0.18130	0.0435	N	0.02391	-0.57	0.36449	D	0.865966	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.14578	0.001;0.011;0.002	T	0.31503	-0.9941	10	0.02654	T	1	.	3.5723	0.07922	0.0:0.3197:0.0:0.6803	.	926;866;926	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	926;926;866	ENSP00000347929:S926G;ENSP00000345824:S926G;ENSP00000268893:S866G	ENSP00000268893:S866G	S	-	1	0	BZRAP1	53744405	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.096000	0.71446	2.002000	0.58637	0.374000	0.22700	AGT		PASS	0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		513	187	513	187	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57760366	57760366	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:57760366C>G	ENST00000269122.3	+	24	4138	c.3864C>G	c.(3862-3864)aaC>aaG	p.N1288K	CLTC_ENST00000579456.1_Missense_Mutation_p.N225K|CLTC_ENST00000393043.1_Missense_Mutation_p.N1288K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1288	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.N1288K(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AACTTATCAACTACTATCAGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(3862-3864)AAC>AAG		clathrin heavy chain 1							129.0	121.0	124.0					17																	57760366		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57760366C>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3864C>G	17.37:g.57760366C>G	ENSP00000269122:p.Asn1288Lys					CLTC_uc002ixp.2_Missense_Mutation_p.N1288K|CLTC_uc002ixr.1_Missense_Mutation_p.N1292K	p.N1288K	NM_004859	NP_004850	Q00610	CLH1_HUMAN			24	4307	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1288			Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.3864C>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	1.275	-0.611944	0.03690	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.16196	2.36;2.36	5.59	4.63	0.57726	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.098719	0.64402	D	0.000001	T	0.11367	0.0277	L	0.38175	1.15	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.17098	0.017;0.002	T	0.06716	-1.0811	10	0.02654	T	1	-16.2208	9.7434	0.40431	0.0:0.7839:0.0:0.2161	.	1288;1288	Q00610;Q00610-2	CLH1_HUMAN;.	K	1288	ENSP00000269122:N1288K;ENSP00000376763:N1288K	ENSP00000269122:N1288K	N	+	3	2	CLTC	55115148	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.665000	0.46791	1.374000	0.46228	0.462000	0.41574	AAC		PASS	0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		22	14	22	14	---	---	---	---
RNFT1	51136	broad.mit.edu	37	17	58040566	58040567	+	Missense_Mutation	DNP	GC	GC	TT	rs142393490		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:58040566_58040567GC>TT	ENST00000305783.8	-	2	190_191	c.135_136GC>AA	c.(133-138)ctGCac>ctAAac	p.H46N	RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Missense_Mutation_p.H9N|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	46						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.H46N(2)|p.H9N(2)|p.L45L(1)|p.L8L(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GGAGGACTGTGCAGTTGGCTAC	0.47																																						uc002iya.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)		0						c.(136-138)CAC>AAC|c.(133-135)CTG>CTA		PTD016 protein																																				SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040566G>T|g.chr17:58040567C>T	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.135_136delinsTT	17.37:g.58040566_58040567delinsTT	ENSP00000304670:p.His46Asn					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.H46N|RNFT1_uc002iyd.3_Missense_Mutation_p.H46N|uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Silent_p.L45L|RNFT1_uc002iyd.3_Silent_p.L45L	p.H46N|p.L45L	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	229|228	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		46|45					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation|Silent	SNP	ENST00000305783.8	37	c.136C>A|c.135G>A	CCDS11622.2																																																																																				PASS	0.470	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		47|46	222|220	46	220	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59481839	59481839	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:59481839A>T	ENST00000240328.3	+	4	1149	c.868A>T	c.(868-870)Aac>Tac	p.N290Y	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	290					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N280Y(1)		endometrium(1)|lung(7)|ovary(1)	9						GGACACCGGGAACGGCCGGCG	0.682																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)AAC>TAC		T-box 2							33.0	31.0	32.0					17																	59481839		2199	4299	6498	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59481839A>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.868A>T	17.37:g.59481839A>T	ENSP00000240328:p.Asn290Tyr					TBX2_uc002ize.2_Missense_Mutation_p.N280Y|TBX2_uc002izg.2_Missense_Mutation_p.N136Y	p.N290Y	NM_005994	NP_005985	Q13207	TBX2_HUMAN			4	1149	+			290					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.868A>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460981	0.84317	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.87571	-2.27	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.91791	0.7403	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.997;0.964	D;P	0.66602	0.945;0.573	D	0.91403	0.5145	10	0.41790	T	0.15	.	12.8433	0.57815	1.0:0.0:0.0:0.0	.	290;227	Q13207;Q59FT1	TBX2_HUMAN;.	Y	290;265	ENSP00000240328:N290Y	ENSP00000240328:N290Y	N	+	1	0	TBX2	56836621	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.956000	0.93066	1.711000	0.51337	0.459000	0.35465	AAC		PASS	0.682	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		14	69	14	69	---	---	---	---
APOH	350	broad.mit.edu	37	17	64210707	64210707	+	Silent	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:64210707A>T	ENST00000205948.6	-	7	883	c.846T>A	c.(844-846)atT>atA	p.I282I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	282	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.I282I(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ATTTTTCCTGAATCTTTACTC	0.363																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(844-846)ATT>ATA		apolipoprotein H precursor							143.0	140.0	141.0					17																	64210707		2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64210707A>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.846T>A	17.37:g.64210707A>T							p.I282I	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		7	905	-			282			Sushi-like.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.846T>A	CCDS11663.1																																																																																				PASS	0.363	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		20	162	20	162	---	---	---	---
PSMD12	5718	broad.mit.edu	37	17	65346408	65346408	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:65346408T>A	ENST00000356126.3	-	4	449	c.342A>T	c.(340-342)gaA>gaT	p.E114D	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.E94D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E114D(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GGTCTGTGATTTCCTCAACAT	0.333																																						uc002jfy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GAA>GAT		proteasome 26S non-ATPase subunit 12 isoform 1							93.0	86.0	88.0					17																	65346408		2203	4300	6503	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65346408T>A	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.342A>T	17.37:g.65346408T>A	ENSP00000348442:p.Glu114Asp					PSMD12_uc002jga.2_Missense_Mutation_p.E94D|PSMD12_uc002jfz.2_Missense_Mutation_p.E55D|PSMD12_uc010det.1_Missense_Mutation_p.E114D	p.E114D	NM_002816	NP_002807	O00232	PSD12_HUMAN			4	428	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		114					A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.342A>T	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156206	0.38021	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	0.94;0.94	4.86	1.43	0.22495	.	0.151803	0.56097	D	0.000021	T	0.24314	0.0589	N	0.26042	0.785	0.33103	D	0.539449	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24835	-1.0149	10	0.16896	T	0.51	-17.9781	8.1832	0.31324	0.0:0.4389:0.0:0.5611	.	94;114	A6NP15;O00232	.;PSD12_HUMAN	D	114;94	ENSP00000348442:E114D;ENSP00000349667:E94D	ENSP00000348442:E114D	E	-	3	2	PSMD12	62776870	0.997000	0.39634	1.000000	0.80357	0.948000	0.59901	0.348000	0.20031	0.317000	0.23160	0.383000	0.25322	GAA		PASS	0.333	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		6	24	6	24	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67045446	67045446	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:67045446C>A	ENST00000340001.4	-	3	493	c.282G>T	c.(280-282)gtG>gtT	p.V94V	ABCA9_ENST00000495634.1_Silent_p.V94V|ABCA9_ENST00000453985.2_Silent_p.V94V|ABCA9_ENST00000370732.2_Silent_p.V94V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	94					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V94V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGCTGAAGCCACTTTGTTCA	0.348																																						uc002jhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(280-282)GTG>GTT		ATP-binding cassette, sub-family A, member 9							149.0	146.0	147.0					17																	67045446		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67045446C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.282G>T	17.37:g.67045446C>A						ABCA9_uc010dez.2_Silent_p.V94V|ABCA9_uc002jhv.2_Silent_p.V94V	p.V94V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			3	425	-	Breast(10;1.47e-12)		94					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.282G>T	CCDS11681.1																																																																																				PASS	0.348	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		7	22	7	22	---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73237582	73237582	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:73237582G>A	ENST00000245541.6	-	10	1061	c.845C>T	c.(844-846)gCc>gTc	p.A282V	GGA3_ENST00000351904.7_Missense_Mutation_p.A249V|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582486.1_Missense_Mutation_p.A210V|GGA3_ENST00000578348.1_Missense_Mutation_p.A160V|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_Missense_Mutation_p.A210V|GGA3_ENST00000538886.1_Missense_Mutation_p.A160V	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	282	Binds to ARF1 (in long isoform).|GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.A282V(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GTTGTCACTGGCTTGCAGGAT	0.522																																						uc002jni.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(844-846)GCC>GTC		ADP-ribosylation factor binding protein 3							195.0	192.0	193.0					17																	73237582		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73237582G>A	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.845C>T	17.37:g.73237582G>A	ENSP00000245541:p.Ala282Val					GGA3_uc002jnj.1_Missense_Mutation_p.A249V|GGA3_uc010wrw.1_Missense_Mutation_p.A160V|GGA3_uc002jnk.1_Missense_Mutation_p.A210V|GGA3_uc010wrx.1_Missense_Mutation_p.A160V|GGA3_uc010wry.1_Missense_Mutation_p.A210V	p.A282V	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		10	854	-			282			GAT.|Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.845C>T	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533140	0.64972	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38722	1.12;1.12;1.12	4.88	4.88	0.63580	GAT (2);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.58428	1.81	0.80722	D	1	D;P;D	0.89917	1.0;0.542;1.0	D;P;D	0.97110	0.999;0.55;1.0	T	0.50898	-0.8773	10	0.02654	T	1	-22.6476	18.5819	0.91174	0.0:0.0:1.0:0.0	.	160;249;282	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	V	282;249;210;160	ENSP00000245541:A282V;ENSP00000326575:A249V;ENSP00000446421:A160V	ENSP00000245541:A282V	A	-	2	0	GGA3	70749177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.688000	0.91661	0.655000	0.94253	GCC		PASS	0.522	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		18	597	18	597	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74475254	74475254	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:74475254C>T	ENST00000313080.4	-	5	738	c.465G>A	c.(463-465)aaG>aaA	p.K155K	RHBDF2_ENST00000591885.1_Silent_p.K126K|RHBDF2_ENST00000389760.4_Silent_p.K126K|RHBDF2_ENST00000592378.1_5'UTR	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	155					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.K155K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGCACGAGGCCTTCAGGCGGC	0.682																																						uc002jrq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)AAG>AAA		rhomboid, veinlet-like 6 isoform 1							39.0	46.0	44.0					17																	74475254		2203	4299	6502	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74475254C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.465G>A	17.37:g.74475254C>T						RHBDF2_uc002jrp.1_Silent_p.K126K|RHBDF2_uc002jrr.1_Silent_p.K7K|RHBDF2_uc010wtf.1_Silent_p.K126K|RHBDF2_uc002jrs.1_Silent_p.K126K	p.K155K	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			5	758	-			155			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.465G>A	CCDS32743.1																																																																																				PASS	0.682	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		62	241	62	241	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046155	76046155	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:76046155G>A	ENST00000588061.1	+	5	1739	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	TNRC6C_ENST00000544502.1_Missense_Mutation_p.G338S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G338S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G338S|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G338S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G338S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	338	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G338S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCTCTAACGGTGTGAATGG	0.557																																						uc002jud.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1012-1014)GGT>AGT		trinucleotide repeat containing 6C isoform 2							73.0	75.0	74.0					17																	76046155		1932	4124	6056	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046155G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1012G>A	17.37:g.76046155G>A	ENSP00000468647:p.Gly338Ser					TNRC6C_uc002juf.2_Missense_Mutation_p.G338S|TNRC6C_uc002jue.2_Missense_Mutation_p.G338S	p.G338S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	1612	+			338			Sufficient for interaction with argonaute family proteins.|Gly-rich.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1012G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	g	2.738	-0.262972	0.05754	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.13538	2.58;2.59;2.59;2.58	5.36	2.37	0.29283	.	0.213048	0.48286	N	0.000193	T	0.12092	0.0294	L	0.46157	1.445	0.31181	N	0.70203	B;B;B	0.21452	0.056;0.022;0.008	B;B;B	0.17979	0.018;0.02;0.001	T	0.08700	-1.0709	10	0.31617	T	0.26	-3.7144	10.5953	0.45333	0.2054:0.0:0.7946:0.0	.	338;338;338	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	S	338	ENSP00000336783:G338S;ENSP00000301624:G338S;ENSP00000440310:G338S;ENSP00000442421:G338S	ENSP00000301624:G338S	G	+	1	0	TNRC6C	73557750	0.981000	0.34729	0.460000	0.27093	0.852000	0.48524	1.303000	0.33470	0.424000	0.26061	-0.119000	0.15052	GGT		PASS	0.557	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		50	258	50	258	---	---	---	---
CD7	924	broad.mit.edu	37	17	80274690	80274690	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:80274690A>G	ENST00000312648.3	-	2	356	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Missense_Mutation_p.F84L	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	84	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F84L(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGGCCCCGGAACCGTCTGTCC	0.637																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TTC>CTC		CD7 antigen precursor							103.0	96.0	98.0					17																	80274690		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274690A>G	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.250T>C	17.37:g.80274690A>G	ENSP00000312027:p.Phe84Leu					CD7_uc010din.2_Missense_Mutation_p.F84L|CD7_uc002kem.2_Missense_Mutation_p.V65A|CD7_uc010wvk.1_Missense_Mutation_p.F84L	p.F84L	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	359	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		84			Ig-like.|Extracellular (Probable).			Missense_Mutation	SNP	ENST00000312648.3	37	c.250T>C	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	A	7.417	0.635947	0.14386	.	.	ENSG00000173762	ENST00000312648	T	0.70045	-0.45	3.17	2.08	0.27032	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.252732	0.27549	N	0.018875	T	0.81692	0.4876	M	0.93763	3.455	0.19775	N	0.999955	D;D;D	0.71674	0.998;0.995;0.995	D;D;D	0.70227	0.968;0.965;0.965	T	0.70666	-0.4809	10	0.87932	D	0	-35.7807	4.7379	0.12997	0.7311:0.0:0.2689:0.0	.	84;84;84	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	L	84	ENSP00000312027:F84L	ENSP00000312027:F84L	F	-	1	0	CD7	77867979	0.369000	0.25039	0.004000	0.12327	0.006000	0.05464	1.581000	0.36558	0.617000	0.30160	0.260000	0.18958	TTC		PASS	0.637	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		138	566	138	566	---	---	---	---
CABYR	26256	broad.mit.edu	37	18	21723346	21723346	+	Silent	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:21723346A>G	ENST00000399496.3	+	3	333	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CABYR_ENST00000415309.2_Silent_p.K56K|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Silent_p.K56K|CABYR_ENST00000581397.1_Silent_p.K56K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	56					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.K56K(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TGGATATAAAAGATCTGGTTA	0.274																																						uc002kux.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(166-168)AAA>AAG		calcium-binding tyrosine							39.0	42.0	41.0					18																	21723346		2191	4288	6479	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21723346A>G	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.168A>G	18.37:g.21723346A>G						CABYR_uc010xbb.1_Intron|CABYR_uc002kuy.2_Silent_p.K56K|CABYR_uc002kuz.2_Silent_p.K56K|CABYR_uc002kva.2_Intron|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Silent_p.K56K	p.K56K	NM_012189	NP_036321	O75952	CABYR_HUMAN			3	320	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		56					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	c.168A>G	CCDS42420.1																																																																																				PASS	0.274	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		16	7	16	7	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806790	22806790	+	Silent	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:22806790T>A	ENST00000361524.3	-	4	1240	c.1092A>T	c.(1090-1092)tcA>tcT	p.S364S	ZNF521_ENST00000584787.1_Silent_p.S144S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.S364S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	364					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S364S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCTGTCCACTGAGAGGTTGG	0.582			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1090-1092)TCA>TCT		zinc finger protein 521							72.0	69.0	70.0					18																	22806790		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806790T>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1092A>T	18.37:g.22806790T>A						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.S364S|ZNF521_uc002kvl.2_Silent_p.S144S	p.S364S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1339	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		364					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1092A>T	CCDS32806.1																																																																																				PASS	0.582	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		6	55	6	55	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31523135	31523136	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:31523135_31523136GG>TT	ENST00000261592.5	-	9	1732_1733	c.1435_1436CC>AA	c.(1435-1437)CCt>AAt	p.P479N	NOL4_ENST00000535384.1_Missense_Mutation_p.P194N|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.P405N|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.P260N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	479						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.P479H(1)|p.P479T(1)|p.P479N(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGAAGGAATAGGTCGAGACTAA	0.406																																						uc010dmi.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(1435-1437)CCT>CAT|c.(1435-1437)CCT>ACT		nucleolar protein 4																																				SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523135G>T|g.chr18:31523136G>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1435_1436delinsTT	18.37:g.31523135_31523136delinsTT	ENSP00000261592:p.Pro479Asn					NOL4_uc010xbs.1_Missense_Mutation_p.P194H|NOL4_uc002kxr.3_Missense_Mutation_p.P251H|NOL4_uc010xbt.1_Missense_Mutation_p.P405H|NOL4_uc010dmh.2_Missense_Mutation_p.P341H|NOL4_uc010xbu.1_Missense_Mutation_p.P415H|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.P164H|NOL4_uc010xbs.1_Missense_Mutation_p.P194T|NOL4_uc002kxr.3_Missense_Mutation_p.P251T|NOL4_uc010xbt.1_Missense_Mutation_p.P405T|NOL4_uc010dmh.2_Missense_Mutation_p.P341T|NOL4_uc010xbu.1_Missense_Mutation_p.P415T|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.P164T	p.P479H|p.P479T	NM_003787	NP_003778	O94818	NOL4_HUMAN			9	1665|1664	-			479					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1436C>A|c.1435C>A	CCDS11907.2																																																																																				PASS	0.406	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		4	13	4	13	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43532399	43532399	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:43532399G>A	ENST00000282041.5	-	3	1253	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	407					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L407L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAAGATCTCAGAACAGCTGAA	0.438																																						uc002lbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1219-1221)CTG>TTG		hypothetical protein LOC57724							111.0	105.0	106.0					18																	43532399		1922	4138	6060	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43532399G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1219C>T	18.37:g.43532399G>A						KIAA1632_uc002lbo.1_Silent_p.L407L	p.L407L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			3	1319	-			407					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.1219C>T	CCDS11926.2																																																																																				PASS	0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		4	73	4	73	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59854962	59854962	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:59854962C>A	ENST00000398130.2	+	1	456	c.224C>A	c.(223-225)gCg>gAg	p.A75E	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A75E|PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000357637.5_5'Flank|PIGN_ENST00000593225.1_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	75								p.A75E(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCTGGGGAGGCGTCGGCGGCT	0.677																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(223-225)GCG>GAG		hypothetical protein LOC57614							14.0	18.0	17.0					18																	59854962		1903	4111	6014	SO:0001583	missense	57614						binding	g.chr18:59854962C>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.224C>A	18.37:g.59854962C>A	ENSP00000381198:p.Ala75Glu					PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Missense_Mutation_p.A75E|KIAA1468_uc010xel.1_Missense_Mutation_p.A75E	p.A75E	NM_020854	NP_065905	Q9P260	K1468_HUMAN			1	439	+		Colorectal(73;0.186)	75						Missense_Mutation	SNP	ENST00000398130.2	37	c.224C>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194254	0.38806	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.45276	0.9;0.9	5.03	0.66	0.17868	.	0.283285	0.25509	U	0.030183	T	0.19604	0.0471	N	0.14661	0.345	0.20638	N	0.999871	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.15235	-1.0444	9	.	.	.	1.6558	5.7177	0.17970	0.1202:0.63:0.1068:0.143	.	75;75	Q9P260-2;Q9P260	.;K1468_HUMAN	E	75	ENSP00000381198:A75E;ENSP00000256858:A75E	.	A	+	2	0	KIAA1468	58005942	0.888000	0.30383	0.117000	0.21633	0.871000	0.50021	0.159000	0.16442	0.251000	0.21505	0.655000	0.94253	GCG		PASS	0.677	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		4	100	4	100	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752543	76752543	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr18:76752543C>T	ENST00000537592.2	+	2	552	c.552C>T	c.(550-552)ggC>ggT	p.G184G	SALL3_ENST00000536229.3_Silent_p.G51G|SALL3_ENST00000575389.2_Silent_p.G184G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	184					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G184G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCTCGCAGGGCGCGCGCGCGG	0.726																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(550-552)GGC>GGT		sal-like 3							3.0	4.0	4.0					18																	76752543		1780	3531	5311	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752543C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.552C>T	18.37:g.76752543C>T						SALL3_uc010dra.2_5'Flank	p.G184G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	552	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	184					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.552C>T	CCDS12013.1																																																																																				PASS	0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	1	6	1	---	---	---	---
AES	166	broad.mit.edu	37	19	3061200	3061200	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:3061200C>T	ENST00000327141.4	-	2	439	c.83G>A	c.(82-84)cGc>cAc	p.R28H	AES_ENST00000586839.1_5'UTR|AES_ENST00000221561.8_Missense_Mutation_p.R95H|AES_ENST00000592330.1_5'UTR	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	28	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R95H(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTTGATGCGGTCGCAGGA	0.622																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CGC>CAC		amino-terminal enhancer of split isoform b							178.0	172.0	174.0					19																	3061200		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3061200C>T	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.83G>A	19.37:g.3061200C>T	ENSP00000317537:p.Arg28His					AES_uc002lwz.1_Missense_Mutation_p.R28H|AES_uc002lxa.1_5'UTR|AES_uc002lxb.1_Missense_Mutation_p.R95H|AES_uc002lxc.2_Missense_Mutation_p.R95H	p.R28H	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	256	-		Hepatocellular(1079;0.137)	28			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.83G>A	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060225	0.93846	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.61274	0.12;0.25	4.6	4.6	0.57074	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	U	0.000000	T	0.74390	0.3710	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78081	-0.2343	10	0.72032	D	0.01	.	14.9093	0.70743	0.0:1.0:0.0:0.0	.	95;28	Q14CJ1;Q08117	.;AES_HUMAN	H	95;28	ENSP00000221561:R95H;ENSP00000317537:R28H	ENSP00000221561:R95H	R	-	2	0	AES	3012200	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	5.334000	0.65923	2.091000	0.63221	0.643000	0.83706	CGC		PASS	0.622	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		6	605	6	605	---	---	---	---
DPP9	91039	broad.mit.edu	37	19	4676589	4676589	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:4676589T>A	ENST00000598800.1	-	23	3084	c.2579A>T	c.(2578-2580)cAg>cTg	p.Q860L	DPP9_ENST00000262960.9_Missense_Mutation_p.Q889L|DPP9_ENST00000594671.1_Splice_Site|AC005594.3_ENST00000381796.1_RNA			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	860						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.Q968L(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GAGGTATTCCTGTAGAAAGTG	0.637																																						uc002mba.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2665-2667)CAG>CTG		dipeptidylpeptidase 9							26.0	30.0	29.0					19																	4676589		2045	4186	6231	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4676589T>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2579A>T	19.37:g.4676589T>A	ENSP00000469603:p.Gln860Leu						p.Q889L	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	22	2924	-		Hepatocellular(1079;0.137)	860					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.2666A>T		.	.	.	.	.	.	.	.	.	.	T	27.5	4.835557	0.91117	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.42131	0.98	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33954	-0.9848	10	0.25106	T	0.35	-19.3599	12.9884	0.58604	0.0:0.0:0.0:1.0	.	889	Q1ZZB8	.	L	968;830;889	ENSP00000262960:Q889L	ENSP00000262960:Q889L	Q	-	2	0	DPP9	4627589	1.000000	0.71417	0.319000	0.25293	0.952000	0.60782	7.935000	0.87658	1.726000	0.51525	0.459000	0.35465	CAG		PASS	0.637	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			20	3	20	3	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5727292	5727292	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:5727292T>A	ENST00000381624.3	+	3	201	c.140T>A	c.(139-141)tTt>tAt	p.F47Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	47					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F47Y(1)									CGCCTGTATTTTCATCCTACA	0.323																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(139-141)TTT>TAT		transmembrane protein 146 precursor							105.0	98.0	100.0					19																	5727292		1819	4067	5886	SO:0001583	missense	257062					integral to membrane		g.chr19:5727292T>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.140T>A	19.37:g.5727292T>A	ENSP00000371037:p.Phe47Tyr					TMEM146_uc010duj.1_5'UTR	p.F47Y	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			3	201	+			47			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.140T>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	T	6.308	0.424891	0.11987	.	.	ENSG00000174898	ENST00000381624	T	0.22743	1.94	3.0	0.837	0.18896	.	.	.	.	.	T	0.12390	0.0301	L	0.39898	1.24	0.19300	N	0.999971	B	0.27229	0.172	B	0.20955	0.032	T	0.33240	-0.9876	9	0.17832	T	0.49	.	2.5015	0.04635	0.2332:0.1337:0.0:0.6331	.	47	Q86XM0	TM146_HUMAN	Y	47	ENSP00000371037:F47Y	ENSP00000371037:F47Y	F	+	2	0	TMEM146	5678292	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.513000	0.06305	0.103000	0.17682	0.383000	0.25322	TTT		PASS	0.323	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		4	95	4	95	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8670179	8670179	+	Silent	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:8670179C>A	ENST00000597188.1	-	4	423	c.153G>T	c.(151-153)ggG>ggT	p.G51G	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.G51G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	51						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G51G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCAGCAGTGCCCCGTTGTGGT	0.682																																						uc002mkj.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(2)	4						c.(151-153)GGG>GGT		ADAM metallopeptidase with thrombospondin type 1							26.0	22.0	23.0					19																	8670179		2203	4299	6502	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670179C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.153G>T	19.37:g.8670179C>A						ADAMTS10_uc002mkk.1_5'UTR	p.G51G	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			4	427	-			51					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.153G>T	CCDS12206.1																																																																																				PASS	0.682	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		38	7	38	7	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578088	9578088	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:9578088C>A	ENST00000301480.4	-	10	1748	c.1535G>T	c.(1534-1536)gGt>gTt	p.G512V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G512V(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGGCTTCTCACCAGTGTGAGT	0.413																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1534-1536)GGT>GTT		zinc finger protein 560							107.0	112.0	110.0					19																	9578088		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578088C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1535G>T	19.37:g.9578088C>A	ENSP00000301480:p.Gly512Val					ZNF560_uc010dwr.1_Missense_Mutation_p.G406V	p.G512V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1745	-			512					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1535G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141058	0.56936	.	.	ENSG00000198028	ENST00000301480	T	0.23552	1.9	2.05	2.05	0.26809	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42539	0.1207	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.40887	-0.9539	9	0.87932	D	0	.	10.1291	0.42667	0.0:1.0:0.0:0.0	.	512	Q96MR9	ZN560_HUMAN	V	512	ENSP00000301480:G512V	ENSP00000301480:G512V	G	-	2	0	ZNF560	9439088	0.016000	0.18221	0.019000	0.16419	0.146000	0.21551	2.221000	0.42917	1.446000	0.47643	0.491000	0.48974	GGT		PASS	0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		20	10	20	10	---	---	---	---
DAND5	199699	broad.mit.edu	37	19	13084213	13084213	+	Missense_Mutation	SNP	G	G	T	rs576727348		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:13084213G>T	ENST00000317060.2	+	2	514	c.335G>T	c.(334-336)cGg>cTg	p.R112L	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	112	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.R112L(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTGTTCTCCCGGCCCGGCTGC	0.622																																						uc002mwc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)CGG>CTG		dante precursor							84.0	83.0	84.0					19																	13084213		2203	4300	6503	SO:0001583	missense	199699					extracellular region		g.chr19:13084213G>T	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.335G>T	19.37:g.13084213G>T	ENSP00000323155:p.Arg112Leu					DAND5_uc010dyz.1_3'UTR	p.R112L	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)		2	378	+			112			CTCK.			Missense_Mutation	SNP	ENST00000317060.2	37	c.335G>T	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643139	0.14451	.	.	ENSG00000179284	ENST00000317060	T	0.30182	1.54	5.94	1.33	0.21861	DAN (1);	0.739627	0.11567	N	0.551209	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	1	P	0.39094	0.659	B	0.32928	0.155	T	0.16070	-1.0415	10	0.14252	T	0.57	-11.0784	4.4983	0.11851	0.2523:0.0:0.5956:0.1521	.	112	Q8N907	DAND5_HUMAN	L	112	ENSP00000323155:R112L	ENSP00000323155:R112L	R	+	2	0	DAND5	12945213	0.047000	0.20315	0.000000	0.03702	0.136000	0.21042	0.414000	0.21164	0.091000	0.17302	0.655000	0.94253	CGG		PASS	0.622	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		143	63	143	63	---	---	---	---
DNAJB1	3337	broad.mit.edu	37	19	14629017	14629017	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:14629017C>A	ENST00000254322.2	-	1	215	c.145G>T	c.(145-147)Gct>Tct	p.A49S	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	49	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.A49S(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TAGGCCTCAGCGATCTCCTTG	0.692																																						uc002myz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GCT>TCT		DnaJ (Hsp40) homolog, subfamily B, member 1							53.0	36.0	41.0					19																	14629017		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14629017C>A	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.145G>T	19.37:g.14629017C>A	ENSP00000254322:p.Ala49Ser					DNAJB1_uc010xnr.1_Intron	p.A49S	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	1	185	-			49			J.		B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.145G>T	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	N	35	5.522177	0.96416	.	.	ENSG00000132002	ENST00000254322	T	0.27557	1.66	5.05	5.05	0.67936	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	N	0.11255	0.115	0.80722	D	1	B	0.21381	0.055	B	0.36534	0.227	T	0.16188	-1.0411	10	0.46703	T	0.11	.	15.9412	0.79756	0.0:1.0:0.0:0.0	.	49	P25685	DNJB1_HUMAN	S	49	ENSP00000254322:A49S	ENSP00000254322:A49S	A	-	1	0	DNAJB1	14490017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.653000	0.61462	2.366000	0.80165	0.478000	0.44815	GCT		PASS	0.692	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		4	46	4	46	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476369	17476369	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:17476369G>C	ENST00000252590.4	-	3	966	c.905C>G	c.(904-906)tCa>tGa	p.S302*	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	302					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S302*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGGAGGTCTGAGTTCTCGCG	0.672																																						uc002ngk.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(904-906)TCA>TGA		plasmalemma vesicle associated protein							35.0	32.0	33.0					19																	17476369		2203	4300	6503	SO:0001587	stop_gained	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476369G>C	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.905C>G	19.37:g.17476369G>C	ENSP00000252590:p.Ser302*						p.S302*	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	955	-			302			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Nonsense_Mutation	SNP	ENST00000252590.4	37	c.905C>G	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776622	0.90195	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.42	-1.2	0.09554	.	1.175880	0.06002	N	0.648040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.0503	8.3347	0.32208	0.0:0.2631:0.3318:0.4051	.	.	.	.	X	302	.	ENSP00000252590:S302X	S	-	2	0	PLVAP	17337369	0.001000	0.12720	0.000000	0.03702	0.767000	0.43475	0.309000	0.19332	-0.306000	0.08818	0.462000	0.41574	TCA		PASS	0.672	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		4	104	4	104	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476431	17476432	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:17476431_17476432GG>AA	ENST00000252590.4	-	3	903_904	c.842_843CC>TT	c.(841-843)tCC>tTT	p.S281F	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	281					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S281F(2)|p.S281S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCCACCTTGGAGCTCATGAG	0.653																																						uc002ngk.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(841-843)TCC>TCT|c.(841-843)TCC>TTC		plasmalemma vesicle associated protein																																				SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476431G>A|g.chr19:17476432G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.842_843delinsAA	19.37:g.17476431_17476432delinsAA	ENSP00000252590:p.Ser281Phe						p.S281S|p.S281F	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	893|892	-			281			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent|Missense_Mutation	SNP	ENST00000252590.4	37	c.843C>T|c.842C>T	CCDS32952.1																																																																																				PASS	0.653	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		52|53	159|161	52	159	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476337	21476337	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:21476337C>G	ENST00000356929.3	-	4	1628	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K477N(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTCTTCACACTTATAGGGTT	0.333																																						uc002npq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(1429-1431)AAG>AAC		zinc finger protein 708							34.0	38.0	37.0					19																	21476337		2198	4294	6492	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476337C>G	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1431G>C	19.37:g.21476337C>G	ENSP00000349401:p.Lys477Asn					ZNF708_uc002npr.1_Missense_Mutation_p.K413N|ZNF708_uc010ecs.1_Missense_Mutation_p.K413N	p.K477N	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1629	-			477			C2H2-type 13.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1431G>C	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	4.153	0.026731	0.08054	.	.	ENSG00000182141	ENST00000356929	T	0.58060	0.36	1.05	-0.332	0.12675	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60196	0.2250	L	0.60845	1.875	0.09310	N	0.999998	D	0.69078	0.997	D	0.66084	0.941	T	0.56214	-0.8016	9	0.87932	D	0	.	3.7055	0.08398	0.0:0.1936:0.203:0.6034	.	477	P17019	ZN708_HUMAN	N	477	ENSP00000349401:K477N	ENSP00000349401:K477N	K	-	3	2	ZNF708	21268177	0.000000	0.05858	0.205000	0.23548	0.183000	0.23260	-5.923000	0.00090	-2.011000	0.00952	-2.030000	0.00424	AAG		PASS	0.333	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		3	32	3	32	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910173	21910173	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:21910173A>T	ENST00000358296.6	-	5	1139	c.941T>A	c.(940-942)gTg>gAg	p.V314E	ZNF100_ENST00000305570.6_Missense_Mutation_p.V250E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V314E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGGGTTTCACTCCAGTATG	0.388																																						uc002nqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GTG>GAG		zinc finger protein 100							50.0	53.0	52.0					19																	21910173		2191	4293	6484	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910173A>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.941T>A	19.37:g.21910173A>T	ENSP00000351042:p.Val314Glu					ZNF100_uc002nqh.2_Missense_Mutation_p.V250E	p.V314E	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1140	-			314					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.941T>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.834894	0.00069	.	.	ENSG00000197020	ENST00000358296	T	0.11063	2.81	0.907	-1.81	0.07882	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01695	0.0054	N	0.00278	-1.715	0.27588	N	0.94937	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39121	-0.9629	9	0.02654	T	1	.	4.6437	0.12561	0.5025:0.0:0.0:0.4975	.	314;368	Q8IYN0;Q4G131	ZN100_HUMAN;.	E	314	ENSP00000351042:V314E	ENSP00000351042:V314E	V	-	2	0	ZNF100	21702013	0.555000	0.26530	0.313000	0.25210	0.312000	0.27988	1.572000	0.36461	-1.003000	0.03425	-1.071000	0.02255	GTG		PASS	0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	59	5	59	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154747	22154747	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:22154747T>A	ENST00000397126.4	-	4	3237	c.3089A>T	c.(3088-3090)aAa>aTa	p.K1030I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1030					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K902I(2)|p.K1030I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTCACATTTGTAGGGTGT	0.428																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2704-2706)AAA>ATA		zinc finger protein 208							88.0	96.0	93.0					19																	22154747		2133	4254	6387	SO:0001583	missense	7757							g.chr19:22154747T>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3089A>T	19.37:g.22154747T>A	ENSP00000380315:p.Lys1030Ile					ZNF208_uc002nqo.1_Intron	p.K902I	NM_007153	NP_009084					6	2854	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2705A>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959859	0.34565	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.20881	2.04	2.58	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	1	B	0.26672	0.156	B	0.33196	0.159	T	0.33266	-0.9875	8	0.51188	T	0.08	.	3.7234	0.08465	0.2181:0.0:0.2239:0.5581	.	902	O43345	ZN208_HUMAN	I	1030;902	ENSP00000380315:K1030I	ENSP00000380315:K1030I	K	-	2	0	ZNF208	21946587	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-2.148000	0.01292	-0.036000	0.13669	0.240000	0.17902	AAA		PASS	0.428	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	49	7	49	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22256289	22256289	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:22256289C>A	ENST00000594947.1	+	3	293	c.149C>A	c.(148-150)cCa>cAa	p.P50Q	ZNF257_ENST00000600162.1_Missense_Mutation_p.P50Q	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P50Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCTCTAAGCCAGACCTGATC	0.413																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CCA>CAA		zinc finger protein 257							130.0	144.0	139.0					19																	22256289		2203	4300	6503	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22256289C>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.149C>A	19.37:g.22256289C>A	ENSP00000470209:p.Pro50Gln					ZNF257_uc010ecy.2_Missense_Mutation_p.P18Q	p.P50Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	318	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	50			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.149C>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791987	0.16258	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (3);	.	.	.	.	T	0.40171	0.1106	M	0.76574	2.34	0.18873	N	0.999987	P	0.39060	0.657	B	0.38921	0.285	T	0.34850	-0.9812	8	0.62326	D	0.03	.	4.9378	0.13950	0.0:1.0:0.0:0.0	.	50	Q9Y2Q1	ZN257_HUMAN	Q	50	.	ENSP00000380312:P50Q	P	+	2	0	ZNF257	22048129	0.373000	0.25073	0.277000	0.24703	0.278000	0.26855	1.323000	0.33701	0.300000	0.22699	0.306000	0.20318	CCA		PASS	0.413	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			16	109	16	109	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210539	37210540	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:37210539_37210540GG>TT	ENST00000536254.2	+	6	1135_1136	c.913_914GG>TT	c.(913-915)GGa>TTa	p.G305L	ZNF567_ENST00000585696.1_Missense_Mutation_p.G274L|ZNF567_ENST00000392163.2_Missense_Mutation_p.G274L|ZNF567_ENST00000588311.1_Missense_Mutation_p.G274L|ZNF567_ENST00000360729.4_Missense_Mutation_p.G274L|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G274*(1)|p.G274V(1)|p.G274L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACTCACACAGGAGAGAAACCC	0.416																																						uc010xtl.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(913-915)GGA>TGA|c.(913-915)GGA>GTA		zinc finger protein 567																																				SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210539G>T|g.chr19:37210540G>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		Exception_encountered	19.37:g.37210539_37210540delinsTT	ENSP00000441838:p.Gly305Leu					ZNF567_uc002oeo.1_Nonsense_Mutation_p.G305*|ZNF567_uc010xtk.1_Nonsense_Mutation_p.G305*|ZNF567_uc002oep.3_Nonsense_Mutation_p.G274*|ZNF567_uc002oeq.1_Nonsense_Mutation_p.G274*|ZNF567_uc002oeo.1_Missense_Mutation_p.G305V|ZNF567_uc010xtk.1_Missense_Mutation_p.G305V|ZNF567_uc002oep.3_Missense_Mutation_p.G274V|ZNF567_uc002oeq.1_Missense_Mutation_p.G274V	p.G305*|p.G305V	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1135|1136	+	Esophageal squamous(110;0.198)		305					B3KX49|Q6N044	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000536254.2	37	c.913G>T|c.914G>T																																																																																					PASS	0.416	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		5	8	5	8	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40319211	40319211	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:40319211C>T	ENST00000593685.1	-	6	1001	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	DYRK1B_ENST00000348817.3_Missense_Mutation_p.R178Q|DYRK1B_ENST00000430012.2_Missense_Mutation_p.R178Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.R178Q|DYRK1B_ENST00000323039.5_Missense_Mutation_p.R178Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.R178Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATGAAGTGCCGCTTCAGGTG	0.587																																						uc002omj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(532-534)CGG>CAG		dual-specificity tyrosine-(Y)-phosphorylation							54.0	50.0	52.0					19																	40319211		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319211C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.533G>A	19.37:g.40319211C>T	ENSP00000469863:p.Arg178Gln					DYRK1B_uc002omi.2_Missense_Mutation_p.R178Q|DYRK1B_uc002omk.2_Missense_Mutation_p.R178Q	p.R178Q	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	813	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		178			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.533G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336767	0.81801	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.19938	2.11;2.11;2.11	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.29908	0.895	0.80722	D	1	P;P;P	0.47191	0.763;0.891;0.763	B;B;B	0.41666	0.254;0.363;0.355	T	0.01252	-1.1405	10	0.31617	T	0.26	.	17.337	0.87285	0.0:1.0:0.0:0.0	.	178;178;178	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Q	178	ENSP00000312789:R178Q;ENSP00000221803:R178Q;ENSP00000403182:R178Q	ENSP00000312789:R178Q	R	-	2	0	DYRK1B	45011051	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.796000	0.85898	2.692000	0.91855	0.491000	0.48974	CGG		PASS	0.587	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		12	365	12	365	---	---	---	---
AXL	558	broad.mit.edu	37	19	41726703	41726703	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:41726703A>G	ENST00000301178.4	+	2	438	c.248A>G	c.(247-249)cAg>cGg	p.Q83R	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.Q83R	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	83	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q83R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GACAGCACCCAGACCCAGGTG	0.632																																						uc010ehj.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(247-249)CAG>CGG		AXL receptor tyrosine kinase isoform 1							62.0	58.0	59.0					19																	41726703		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726703A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.248A>G	19.37:g.41726703A>G	ENSP00000301178:p.Gln83Arg					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.Q83R|AXL_uc010ehk.2_Missense_Mutation_p.Q83R	p.Q83R	NM_021913	NP_068713	P30530	UFO_HUMAN			2	438	+			83			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.248A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495917	0.64186	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.63913	-0.07;-0.07	4.54	4.54	0.55810	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	L	0.49571	1.57	0.39088	D	0.96104	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71300	-0.4634	10	0.33940	T	0.23	-20.3424	11.5416	0.50669	1.0:0.0:0.0:0.0	.	83;83	P30530-2;P30530	.;UFO_HUMAN	R	83	ENSP00000301178:Q83R;ENSP00000351995:Q83R	ENSP00000301178:Q83R	Q	+	2	0	AXL	46418543	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	5.411000	0.66386	1.932000	0.55993	0.147000	0.16070	CAG		PASS	0.632	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			38	275	38	275	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46313932	46313932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:46313932C>A	ENST00000221538.3	-	2	959	c.817G>T	c.(817-819)Gag>Tag	p.E273*	RSPH6A_ENST00000597055.1_Nonsense_Mutation_p.E273*|RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E9*	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	273						intracellular (GO:0005622)		p.E273*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TTCTGTTTCTCCGCCATCTTG	0.632																																						uc002pdm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(817-819)GAG>TAG		radial spokehead-like 1							127.0	111.0	117.0					19																	46313932		2203	4300	6503	SO:0001587	stop_gained	81492					intracellular		g.chr19:46313932C>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.817G>T	19.37:g.46313932C>A	ENSP00000221538:p.Glu273*					RSPH6A_uc002pdl.2_Nonsense_Mutation_p.E9*	p.E273*	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			2	960	-			273					Q53FE2|Q6PEZ9	Nonsense_Mutation	SNP	ENST00000221538.3	37	c.817G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	37	6.616879	0.97709	.	.	ENSG00000104941	ENST00000221538	.	.	.	4.82	4.82	0.62117	.	0.051752	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8246	15.8574	0.78989	0.0:1.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000221538:E273X	E	-	1	0	RSPH6A	51005772	0.996000	0.38824	0.954000	0.39281	0.799000	0.45148	3.542000	0.53625	2.689000	0.91719	0.650000	0.86243	GAG		PASS	0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			170	399	170	399	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50548547	50548547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:50548547C>T	ENST00000595661.1	+	6	1342	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q283*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q283*|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q271*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	283					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q283*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCTGTGGCATCAGAAAACTCA	0.438																																						uc002prn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(847-849)CAG>TAG		zinc finger protein 473							91.0	94.0	93.0					19																	50548547		2203	4300	6503	SO:0001587	stop_gained	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548547C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.847C>T	19.37:g.50548547C>T	ENSP00000472808:p.Gln283*					ZNF473_uc002prm.2_Nonsense_Mutation_p.Q283*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.Q271*	p.Q283*	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1084	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	283			C2H2-type 2; degenerate.		A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	c.847C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	37	6.348581	0.97494	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.06	4.06	0.47325	.	0.000000	0.40908	D	0.000982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.3304	14.5323	0.67934	0.0:1.0:0.0:0.0	.	.	.	.	X	283;283;271	.	ENSP00000270617:Q283X	Q	+	1	0	ZNF473	55240359	0.000000	0.05858	1.000000	0.80357	0.629000	0.37895	-0.211000	0.09332	2.553000	0.86117	0.655000	0.94253	CAG		PASS	0.438	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		39	135	39	135	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272372	52272372	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:52272372T>C	ENST00000598776.1	+	2	1233	c.461T>C	c.(460-462)cTa>cCa	p.L154P	FPR2_ENST00000598953.1_Missense_Mutation_p.L154P|FPR2_ENST00000340023.6_Missense_Mutation_p.L154P	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	154					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.L154P(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATTCTTGCTCTAGTCCTTACC	0.512																																						uc002pxr.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(460-462)CTA>CCA		formyl peptide receptor-like 1							141.0	128.0	132.0					19																	52272372		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272372T>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.461T>C	19.37:g.52272372T>C	ENSP00000468897:p.Leu154Pro					FPR2_uc002pxs.3_Missense_Mutation_p.L154P|FPR2_uc010epf.2_Missense_Mutation_p.L154P	p.L154P	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	506	+			154			Helical; Name=4; (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.461T>C	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	17.81	3.481777	0.63849	.	.	ENSG00000171049	ENST00000340023	T	0.46063	0.88	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.786745	0.11204	U	0.588473	T	0.73644	0.3613	H	0.95850	3.73	0.80722	D	1	D	0.61080	0.989	D	0.73708	0.981	T	0.76432	-0.2961	10	0.72032	D	0.01	.	10.478	0.44676	0.0:0.0:0.0:1.0	.	154	P25090	FPR2_HUMAN	P	154	ENSP00000340191:L154P	ENSP00000340191:L154P	L	+	2	0	FPR2	56964184	0.235000	0.23794	0.017000	0.16124	0.169000	0.22640	3.501000	0.53325	1.650000	0.50662	0.402000	0.26972	CTA		PASS	0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		33	182	33	182	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53086017	53086017	+	Silent	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:53086017A>C	ENST00000540331.1	+	5	1128	c.903A>C	c.(901-903)atA>atC	p.I301I	ZNF701_ENST00000301093.2_Silent_p.I301I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.I235I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I235I(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AACATCAGATAATCCATTTAG	0.393																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(703-705)ATA>ATC		zinc finger protein 701							71.0	74.0	73.0					19																	53086017		2203	4300	6503	SO:0001819	synonymous_variant	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086017A>C	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.903A>C	19.37:g.53086017A>C						ZNF701_uc010ydn.1_Silent_p.I301I	p.I235I	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	832	+			235					A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	c.705A>C	CCDS54311.1																																																																																				PASS	0.393	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		16	41	16	41	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56614508	56614508	+	Splice_Site	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr19:56614508C>A	ENST00000270459.3	-	2	197	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.G27C	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V27L(1)		central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGCTGCTCACCTGGGTTCTCG	0.642																																						uc010eth.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(79-81)GTG>TTG		zinc finger protein 787							43.0	51.0	49.0					19																	56614508		1994	4168	6162	SO:0001630	splice_region_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614508C>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.79+1G>T	19.37:g.56614508C>A						ZNF787_uc002qml.1_Missense_Mutation_p.G27C	p.V27L	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	2	198	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	27					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.79G>T	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530646	0.27387	.	.	ENSG00000142409	ENST00000270459	T	0.05855	3.38	3.15	3.15	0.36227	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.26579	N	0.973417	B	0.18741	0.03	B	0.10450	0.005	T	0.38757	-0.9646	8	.	.	.	-27.3299	10.0497	0.42208	0.0:1.0:0.0:0.0	.	27	Q6DD87	ZN787_HUMAN	L	27	ENSP00000270459:V27L	.	V	-	1	0	ZNF787	61306320	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	2.552000	0.45828	2.086000	0.62901	0.462000	0.41574	GTG		PASS	0.642	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	Missense_Mutation	85	98	85	98	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3543854	3543854	+	Splice_Site	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:3543854A>G	ENST00000262919.5	+	10	1699		c.e10-1		ATRN_ENST00000446916.2_Splice_Site	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin						cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TAAACTCAAAAGGACCATTCT	0.368																																						uc002wim.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e10-2		attractin isoform 1							112.0	100.0	104.0					20																	3543854		2203	4300	6503	SO:0001630	splice_region_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543854A>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1632-1A>G	20.37:g.3543854A>G						ATRN_uc002wil.2_Splice_Site_p.W544_splice	p.W544_splice	NM_139321	NP_647537	O75882	ATRN_HUMAN			10	1722	+								A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Splice_Site	SNP	ENST00000262919.5	37	c.1632_splice	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485343	0.84854	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.109	0.72340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRN	3491854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.983000	0.93477	2.241000	0.73720	0.482000	0.46254	.		PASS	0.368	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	Intron	8	29	8	29	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20180414	20180414	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:20180414C>G	ENST00000245957.5	+	17	1876	c.1800C>G	c.(1798-1800)ttC>ttG	p.F600L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		600								p.F600L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTTCAGTTCCAGAACCCCT	0.473																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1798-1800)TTC>TTG		hypothetical protein LOC26074							126.0	116.0	119.0					20																	20180414		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180414C>G																												ENST00000245957.5:c.1800C>G	20.37:g.20180414C>G	ENSP00000245957:p.Phe600Leu					C20orf26_uc010zse.1_Missense_Mutation_p.F580L	p.F600L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1876	+			600					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1800C>G	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.423|6.423	0.446128|0.446128	0.12164|0.12164	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.42513|.	0.97|.	5.57|5.57	0.772|0.772	0.18510|0.18510	.|.	0.322809|.	0.30356|.	N|.	0.009806|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.03993|0.03993	-1.0986|-1.0986	10|5	0.12430|.	T|.	0.62|.	.|.	6.2025|6.2025	0.20583|0.20583	0.0:0.4765:0.2586:0.2648|0.0:0.4765:0.2586:0.2648	.|.	580;600|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	L|C	540;168;580;600|140	ENSP00000245957:F600L|.	ENSP00000245957:F600L|.	F|S	+|+	3|2	2|0	C20orf26|C20orf26	20128414|20128414	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	0.269000|0.269000	0.18589|0.18589	0.278000|0.278000	0.22164|0.22164	0.563000|0.563000	0.77884|0.77884	TTC|TCC		PASS	0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			8	681	8	681	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30064411	30064411	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:30064411C>T	ENST00000201979.2	+	2	456	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	55					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.P55S(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCTCAACCCTCCCACCCAGAA	0.627																																						uc002wwa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(163-165)CCC>TCC		RAS-like GTP-binding protein REM							77.0	74.0	75.0					20																	30064411		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064411C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.163C>T	20.37:g.30064411C>T	ENSP00000201979:p.Pro55Ser						p.P55S	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	447	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		55					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.163C>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972970	0.34848	.	.	ENSG00000088320	ENST00000201979	T	0.65549	-0.16	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000002	T	0.43942	0.1270	L	0.29908	0.895	0.37361	D	0.911231	P	0.40875	0.731	B	0.34093	0.175	T	0.51148	-0.8742	10	0.33141	T	0.24	.	9.9249	0.41485	0.0:0.9068:0.0:0.0932	.	55	O75628	REM1_HUMAN	S	55	ENSP00000201979:P55S	ENSP00000201979:P55S	P	+	1	0	REM1	29528072	0.997000	0.39634	0.995000	0.50966	0.811000	0.45836	3.213000	0.51153	2.396000	0.81511	0.563000	0.77884	CCC		PASS	0.627	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		115	363	115	363	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33370010	33370010	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:33370010A>G	ENST00000374796.2	-	4	2719	c.149T>C	c.(148-150)gTg>gCg	p.V50A	NCOA6_ENST00000359003.2_Missense_Mutation_p.V50A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	50	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.V50A(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTGAAGGCCACAAAAATTGT	0.338																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(148-150)GTG>GCG		nuclear receptor coactivator 6							54.0	51.0	52.0					20																	33370010		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33370010A>G	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.149T>C	20.37:g.33370010A>G	ENSP00000363929:p.Val50Ala					NCOA6_uc002xaw.2_Missense_Mutation_p.V50A|NCOA6_uc010gew.1_Missense_Mutation_p.V50A	p.V50A	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2720	-			50			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.149T>C	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990952	0.74703	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.38560	1.13;1.13	5.84	5.84	0.93424	.	0.111018	0.40064	N	0.001198	T	0.41834	0.1176	L	0.59436	1.845	0.46317	D	0.998984	B;B	0.33777	0.143;0.425	B;B	0.28916	0.075;0.096	T	0.41360	-0.9513	10	0.72032	D	0.01	-1.0524	16.2055	0.82126	1.0:0.0:0.0:0.0	.	50;50	F6M2K2;Q14686	.;NCOA6_HUMAN	A	50	ENSP00000363929:V50A;ENSP00000351894:V50A	ENSP00000351894:V50A	V	-	2	0	NCOA6	32833671	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.373000	0.90131	2.226000	0.72624	0.482000	0.46254	GTG		PASS	0.338	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	3	10	3	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36845813	36845813	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:36845813C>G	ENST00000279024.4	-	13	3014	c.2743G>C	c.(2743-2745)Ggg>Cgg	p.G915R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	915								p.G915R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCCCAGCCCCTCTGGCTGTA	0.672																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2743-2745)GGG>CGG		hypothetical protein LOC85449							30.0	26.0	28.0					20																	36845813		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36845813C>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2743G>C	20.37:g.36845813C>G	ENSP00000279024:p.Gly915Arg					KIAA1755_uc002xhv.1_5'UTR|KIAA1755_uc002xhw.1_5'UTR|KIAA1755_uc002xhx.1_Missense_Mutation_p.G193R	p.G915R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			13	3015	-		Myeloproliferative disorder(115;0.00874)	915					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2743G>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562736	0.45694	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.25085	2.96;1.82	3.17	3.17	0.36434	.	0.201919	0.24810	N	0.035415	T	0.41351	0.1155	L	0.57536	1.79	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.09335	-1.0679	10	0.26408	T	0.33	.	10.0654	0.42299	0.0:1.0:0.0:0.0	.	915;423	Q5JYT7;E9PFS1	K1755_HUMAN;.	R	915;423;214	ENSP00000279024:G915R;ENSP00000393503:G214R	ENSP00000279024:G915R	G	-	1	0	KIAA1755	36279227	0.001000	0.12720	0.019000	0.16419	0.014000	0.08584	0.407000	0.21049	2.076000	0.62316	0.561000	0.74099	GGG		PASS	0.672	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		42	77	42	77	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50221483	50221483	+	Silent	SNP	C	C	A	rs140124765		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:50221483C>A	ENST00000338821.5	-	27	3144	c.2880G>T	c.(2878-2880)tcG>tcT	p.S960S	ATP9A_ENST00000311637.5_Silent_p.S824S|ATP9A_ENST00000402822.1_Silent_p.S839S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	960					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S960S(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAGGATCAGCGAGGTGAAGG	0.597																																						uc002xwg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2878-2880)TCG>TCT		ATPase, class II, type 9A		C		0,4406		0,0,2203	95.0	65.0	75.0		2880	0.2	1.0	20	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP9A	NM_006045.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		960/1048	50221483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50221483C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2880G>T	20.37:g.50221483C>A						ATP9A_uc010gih.1_Silent_p.S824S|ATP9A_uc002xwf.1_Silent_p.S132S	p.S960S	NM_006045	NP_006036	O75110	ATP9A_HUMAN			27	2880	-			960			Helical; (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2880G>T	CCDS33489.1																																																																																				PASS	0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		4	145	4	145	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T	rs200920825		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:50407509C>T	ENST00000217086.4	-	2	1624	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	505					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G505S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.0		0.001	False		,,,				2504	0.0					uc002xwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1513-1515)GGT>AGT		sal-like 4							95.0	103.0	101.0					20																	50407509		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407509C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1513G>A	20.37:g.50407509C>T	ENSP00000217086:p.Gly505Ser					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.G505S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1614	-			505					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1513G>A	CCDS13438.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.011	-1.715745	0.00706	.	.	ENSG00000101115	ENST00000217086	T	0.08102	3.13	5.4	-8.8	0.00817	.	3.049620	0.00988	N	0.003485	T	0.03390	0.0098	N	0.05441	-0.05	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.37454	-0.9705	10	0.05959	T	0.93	0.1204	9.3015	0.37849	0.0:0.3667:0.397:0.2363	.	505	Q9UJQ4	SALL4_HUMAN	S	505	ENSP00000217086:G505S	ENSP00000217086:G505S	G	-	1	0	SALL4	49840916	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.902000	0.04088	-2.068000	0.00884	-1.300000	0.01332	GGT		PASS	0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			102	794	102	794	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54578952	54578952	+	Silent	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:54578952G>A	ENST00000064571.2	-	1	1576	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	92	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.I92I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CGAAGTAAATGATGCGCGTCT	0.652																																						uc002xxa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(274-276)ATC>ATT		cerebellin 4 precursor							199.0	204.0	203.0					20																	54578952		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54578952G>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.276C>T	20.37:g.54578952G>A							p.I92I	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1061	-			92			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.276C>T	CCDS13448.1																																																																																				PASS	0.652	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		119	799	119	799	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027547	55027547	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:55027547G>A	ENST00000360314.3	+	6	1540	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	CASS4_ENST00000371336.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	439					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V439M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGACCTGGATGTGGCCAAGGA	0.567																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1315-1317)GTG>ATG		HEF-like protein isoform a							54.0	46.0	49.0					20																	55027547		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027547G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1315G>A	20.37:g.55027547G>A	ENSP00000353462:p.Val439Met					CASS4_uc002xxq.3_Missense_Mutation_p.V439M|CASS4_uc002xxr.2_Missense_Mutation_p.V439M|CASS4_uc010zze.1_Missense_Mutation_p.V385M|CASS4_uc010gio.2_Intron	p.V439M	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1540	+			439					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1315G>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531202	0.27387	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.23348	1.91;1.91	5.6	-7.15	0.01521	Serine rich protein interaction (1);	0.835435	0.10706	N	0.643440	T	0.12178	0.0296	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26002	0.139;0.053;0.036	B;B;B	0.24541	0.054;0.009;0.016	T	0.19647	-1.0299	10	0.45353	T	0.12	0.8593	2.8529	0.05563	0.2773:0.1232:0.421:0.1784	.	385;439;439	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	M	439	ENSP00000353462:V439M;ENSP00000360387:V439M	ENSP00000353462:V439M	V	+	1	0	CASS4	54460954	0.000000	0.05858	0.003000	0.11579	0.823000	0.46562	-0.212000	0.09319	-1.279000	0.02405	-0.271000	0.10264	GTG		PASS	0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		17	46	17	46	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55033790	55033790	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr20:55033790G>C	ENST00000360314.3	+	7	2573	c.2348G>C	c.(2347-2349)gGg>gCg	p.G783A	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Missense_Mutation_p.G783A|CASS4_ENST00000434344.1_Missense_Mutation_p.G346A	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	783					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.G783A(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGTTCAGAGGGACACTGGGA	0.612																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2347-2349)GGG>GCG		HEF-like protein isoform a							69.0	47.0	54.0					20																	55033790		2202	4300	6502	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033790G>C	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2348G>C	20.37:g.55033790G>C	ENSP00000353462:p.Gly783Ala					CASS4_uc002xxr.2_Missense_Mutation_p.G783A|CASS4_uc010zze.1_Missense_Mutation_p.G729A|CASS4_uc010gio.2_Missense_Mutation_p.G346A	p.G783A	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			7	2573	+			783					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.2348G>C	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891644	0.33442	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.20881	2.04;2.04;2.04	5.79	-3.25	0.05079	CAS family, DUF3513 (1);	0.983219	0.08319	N	0.964115	T	0.15869	0.0382	L	0.55103	1.725	0.09310	N	1	B;B;B	0.27068	0.167;0.005;0.026	B;B;B	0.26864	0.074;0.006;0.038	T	0.41251	-0.9519	10	0.08381	T	0.77	-12.1557	8.4153	0.32668	0.3408:0.3774:0.2818:0.0	.	729;346;783	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	A	783;783;346	ENSP00000353462:G783A;ENSP00000360387:G783A;ENSP00000410027:G346A	ENSP00000353462:G783A	G	+	2	0	CASS4	54467197	0.001000	0.12720	0.001000	0.08648	0.310000	0.27922	-0.200000	0.09478	-0.392000	0.07751	-0.176000	0.13171	GGG		PASS	0.612	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		30	83	30	83	---	---	---	---
USP16	10600	broad.mit.edu	37	21	30403061	30403061	+	Silent	SNP	T	T	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr21:30403061T>C	ENST00000334352.4	+	4	438	c.207T>C	c.(205-207)ccT>ccC	p.P69P	USP16_ENST00000399976.2_Silent_p.P69P|USP16_ENST00000399975.3_Silent_p.P69P|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.P69P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAGAAAAGCCTTCAGTTTGGC	0.348																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(205-207)CCT>CCC		ubiquitin specific protease 16 isoform a							113.0	106.0	109.0					21																	30403061		2203	4300	6503	SO:0001819	synonymous_variant	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30403061T>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.207T>C	21.37:g.30403061T>C						USP16_uc002ymx.2_Silent_p.P69P|USP16_uc002ymw.2_Silent_p.P69P|USP16_uc011acm.1_Silent_p.P55P|USP16_uc011acn.1_Intron	p.P69P	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			3	409	+			69			UBP-type.			Silent	SNP	ENST00000334352.4	37	c.207T>C	CCDS13583.1																																																																																				PASS	0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			53	13	53	13	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47986572	47986572	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr21:47986572G>A	ENST00000417564.2	+	37	4460	c.4439G>A	c.(4438-4440)cGa>cAa	p.R1480Q	DIP2A_ENST00000318711.7_Missense_Mutation_p.R1481Q|DIP2A_ENST00000400274.1_Missense_Mutation_p.R1476Q|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1480					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R1481Q(1)|p.R1480Q(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCTGTCATCCGAGCACACAGG	0.597																																						uc002zjo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4438-4440)CGA>CAA		disco-interacting protein 2A isoform a							114.0	117.0	116.0					21																	47986572		2201	4300	6501	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47986572G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4439G>A	21.37:g.47986572G>A	ENSP00000392066:p.Arg1480Gln					DIP2A_uc011afz.1_Missense_Mutation_p.R1476Q|DIP2A_uc002zjs.2_Missense_Mutation_p.R160Q|DIP2A_uc002zjt.2_RNA	p.R1480Q	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	37	4622	+	Breast(49;0.0933)		1480					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.4439G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837239	0.97009	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.10288	2.89;2.89;2.89	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.80183	2.485	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.66602	0.945;0.923	T	0.03231	-1.1058	10	0.41790	T	0.15	-11.9042	18.425	0.90606	0.0:0.0:1.0:0.0	.	1481;1480	E9PER1;Q14689	.;DIP2A_HUMAN	Q	1476;1481;1480	ENSP00000383133:R1476Q;ENSP00000323633:R1481Q;ENSP00000392066:R1480Q	ENSP00000323633:R1481Q	R	+	2	0	DIP2A	46811000	1.000000	0.71417	0.779000	0.31741	0.982000	0.71751	9.689000	0.98673	2.599000	0.87857	0.655000	0.94253	CGA		PASS	0.597	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		63	93	63	93	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37769395	37769395	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr22:37769395C>T	ENST00000402918.2	-	3	2965	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	727					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.R727H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAAGGACACGCGCTGGCTCAG	0.647																																						uc003asq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2179-2181)CGC>CAC		leucine rich repeat containing 62							46.0	43.0	44.0					22																	37769395		2202	4300	6502	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769395C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2180G>A	22.37:g.37769395C>T	ENSP00000385277:p.Arg727His						p.R727H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2966	-	Melanoma(58;0.0574)		727			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2180G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928459	0.73327	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.56611	0.45;0.45	4.93	4.93	0.64822	.	0.120911	0.50627	D	0.000108	T	0.61578	0.2358	L	0.40543	1.245	0.43076	D	0.994727	D	0.76494	0.999	P	0.58172	0.834	T	0.66783	-0.5836	10	0.87932	D	0	-30.1403	18.1428	0.89646	0.0:1.0:0.0:0.0	.	727	Q5R3F8	PPR29_HUMAN	H	727	ENSP00000300147:R727H;ENSP00000385277:R727H	ENSP00000300147:R727H	R	-	2	0	ELFN2	36099341	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	2.180000	0.42537	2.265000	0.75225	0.561000	0.74099	CGC		PASS	0.647	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		24	167	24	167	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770239	37770239	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr22:37770239C>T	ENST00000402918.2	-	3	2121	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	446					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.D446N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCATCCACATCAGCCCCGTAG	0.632																																						uc003asq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1336-1338)GAT>AAT		leucine rich repeat containing 62							142.0	140.0	141.0					22																	37770239		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770239C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1336G>A	22.37:g.37770239C>T	ENSP00000385277:p.Asp446Asn						p.D446N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2122	-	Melanoma(58;0.0574)		446			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1336G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762356	0.31228	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.55052	0.54;0.54	4.57	4.57	0.56435	.	0.263725	0.42172	D	0.000749	T	0.46541	0.1398	L	0.44542	1.39	0.58432	D	0.999999	P	0.41041	0.736	B	0.36378	0.223	T	0.56703	-0.7935	10	0.87932	D	0	-29.8749	17.3539	0.87330	0.0:1.0:0.0:0.0	.	446	Q5R3F8	PPR29_HUMAN	N	446	ENSP00000300147:D446N;ENSP00000385277:D446N	ENSP00000300147:D446N	D	-	1	0	ELFN2	36100185	1.000000	0.71417	0.271000	0.24616	0.053000	0.15095	5.989000	0.70587	2.079000	0.62486	0.609000	0.83330	GAT		PASS	0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		124	665	124	665	---	---	---	---
PPARA	5465	broad.mit.edu	37	22	46611134	46611134	+	Silent	SNP	C	C	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr22:46611134C>T	ENST00000396000.2	+	4	538	c.273C>T	c.(271-273)gaC>gaT	p.D91D	PPARA_ENST00000262735.5_Silent_p.D91D|PPARA_ENST00000407236.1_Silent_p.D91D|PPARA_ENST00000402126.1_Silent_p.D91D|PPARA_ENST00000434345.2_Silent_p.D91D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	91					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.D91D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GCAGCGTGGACGAGTCTCCCA	0.562																																						uc003bgw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(271-273)GAC>GAT		peroxisome proliferative activated receptor,	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						82.0	70.0	74.0					22																	46611134		2203	4300	6503	SO:0001819	synonymous_variant	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46611134C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.273C>T	22.37:g.46611134C>T						PPARA_uc003bgx.1_Silent_p.D91D|PPARA_uc010hab.1_Silent_p.D91D|PPARA_uc003bha.2_Silent_p.D91D|PPARA_uc003bhb.1_Silent_p.D91D|PPARA_uc010hac.1_Translation_Start_Site	p.D91D	NM_005036	NP_005027	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	539	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	91					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	c.273C>T	CCDS33669.1																																																																																				PASS	0.562	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		32	266	32	266	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32429926	32429926	+	Missense_Mutation	SNP	C	C	A	rs372863584		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:32429926C>A	ENST00000357033.4	-	30	4382	c.4176G>T	c.(4174-4176)caG>caT	p.Q1392H	DMD_ENST00000378677.2_Missense_Mutation_p.Q1388H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1392					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q1388H(1)|p.Q1387H(1)|p.Q1392H(1)|p.Q51H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGCTGCCAACTGCTTGTCAA	0.453																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4174-4176)CAG>CAT		dystrophin Dp427m isoform							126.0	94.0	105.0					X																	32429926		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429926C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4176G>T	X.37:g.32429926C>A	ENSP00000354923:p.Gln1392His					DMD_uc004dcw.2_Missense_Mutation_p.Q48H|DMD_uc004dcx.2_Missense_Mutation_p.Q51H|DMD_uc004dcz.2_Missense_Mutation_p.Q1269H|DMD_uc004dcy.1_Missense_Mutation_p.Q1388H|DMD_uc004ddb.1_Missense_Mutation_p.Q1384H|DMD_uc010ngo.1_Intron	p.Q1392H	NM_004006	NP_003997	P11532	DMD_HUMAN			30	4420	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1392					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4176G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824725	0.32237	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.19938	2.11;2.11	5.68	5.68	0.88126	.	0.000000	0.33712	U	0.004638	T	0.15565	0.0375	N	0.25144	0.715	0.80722	D	1	B;B;B;B;B	0.26081	0.089;0.033;0.053;0.141;0.141	B;B;B;B;B	0.25614	0.062;0.014;0.028;0.028;0.028	T	0.04991	-1.0913	10	0.45353	T	0.12	.	12.2069	0.54356	0.0:0.9205:0.0:0.0795	.	1384;1392;1388;51;48	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	1384;51;48;1388;1392;1392;1269	ENSP00000367948:Q1388H;ENSP00000354923:Q1392H	ENSP00000354923:Q1392H	Q	-	3	2	DMD	32339847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.335000	0.33839	2.381000	0.81170	0.506000	0.49869	CAG		PASS	0.453	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	1	5	1	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028948	37028948	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:37028948C>G	ENST00000358047.3	+	1	2517	c.2465C>G	c.(2464-2466)tCc>tGc	p.S822C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	822								p.S822C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCGGAGCGTCCCATCTAAAA	0.542																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2464-2466)TCC>TGC		hypothetical protein LOC442444							71.0	68.0	69.0					X																	37028948		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028948C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2465C>G	X.37:g.37028948C>G	ENSP00000367913:p.Ser822Cys						p.S822C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2479	+			822					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2465C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339205	0.24253	.	.	ENSG00000198173	ENST00000358047	T	0.20332	2.08	1.01	1.01	0.19927	.	.	.	.	.	T	0.43411	0.1246	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.15780	-1.0425	9	0.87932	D	0	.	5.6514	0.17618	0.0:1.0:0.0:0.0	.	822	Q5HY64	FA47C_HUMAN	C	822	ENSP00000367913:S822C	ENSP00000367913:S822C	S	+	2	0	FAM47C	36938869	.	.	0.003000	0.11579	0.003000	0.03518	.	.	0.273000	0.22049	0.277000	0.19347	TCC		PASS	0.542	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	66	3	66	---	---	---	---
ZNF81	347344	broad.mit.edu	37	X	47775904	47775904	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:47775904C>G	ENST00000376954.1	+	6	2227	c.1859C>G	c.(1858-1860)aCt>aGt	p.T620S	ZNF81_ENST00000338637.7_Missense_Mutation_p.T620S			P51508	ZNF81_HUMAN	zinc finger protein 81	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T620S(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGCCTTCACTGATAGGTCA	0.403																																						uc010nhy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1858-1860)ACT>AGT		zinc finger protein 81							54.0	57.0	56.0					X																	47775904		2156	4272	6428	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775904C>G	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1859C>G	X.37:g.47775904C>G	ENSP00000366153:p.Thr620Ser						p.T620S	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	2227	+		all_lung(315;0.0973)	620			C2H2-type 11.		Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1859C>G	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	4.618	0.114837	0.08831	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.35236	1.32;1.32	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.159555	0.29892	N	0.010930	T	0.13030	0.0316	N	0.01686	-0.76	0.18873	N	0.999981	B	0.25563	0.129	B	0.33392	0.163	T	0.36432	-0.9748	10	0.02654	T	1	.	8.5362	0.33364	0.2296:0.7704:0.0:0.0	.	620	P51508	ZNF81_HUMAN	S	620	ENSP00000366153:T620S;ENSP00000341151:T620S	ENSP00000341151:T620S	T	+	2	0	ZNF81	47660848	0.000000	0.05858	0.999000	0.59377	0.963000	0.63663	-1.362000	0.02595	2.353000	0.79882	0.513000	0.50165	ACT		PASS	0.403	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		2	3	2	3	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54783731	54783731	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:54783731G>T	ENST00000218436.6	-	8	2805	c.2776C>A	c.(2776-2778)Ccc>Acc	p.P926T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	926	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P926T(1)									ATGGGGAGGGGTTCTCCAAGG	0.577																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2776-2778)CCC>ACC		inter-alpha (globulin) inhibitor H5-like							79.0	71.0	74.0					X																	54783731		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783731G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2776C>A	X.37:g.54783731G>T	ENSP00000218436:p.Pro926Thr						p.P926T	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2806	-			926			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2776C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631196	0.14322	.	.	ENSG00000102313	ENST00000218436	T	0.02498	4.27	3.54	2.56	0.30785	.	0.000000	0.64402	U	0.000005	T	0.02342	0.0072	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	B	0.43838	0.433	T	0.49688	-0.8913	10	0.48119	T	0.1	.	7.561	0.27851	0.0:0.2612:0.7388:0.0	.	926	Q6UXX5	ITH5L_HUMAN	T	926	ENSP00000218436:P926T	ENSP00000218436:P926T	P	-	1	0	ITIH5L	54800456	0.007000	0.16637	0.212000	0.23672	0.140000	0.21249	-0.371000	0.07513	1.513000	0.48852	0.506000	0.49869	CCC		PASS	0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		33	286	33	286	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70612494	70612494	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:70612494G>A	ENST00000373790.4	+	19	2905	c.2854G>A	c.(2854-2856)Ggg>Agg	p.G952R	TAF1_ENST00000276072.3_Missense_Mutation_p.G973R|TAF1_ENST00000449580.1_Missense_Mutation_p.G952R|TAF1_ENST00000423759.1_Missense_Mutation_p.G973R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	952	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G952R(1)|p.G973R(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGAGGTGACTGGGGTGGCAGA	0.483																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2854-2856)GGG>AGG		TBP-associated factor 1 isoform 2							84.0	74.0	77.0					X																	70612494		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70612494G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2854G>A	X.37:g.70612494G>A	ENSP00000362895:p.Gly952Arg					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G973R|TAF1_uc004dzv.3_Missense_Mutation_p.G126R	p.G952R	NM_138923	NP_620278	P21675	TAF1_HUMAN			19	2905	+	Renal(35;0.156)	all_lung(315;0.000321)	952					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2854G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.798758	0.90538	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.81	4.81	0.61882	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.103986	0.64402	D	0.000003	T	0.77864	0.4194	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85452	0.1161	10	0.87932	D	0	.	17.3645	0.87359	0.0:0.0:1.0:0.0	.	952;952;973	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	R	952;952;973;973	ENSP00000362895:G952R;ENSP00000389000:G952R;ENSP00000406549:G973R;ENSP00000276072:G973R	ENSP00000276072:G973R	G	+	1	0	TAF1	70529219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.412000	0.97347	2.112000	0.64535	0.544000	0.68410	GGG		PASS	0.483	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		15	28	15	28	---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100809045	100809045	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:100809045A>G	ENST00000372829.3	+	4	1503	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	378						integral component of membrane (GO:0016021)		p.N378D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TTCCCTCTTTAATAAAGAATG	0.333																																						uc004ehv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1132-1134)AAT>GAT		armadillo repeat containing, X-linked 1							49.0	47.0	48.0					X																	100809045		2203	4299	6502	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100809045A>G	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.1132A>G	X.37:g.100809045A>G	ENSP00000361917:p.Asn378Asp					ARMCX1_uc004ehw.2_Missense_Mutation_p.N378D	p.N378D	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN			4	1503	+			378			ARM 3.		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.1132A>G	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	10.96	1.499175	0.26861	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.29397	1.57	3.2	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.102447	0.64402	D	0.000005	T	0.15435	0.0372	N	0.11131	0.1	0.28527	N	0.912754	B	0.27140	0.169	B	0.34038	0.174	T	0.20672	-1.0268	10	0.17369	T	0.5	-15.6825	7.1493	0.25601	1.0:0.0:0.0:0.0	.	378	Q9P291	ARMX1_HUMAN	D	378;83	ENSP00000361917:N378D	ENSP00000361917:N378D	N	+	1	0	ARMCX1	100695701	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.649000	0.46656	1.496000	0.48567	0.437000	0.28790	AAT		PASS	0.333	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		3	28	3	28	---	---	---	---
BEX4	56271	broad.mit.edu	37	X	102471403	102471403	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:102471403C>A	ENST00000372695.5	+	3	557	c.322C>A	c.(322-324)Cct>Act	p.P108T	BEX4_ENST00000372691.3_Missense_Mutation_p.P108T	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P434T(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						CTTCCAAACTCCTGAACCTGA	0.408																																						uc004ejv.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(322-324)CCT>ACT		BEX family member 4							193.0	166.0	176.0					X																	102471403		2203	4300	6503	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471403C>A	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.322C>A	X.37:g.102471403C>A	ENSP00000361780:p.Pro108Thr					BEX4_uc004ejw.3_Missense_Mutation_p.P108T	p.P108T	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN			3	557	+			108						Missense_Mutation	SNP	ENST00000372695.5	37	c.322C>A	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244115	0.39697	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.45668	0.89;0.89	3.84	3.84	0.44239	.	0.000000	0.44285	D	0.000462	T	0.51261	0.1664	L	0.46819	1.47	0.27617	N	0.948469	D	0.89917	1.0	D	0.76071	0.987	T	0.35400	-0.9790	10	0.22109	T	0.4	.	10.1759	0.42937	0.0:1.0:0.0:0.0	.	108	Q9NWD9	BEX4_HUMAN	T	108	ENSP00000361780:P108T;ENSP00000361776:P108T	ENSP00000361776:P108T	P	+	1	0	BEX4	102358059	0.773000	0.28580	0.773000	0.31616	0.965000	0.64279	1.385000	0.34408	2.156000	0.67533	0.594000	0.82650	CCT		PASS	0.408	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		221	40	221	40	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102974192	102974192	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:102974192G>C	ENST00000372617.4	-	7	1146	c.726C>G	c.(724-726)ttC>ttG	p.F242L	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	242						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.F242L(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGATGCAGGTGAATTTCCCTG	0.547																																						uc011mse.1																			2	Substitution - Missense(2)		lung(2)		0						c.(724-726)TTC>TTG		glycine receptor, alpha 4 precursor							88.0	91.0	90.0					X																	102974192		2199	4290	6489	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974192G>C	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.726C>G	X.37:g.102974192G>C	ENSP00000361700:p.Phe242Leu					GLRA4_uc010nou.2_Missense_Mutation_p.F242L	p.F242L	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			7	1147	-			242			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.726C>G	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063087	0.76187	.	.	ENSG00000188828	ENST00000372617	T	0.77489	-1.1	5.29	2.51	0.30379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096923	0.64402	D	0.000001	D	0.87410	0.6170	M	0.89840	3.065	0.46874	D	0.999236	D;D	0.67145	0.996;0.996	D;D	0.65773	0.938;0.936	D	0.86989	0.2109	10	0.87932	D	0	.	8.9602	0.35842	0.2752:0.0:0.7248:0.0	.	242;201	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	L	242	ENSP00000361700:F242L	ENSP00000361700:F242L	F	-	3	2	GLRA4	102860848	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.808000	0.47963	0.551000	0.29008	0.600000	0.82982	TTC		PASS	0.547	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		4	124	4	124	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138714570	138714570	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:138714570G>C	ENST00000370576.4	-	2	304	c.95C>G	c.(94-96)cCt>cGt	p.P32R	MCF2_ENST00000519895.1_Missense_Mutation_p.P92R|MCF2_ENST00000338585.6_Missense_Mutation_p.P32R|MCF2_ENST00000370578.4_Missense_Mutation_p.P177R|MCF2_ENST00000370573.4_Missense_Mutation_p.P32R|MCF2_ENST00000414978.1_Missense_Mutation_p.P92R|MCF2_ENST00000520602.1_Missense_Mutation_p.P92R|MCF2_ENST00000536274.1_Missense_Mutation_p.P32R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	32	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P32R(2)|p.P92R(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTGGTAGGACGTAAAAC	0.353																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(94-96)CCT>CGT		MCF.2 cell line derived transforming sequence							90.0	86.0	87.0					X																	138714570		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138714570G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.95C>G	X.37:g.138714570G>C	ENSP00000359608:p.Pro32Arg					MCF2_uc004fav.2_Missense_Mutation_p.P32R|MCF2_uc011mwl.1_Missense_Mutation_p.P32R|MCF2_uc010nsh.1_Missense_Mutation_p.P32R|MCF2_uc011mwm.1_Missense_Mutation_p.P32R|MCF2_uc011mwn.1_Missense_Mutation_p.P177R|MCF2_uc004faw.2_Missense_Mutation_p.P92R|MCF2_uc011mwo.1_Missense_Mutation_p.P92R	p.P32R	NM_005369	NP_005360	P10911	MCF2_HUMAN			2	389	-	Acute lymphoblastic leukemia(192;0.000127)		32			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.95C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386375	0.82902	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;D;T;T;T;T;T	0.83075	-0.34;-0.34;-1.68;-0.34;-0.34;-0.34;-0.34;-0.34	5.23	5.23	0.72850	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.88979	2.995	0.52099	D	0.999942	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93835	0.7131	10	0.87932	D	0	.	16.6375	0.85062	0.0:0.0:1.0:0.0	.	92;177;32;32;32;177;32;32	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	R	92;32;32;177;92;92;32;32	ENSP00000427745:P92R;ENSP00000359608:P32R;ENSP00000438155:P32R;ENSP00000359610:P177R;ENSP00000397055:P92R;ENSP00000430276:P92R;ENSP00000359605:P32R;ENSP00000342204:P32R	ENSP00000342204:P32R	P	-	2	0	MCF2	138542236	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.997000	0.93544	2.324000	0.78689	0.529000	0.55759	CCT		PASS	0.353	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		6	9	6	9	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994860	140994860	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:140994860A>G	ENST00000285879.4	+	4	1956	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	557								p.D557G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGGAGGACTCCCTATCT	0.572										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1669-1671)GAC>GGC		melanoma antigen family C, 1							212.0	226.0	221.0					X																	140994860		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994860A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1670A>G	X.37:g.140994860A>G	ENSP00000285879:p.Asp557Gly	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.D557G	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1956	+	Acute lymphoblastic leukemia(192;6.56e-05)		557					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1670A>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	7.611	0.674850	0.14841	.	.	ENSG00000155495	ENST00000285879	T	0.02197	4.4	0.118	0.118	0.14667	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.58432	D	0.999996	P	0.38110	0.618	B	0.37780	0.258	T	0.63695	-0.6579	9	0.66056	D	0.02	.	2.6377	0.04962	0.5231:0.0:0.4769:0.0	.	557	O60732	MAGC1_HUMAN	G	557	ENSP00000285879:D557G	ENSP00000285879:D557G	D	+	2	0	MAGEC1	140822526	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.403000	0.07214	0.153000	0.19213	0.151000	0.16131	GAC		PASS	0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		111	253	111	253	---	---	---	---
VMA21	203547	broad.mit.edu	37	X	150572201	150572201	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:150572201A>C	ENST00000330374.6	+	2	257	c.152A>C	c.(151-153)tAc>tCc	p.Y51S	VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.Y106S	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)									p.Y51S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						ACTAAATCTTACATATTTGAA	0.333																																						uc004feu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)TAC>TCC		VMA21 vacuolar H+-ATPase homolog							123.0	114.0	117.0					X																	150572201		2203	4300	6503	SO:0001583	missense	203547				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome		g.chrX:150572201A>C	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.152A>C	X.37:g.150572201A>C	ENSP00000333255:p.Tyr51Ser						p.Y51S	NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN			2	228	+			51						Missense_Mutation	SNP	ENST00000330374.6	37	c.152A>C	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.708790	0.68615	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.88	5.88	0.94601	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	L	0.40543	1.245	0.52501	D	0.999954	D	0.53462	0.96	P	0.53450	0.726	T	0.64702	-0.6345	9	0.72032	D	0.01	-2.0481	13.0019	0.58681	1.0:0.0:0.0:0.0	.	51	Q3ZAQ7	VMA21_HUMAN	S	106;51	.	ENSP00000333255:Y51S	Y	+	2	0	VMA21	150322859	1.000000	0.71417	0.033000	0.17914	0.963000	0.63663	7.295000	0.78780	1.979000	0.57680	0.481000	0.45027	TAC		PASS	0.333	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		9	365	9	365	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						uc004fjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(2656-2658)CGG>TGG		L1 cell adhesion molecule isoform 1 precursor							141.0	114.0	123.0					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_uc004fjc.2_Missense_Mutation_p.R886W|L1CAM_uc010nuo.2_Missense_Mutation_p.R881W	p.R886W	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2764	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		886			Extracellular (Potential).|Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		PASS	0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	462	6	462	---	---	---	---
PAPD4	167153	broad.mit.edu	37	5	78944446	78944447	+	Frame_Shift_Ins	INS	-	-	A			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr5:78944446_78944447insA	ENST00000296783.3	+	10	1127_1128	c.828_829insA	c.(829-831)gagfs	p.E277fs	PAPD4_ENST00000423041.2_Frame_Shift_Ins_p.E273fs|PAPD4_ENST00000504233.1_Frame_Shift_Ins_p.E277fs|PAPD4_ENST00000453514.1_Frame_Shift_Ins_p.E277fs|PAPD4_ENST00000428308.2_Frame_Shift_Ins_p.E277fs			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	277					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ataGTTGTGTGGAGTTTGACTT	0.272																																						uc010jae.1																			0				ovary(1)	1						c.(826-831)GTGGAGfs		PAP associated domain containing 4																																				SO:0001589	frameshift_variant	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78944446_78944447insA	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	Exception_encountered	5.37:g.78944446_78944447insA	ENSP00000296783:p.Glu277fs					PAPD4_uc003kgb.2_Frame_Shift_Ins_p.V276fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.V276fs|PAPD4_uc003kga.2_Frame_Shift_Ins_p.V272fs|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.V276fs	p.V276fs	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	10	1246_1247	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	276_277					Q86WZ2|Q8N927	Frame_Shift_Ins	INS	ENST00000296783.3	37	c.828_829insA	CCDS4048.1																																																																																					0.272	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		4	2	4	2	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105108864	105108872	+	In_Frame_Del	DEL	TAGCTTTGG	TAGCTTTGG	-			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr7:105108864_105108872delTAGCTTTGG	ENST00000356362.2	-	12	1651_1659	c.1437_1445delCCAAAGCTA	c.(1435-1446)taccaaagctat>tat	p.479_482YQSY>Y	PUS7_ENST00000469408.1_In_Frame_Del_p.479_482YQSY>Y	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	479	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATTCCACACATAGCTTTGGTAGCTATGAA	0.368																																					Colon(138;2387 3051 17860)	uc003vcx.2																			0				breast(1)	1						c.(1435-1446)TACCAAAGCTAT>TAT		pseudouridylate synthase 7 homolog																																				SO:0001651	inframe_deletion	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105108864_105108872delTAGCTTTGG	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1437_1445delCCAAAGCTA	7.37:g.105108864_105108872delTAGCTTTGG	ENSP00000348722:p.Tyr479_Ser481del					PUS7_uc010lji.2_In_Frame_Del_p.485_488YQSY>Y|PUS7_uc003vcy.2_In_Frame_Del_p.479_482YQSY>Y|PUS7_uc003vcz.1_In_Frame_Del_p.479_482YQSY>Y	p.479_482YQSY>Y	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			12	1656_1664	-			479_482			TRUD.		Q75MG4|Q9NX19	In_Frame_Del	DEL	ENST00000356362.2	37	c.1437_1445delCCAAAGCTA	CCDS34725.1																																																																																					0.368	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		341	172	341	172	---	---	---	---
MIR4477B	100616194	broad.mit.edu	37	9	68413562	68413563	+	RNA	INS	-	-	G			TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr9:68413562_68413563insG	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		TTCAGCTCCCCCAGTGGCGCCG	0.599																																						uc004aex.2																			0													Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																																						0							g.chr9:68413562_68413563insG			9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413562_68413563insG														1		+									RNA	INS	ENST00000581659.1	37	c.117_118insG																																																																																						0.599	MIR4477B-201	KNOWN	basic	miRNA	miRNA		NR_039689		12	6	12	6	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56051910	56051934	+	Frame_Shift_Del	DEL	GGGGCGGCTAATGTCATAGGTGTGG	GGGGCGGCTAATGTCATAGGTGTGG	-	rs199608957|rs565888558|rs144484670|rs369029327		TCGA-22-4591-01A-01D-1267-08	TCGA-22-4591-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcfb93d4-8653-477b-b5d2-c2832a0e3d92	372992d5-20ff-4dcf-b88a-487f5fad82e2	g.chr17:56051910_56051934delGGGGCGGCTAATGTCATAGGTGTGG	ENST00000581208.1	-	6	1506_1530	c.1466_1490delCCACACCTATGACATTAGCCGCCCC	c.(1465-1491)cccacacctatgacattagccgcccctfs	p.PTPMTLAAP489fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.PTPMTLAAP480fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	489					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TATATTGAGAGGGGCGGCTAATGTCATAGGTGTGGGTAGATTCAT	0.476																																						uc002ivf.1																			0				ovary(1)|breast(1)	2						c.(1465-1491)CCCACACCTATGACATTAGCCGCCCCTfs		zinc finger protein 161																																				SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56051910_56051934delGGGGCGGCTAATGTCATAGGTGTGG	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1466_1490delCCACACCTATGACATTAGCCGCCCC	17.37:g.56051910_56051934delGGGGCGGCTAATGTCATAGGTGTGG	ENSP00000462337:p.Pro489fs						p.P489fs	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			6	1609_1633	-			489_497						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.1466_1490delCCACACCTATGACATTAGCCGCCCC	CCDS32687.1																																																																																					0.476	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			54	37	54	37	---	---	---	---
