#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
KLHL17	339451	broad.mit.edu	37	1	898253	898253	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:898253G>A	ENST00000338591.3	+	6	1105	c.998G>A	c.(997-999)cGt>cAt	p.R333H		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	333	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.R333H(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCACACGTCCCCGGCGC	0.672																																						uc001aca.1																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)CGT>CAT		kelch-like 17							21.0	27.0	25.0					1																	898253		2193	4291	6484	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898253G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.998G>A	1.37:g.898253G>A	ENSP00000343930:p.Arg333His					KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Missense_Mutation_p.R56H	p.R333H	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1105	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	333			Interaction with F-actin (By similarity).		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.998G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.459985	0.43736	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	T	0.47177	0.85	5.44	5.44	0.79542	Galactose oxidase, beta-propeller (1);	0.109704	0.64402	D	0.000007	T	0.72851	0.3512	M	0.84326	2.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.76071	0.859;0.987	T	0.76623	-0.2891	10	0.72032	D	0.01	.	19.3073	0.94169	0.0:0.0:1.0:0.0	.	56;333	B4DDM9;Q6TDP4	.;KLH17_HUMAN	H	333;209;56	ENSP00000343930:R333H	ENSP00000343930:R333H	R	+	2	0	KLHL17	888116	1.000000	0.71417	0.970000	0.41538	0.424000	0.31475	7.476000	0.81055	2.577000	0.86979	0.456000	0.33151	CGT		PASS	0.672	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		17	42	17	42	---	---	---	---
B3GALT6	126792	broad.mit.edu	37	1	1168415	1168415	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:1168415G>A	ENST00000379198.2	+	1	787	c.757G>A	c.(757-759)Gac>Aac	p.D253N	SDF4_ENST00000545427.1_5'Flank|SDF4_ENST00000360001.6_5'Flank|SDF4_ENST00000263741.7_5'Flank|SDF4_ENST00000459994.2_5'Flank	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	253					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi medial cisterna (GO:0005797)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylxylosylprotein 3-beta-galactosyltransferase activity (GO:0047220)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)|UDP-galactosyltransferase activity (GO:0035250)	p.D253N(1)		lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCGCCGGTGGACGTCCAGCG	0.692																																						uc001adk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GAC>AAC		beta-1,3-galactosyltransferase 6							6.0	6.0	6.0					1																	1168415		2041	4090	6131	SO:0001583	missense	126792				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity	g.chr1:1168415G>A	AY050570	CCDS13.1	1p36.33	2013-02-19	2002-05-23		ENSG00000176022	ENSG00000176022		"""Beta 3-glycosyltransferases"""	17978	protein-coding gene	gene with protein product	"""beta-1,3-galactosyltransferase-6"""	615291	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6"""			11551958	Standard	NM_080605		Approved	beta3GalT6	uc001adk.3	Q96L58	OTTHUMG00000001813	ENST00000379198.2:c.757G>A	1.37:g.1168415G>A	ENSP00000368496:p.Asp253Asn					SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	p.D253N	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	787	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	253			Lumenal (Potential).		Q5T7M5	Missense_Mutation	SNP	ENST00000379198.2	37	c.757G>A	CCDS13.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588693	0.46110	.	.	ENSG00000176022	ENST00000379198	T	0.46451	0.87	3.63	3.63	0.41609	.	0.130859	0.49305	U	0.000143	T	0.20659	0.0497	N	0.05608	-0.01	0.50171	D	0.999855	B	0.21225	0.053	B	0.22601	0.04	T	0.10683	-1.0619	10	0.02654	T	1	-21.9647	14.4772	0.67554	0.0:0.0:1.0:0.0	.	253	Q96L58	B3GT6_HUMAN	N	253	ENSP00000368496:D253N	ENSP00000368496:D253N	D	+	1	0	B3GALT6	1158278	1.000000	0.71417	0.871000	0.34182	0.989000	0.77384	5.687000	0.68219	1.872000	0.54250	0.542000	0.68232	GAC		PASS	0.692	B3GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005071.1	NM_080605		11	7	11	7	---	---	---	---
PUSL1	126789	broad.mit.edu	37	1	1245137	1245137	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:1245137G>A	ENST00000379031.5	+	5	627	c.550G>A	c.(550-552)Gct>Act	p.A184T	ACAP3_ENST00000353662.3_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|PUSL1_ENST00000470520.1_3'UTR|ACAP3_ENST00000354700.5_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	184					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A184T(1)		lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCCAGTCCGCTGGCAGCCC	0.687																																						uc001aed.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(550-552)GCT>ACT		pseudouridylate synthase-like 1							18.0	17.0	18.0					1																	1245137		2162	4280	6442	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1245137G>A	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.550G>A	1.37:g.1245137G>A	ENSP00000368318:p.Ala184Thr					ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'Flank|PUSL1_uc010nyi.1_Missense_Mutation_p.A23T|PUSL1_uc009vjx.2_5'UTR	p.A184T	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	580	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	184					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.550G>A	CCDS20.1	.	.	.	.	.	.	.	.	.	.	g	6.770	0.510903	0.12883	.	.	ENSG00000169972	ENST00000379031	T	0.54675	0.56	4.61	3.7	0.42460	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	1.689830	0.03723	N	0.252162	T	0.47948	0.1473	L	0.48935	1.535	0.09310	N	1	B	0.20550	0.046	B	0.17433	0.018	T	0.28713	-1.0035	10	0.22109	T	0.4	-7.4065	8.7628	0.34685	0.1035:0.0:0.8965:0.0	.	184	Q8N0Z8	PUSL1_HUMAN	T	184	ENSP00000368318:A184T	ENSP00000368318:A184T	A	+	1	0	PUSL1	1235000	0.000000	0.05858	0.041000	0.18516	0.131000	0.20780	0.260000	0.18424	1.184000	0.42957	-0.379000	0.06801	GCT		PASS	0.687	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		4	14	4	14	---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9777668	9777668	+	Missense_Mutation	SNP	C	C	T	rs373890620		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:9777668C>T	ENST00000377346.4	+	8	1199	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A300V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A300V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	335	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A335V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AAAGTGAACGCCGACGAGCGG	0.602																																						uc001aqb.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1003-1005)GCC>GTC		catalytic phosphatidylinositol 3-kinase delta							59.0	67.0	65.0					1																	9777668		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9777668C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1004C>T	1.37:g.9777668C>T	ENSP00000366563:p.Ala335Val					PIK3CD_uc010oaf.1_Missense_Mutation_p.A335V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A300V	p.A335V	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	8	1212	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	335					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1004C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588417	0.66105	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.70282	-0.47;-0.47;-0.47	5.66	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.31294	0.92	0.80722	D	1	B;P;B	0.37276	0.129;0.589;0.415	B;B;B	0.36335	0.041;0.222;0.102	T	0.51841	-0.8654	10	0.09084	T	0.74	-23.4166	12.793	0.57545	0.0:0.9241:0.0:0.0759	.	335;300;335	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	300;335;300;300	ENSP00000446444:A300V;ENSP00000366563:A335V;ENSP00000354410:A300V	ENSP00000353766:A300V	A	+	2	0	PIK3CD	9700255	1.000000	0.71417	0.254000	0.24359	0.977000	0.68977	7.441000	0.80485	1.382000	0.46385	0.655000	0.94253	GCC		PASS	0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		19	50	19	50	---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9787039	9787039	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:9787039C>T	ENST00000377346.4	+	24	3265	c.3070C>T	c.(3070-3072)Cgt>Tgt	p.R1024C	CLSTN1_ENST00000477264.1_5'Flank|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R1048C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R1048C	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1024	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.R1024C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CGAAGCCCTCCGTGAGAGCTG	0.577																																						uc001aqb.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(3070-3072)CGT>TGT		catalytic phosphatidylinositol 3-kinase delta							78.0	70.0	73.0					1																	9787039		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9787039C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.3070C>T	1.37:g.9787039C>T	ENSP00000366563:p.Arg1024Cys					PIK3CD_uc010oaf.1_Missense_Mutation_p.R1023C|PIK3CD_uc001aqe.3_Missense_Mutation_p.R1048C	p.R1024C	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	24	3278	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1024			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.3070C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549909	0.65311	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.81579	-1.51;-1.51;-1.51	4.65	2.71	0.32032	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000001	D	0.83820	0.5337	L	0.55990	1.75	0.80722	D	1	B;D;D	0.89917	0.238;1.0;1.0	B;D;D	0.75020	0.042;0.969;0.985	T	0.81337	-0.0978	10	0.44086	T	0.13	-19.745	7.3369	0.26615	0.2932:0.6285:0.0:0.0784	.	1023;1048;1024	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	C	1048;1024;1048;1048	ENSP00000446444:R1048C;ENSP00000366563:R1024C;ENSP00000354410:R1048C	ENSP00000353766:R1048C	R	+	1	0	PIK3CD	9709626	0.189000	0.23263	0.302000	0.25058	0.959000	0.62525	0.795000	0.26972	0.943000	0.37553	0.650000	0.86243	CGT		PASS	0.577	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		9	65	9	65	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10715863	10715863	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:10715863G>A	ENST00000377022.3	-	9	1825	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	CASZ1_ENST00000344008.5_Missense_Mutation_p.T503M|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	503					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T503M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGCTTACTCGTGAACCTCTG	0.632																																						uc001aro.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1507-1509)ACG>ATG		castor homolog 1, zinc finger isoform a							174.0	137.0	150.0					1																	10715863		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715863G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1508C>T	1.37:g.10715863G>A	ENSP00000366221:p.Thr503Met					CASZ1_uc001arp.1_Missense_Mutation_p.T503M|CASZ1_uc009vmx.2_Missense_Mutation_p.T527M	p.T503M	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1828	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	503					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1508C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043788	0.93685	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.47190	1.495	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77968	-0.2388	9	0.87932	D	0	-19.3235	17.9746	0.89123	0.0:0.0:1.0:0.0	.	527;503;503	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	M	503	.	ENSP00000339445:T503M	T	-	2	0	CASZ1	10638450	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.248000	0.95456	2.331000	0.79229	0.561000	0.74099	ACG		PASS	0.632	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		21	94	21	94	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26608936	26608936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:26608936G>A	ENST00000374222.1	-	16	1881	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	UBXN11_ENST00000314675.7_Nonsense_Mutation_p.R353*|UBXN11_ENST00000374223.1_Nonsense_Mutation_p.R230*|UBXN11_ENST00000374221.3_Nonsense_Mutation_p.R473*|UBXN11_ENST00000357089.4_Nonsense_Mutation_p.R440*|UBXN11_ENST00000374217.2_Nonsense_Mutation_p.R440*			Q5T124	UBX11_HUMAN	UBX domain protein 11	473						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R473*(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TTCGGGGCTCGGCGTGCCCGC	0.687																																						uc001blw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1417-1419)CGA>TGA		socius isoform 2							60.0	73.0	69.0					1																	26608936		1921	4102	6023	SO:0001587	stop_gained	91544					cytoplasm|cytoskeleton		g.chr1:26608936G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1417C>T	1.37:g.26608936G>A	ENSP00000363339:p.Arg473*					UBXN11_uc001blz.1_Nonsense_Mutation_p.R440*|UBXN11_uc001blv.2_Nonsense_Mutation_p.R435*|UBXN11_uc001bly.2_Nonsense_Mutation_p.R353*|UBXN11_uc001blx.2_Nonsense_Mutation_p.R231*|UBXN11_uc001bma.2_Nonsense_Mutation_p.R440*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.R473*	p.R473*	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			16	1690	-			473					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Nonsense_Mutation	SNP	ENST00000374222.1	37	c.1417C>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	35	5.505152	0.96371	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	.	.	.	4.99	2.74	0.32292	.	0.664814	0.14399	N	0.322056	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7816	11.2282	0.48897	0.0:0.0:0.4908:0.5092	.	.	.	.	X	353;230;440;473;473;440	.	ENSP00000324721:R353X	R	-	1	2	UBXN11	26481523	0.003000	0.15002	0.014000	0.15608	0.003000	0.03518	1.336000	0.33850	0.957000	0.37930	0.561000	0.74099	CGA		PASS	0.687	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		71	92	71	92	---	---	---	---
SF3A3	10946	broad.mit.edu	37	1	38435242	38435242	+	Splice_Site	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:38435242C>G	ENST00000373019.4	-	13	2126		c.e13+1		SF3A3_ENST00000448721.2_Splice_Site	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa						gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAGACTTACTTTGCCATCC	0.418																																						uc001cci.2																			1	Unknown(1)		lung(1)		0						c.e13+1		splicing factor 3a, subunit 3							232.0	204.0	214.0					1																	38435242		2203	4300	6503	SO:0001630	splice_region_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38435242C>G	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1170+1G>C	1.37:g.38435242C>G						SF3A3_uc010oik.1_Splice_Site_p.K337_splice	p.K390_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			13	1294	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)						D3DPT5|Q15460|Q5VT87	Splice_Site	SNP	ENST00000373019.4	37	c.1170_splice	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598725	0.87055	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4135	0.94685	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF3A3	38207829	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.326000	0.79133	2.769000	0.95229	0.655000	0.94253	.		PASS	0.418	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802	Intron	34	85	34	85	---	---	---	---
FOXJ3	22887	broad.mit.edu	37	1	42654556	42654556	+	Silent	SNP	A	A	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:42654556A>C	ENST00000372572.1	-	13	1808	c.1497T>G	c.(1495-1497)tcT>tcG	p.S499S	FOXJ3_ENST00000361776.1_Silent_p.S465S|FOXJ3_ENST00000372573.1_Silent_p.S499S|FOXJ3_ENST00000361346.1_Silent_p.S499S|FOXJ3_ENST00000372571.1_Silent_p.S13S|FOXJ3_ENST00000545068.1_Silent_p.S499S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	499					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S499S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGTCTAAAGACCAGTTCT	0.368																																						uc001che.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1495-1497)TCT>TCG		forkhead box J3							67.0	67.0	67.0					1																	42654556		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42654556A>C	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1497T>G	1.37:g.42654556A>C						FOXJ3_uc001chf.2_Silent_p.S499S|FOXJ3_uc001chg.2_Silent_p.S499S	p.S499S	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			13	1809	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	499					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.1497T>G	CCDS30689.1																																																																																				PASS	0.368	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		39	53	39	53	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	C	A	rs140467530		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:52824024C>A	ENST00000371586.2	-	13	1578	c.1440G>T	c.(1438-1440)ccG>ccT	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582																																						uc001ctq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1438-1440)CCG>CCT		coiled-coil and C2 domain containing 1B							55.0	53.0	54.0					1																	52824024		2203	4300	6503	SO:0001819	synonymous_variant	200014							g.chr1:52824024C>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1440G>T	1.37:g.52824024C>A						CC2D1B_uc001ctr.2_Silent_p.P26P|CC2D1B_uc001cts.2_Silent_p.P171P	p.P480P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			13	1578	-			480					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.1440G>T	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	0.147	-1.095763	0.01858	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	L	267;400	.	.	R	-	2	0	CC2D1B	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG		PASS	0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		30	61	30	61	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67109263	67109263	+	Missense_Mutation	SNP	C	C	T	rs202205354		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:67109263C>T	ENST00000371037.4	+	7	397	c.320C>T	c.(319-321)tCg>tTg	p.S107L	SGIP1_ENST00000371035.3_Missense_Mutation_p.S64L|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.S111L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S83L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S82L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	107	Poly-Glu.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.S83L(1)|p.S107L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAAGTGAATCGGAAGAAGAA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		21957	0.001		0.0	False		,,,				2504	0.0					uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(319-321)TCG>TTG		SH3-domain GRB2-like (endophilin) interacting							79.0	79.0	79.0					1																	67109263		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109263C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.320C>T	1.37:g.67109263C>T	ENSP00000360076:p.Ser107Leu					SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR	p.S107L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			7	537	+			107			Poly-Glu.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.320C>T	CCDS30744.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.5	5.010869	0.93346	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.3	5.3	0.74995	.	1.331870	0.04634	N	0.404220	T	0.15046	0.0363	M	0.71206	2.165	0.53005	D	0.99996	D	0.69078	0.997	D	0.70227	0.968	T	0.00571	-1.1665	10	0.87932	D	0	-1.5107	19.3168	0.94218	0.0:1.0:0.0:0.0	.	107	Q9BQI5	SGIP1_HUMAN	L	111;83;107;64;110;110;82;107	ENSP00000237247:S111L;ENSP00000360078:S83L;ENSP00000410439:S107L;ENSP00000360074:S64L;ENSP00000360075:S82L;ENSP00000360076:S107L	ENSP00000237247:S111L	S	+	2	0	SGIP1	66881851	1.000000	0.71417	0.918000	0.36340	0.993000	0.82548	7.283000	0.78640	2.631000	0.89168	0.655000	0.94253	TCG		PASS	0.343	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		14	128	14	128	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886204	144886205	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:144886204_144886205CC>AT	ENST00000369354.3	-	23	3218_3219	c.3029_3030GG>AT	c.(3028-3030)aGG>aAT	p.R1010N	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1147N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1010N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1076N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1147N|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1010					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1010S(2)|p.R1010N(2)|p.R1010K(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCAGCCCTCAGGTGGAG	0.52			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		6	Substitution - Missense(6)		lung(6)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3028-3030)AGG>AGT|c.(3028-3030)AGG>AAG		phosphodiesterase 4D interacting protein isoform																																				SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886204C>A|g.chr1:144886205C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3029_3030delinsAT	1.37:g.144886204_144886205delinsAT	ENSP00000358360:p.Arg1010Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R1076S|PDE4DIP_uc001elv.3_Missense_Mutation_p.R17S|NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R1076K|PDE4DIP_uc001elv.3_Missense_Mutation_p.R17K	p.R1010S|p.R1010K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3321|3320	-			1010			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3030G>T|c.3029G>A	CCDS30824.1																																																																																				PASS	0.520	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		61|62	321|323	61	321	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150919447	150919447	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:150919447T>C	ENST00000271640.5	+	10	1416	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.L409P	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	409					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L409P(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTCTGCACTGGAGAAGAAG	0.493																																						uc001evu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1225-1227)CTG>CCG		SET domain, bifurcated 1 isoform 1							112.0	92.0	99.0					1																	150919447		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150919447T>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1226T>C	1.37:g.150919447T>C	ENSP00000271640:p.Leu409Pro					SETDB1_uc009wmf.2_Missense_Mutation_p.L409P|SETDB1_uc001evv.2_Missense_Mutation_p.L409P|SETDB1_uc009wmg.1_Missense_Mutation_p.L409P	p.L409P	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		10	1416	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		409					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1226T>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317153	0.40996	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.87334	-2.24;1.51;-2.24;1.24	5.59	4.4	0.53042	.	0.182670	0.48286	D	0.000195	T	0.60248	0.2254	N	0.08118	0	0.80722	D	1	B;B;P;B	0.36315	0.412;0.115;0.547;0.412	B;B;B;B	0.33960	0.133;0.124;0.173;0.084	T	0.68273	-0.5452	10	0.42905	T	0.14	.	8.8138	0.34983	0.3362:0.0:0.0:0.6638	.	409;409;409;409	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	P	409	ENSP00000271640:L409P;ENSP00000436148:L409P;ENSP00000357965:L409P;ENSP00000432348:L409P	ENSP00000271640:L409P	L	+	2	0	SETDB1	149186071	1.000000	0.71417	0.359000	0.25824	0.991000	0.79684	4.243000	0.58721	2.140000	0.66376	0.460000	0.39030	CTG		PASS	0.493	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			46	100	46	100	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158325727	158325727	+	Silent	SNP	C	C	A	rs560510473		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:158325727C>A	ENST00000368167.3	+	4	975	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	CD1E_ENST00000368160.3_Silent_p.R246R|CD1E_ENST00000444681.2_Silent_p.R147R|CD1E_ENST00000368161.3_Silent_p.R246R|CD1E_ENST00000368156.1_Silent_p.R156R|CD1E_ENST00000434258.1_Silent_p.R244R|CD1E_ENST00000368157.1_Silent_p.R57R|CD1E_ENST00000368165.3_Silent_p.R156R|CD1E_ENST00000368155.3_Silent_p.R156R|CD1E_ENST00000368164.3_Silent_p.R57R|CD1E_ENST00000368163.3_Silent_p.R246R|CD1E_ENST00000368166.3_Silent_p.R57R|CD1E_ENST00000368154.1_Silent_p.R57R|CD1E_ENST00000452291.2_Silent_p.R57R	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	246	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.R246R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATGTGGATGCGGGGTGAGCA	0.642																																						uc001fse.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(736-738)CGG>AGG		CD1E antigen isoform a precursor							92.0	90.0	91.0					1																	158325727		2203	4300	6503	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325727C>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.736C>A	1.37:g.158325727C>A						CD1E_uc010pid.1_Silent_p.R244R|CD1E_uc010pie.1_Silent_p.R147R|CD1E_uc010pif.1_Silent_p.R57R|CD1E_uc001fsd.2_Silent_p.R246R|CD1E_uc001fsk.2_Silent_p.R156R|CD1E_uc001fsj.2_Silent_p.R156R|CD1E_uc001fsc.2_Silent_p.R57R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Silent_p.R57R|CD1E_uc001fsf.2_Silent_p.R246R|CD1E_uc001fry.2_Silent_p.R246R|CD1E_uc001fsg.2_Silent_p.R57R|CD1E_uc001fsh.2_Silent_p.R57R|CD1E_uc001fsi.2_Silent_p.R246R|CD1E_uc009wsv.2_Silent_p.R147R|CD1E_uc001frz.2_Silent_p.R156R|CD1E_uc009wsw.2_Silent_p.R4R	p.R246R	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	975	+	all_hematologic(112;0.0378)		246			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.736C>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228304	0.22542	.	.	ENSG00000158488	ENST00000368162	.	.	.	4.6	-0.0786	0.13714	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.35054	D	0.760958	.	.	.	.	.	.	T	0.10359	-1.0633	4	.	.	.	-20.265	5.4509	0.16565	0.5484:0.3492:0.0:0.1024	.	.	.	.	E	15	.	.	A	+	2	0	CD1E	156592351	0.656000	0.27385	0.917000	0.36280	0.992000	0.81027	-0.056000	0.11787	0.153000	0.19213	0.563000	0.77884	GCG		PASS	0.642	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		55	136	55	136	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687805	158687805	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:158687805A>T	ENST00000368146.1	-	1	148	c.149T>A	c.(148-150)aTc>aAc	p.I50N	OR6K3_ENST00000368145.1_Missense_Mutation_p.I34N			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I50N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAAAGTATAGATGAAAAGTAA	0.373																																						uc010pip.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(148-150)ATC>AAC		olfactory receptor, family 6, subfamily K,							84.0	93.0	90.0					1																	158687805		2202	4300	6502	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687805A>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.149T>A	1.37:g.158687805A>T	ENSP00000357128:p.Ile50Asn						p.I50N	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	149	-	all_hematologic(112;0.0378)		50			Helical; Name=1; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.149T>A		.	.	.	.	.	.	.	.	.	.	A	15.31	2.794776	0.50102	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00640	6.03;6.03	4.04	4.04	0.47022	.	.	.	.	.	T	0.01353	0.0044	M	0.83774	2.66	0.30659	N	0.75463	D	0.52996	0.957	P	0.57502	0.822	T	0.20974	-1.0259	9	0.87932	D	0	.	12.4248	0.55540	1.0:0.0:0.0:0.0	.	50	Q8NGY3	OR6K3_HUMAN	N	34;50	ENSP00000357127:I34N;ENSP00000357128:I50N	ENSP00000357127:I34N	I	-	2	0	OR6K3	156954429	0.005000	0.15991	0.995000	0.50966	0.563000	0.35712	2.338000	0.43957	1.819000	0.53055	0.361000	0.22055	ATC		PASS	0.373	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				63	160	63	160	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158725617	158725617	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:158725617G>T	ENST00000368144.2	+	1	1108	c.1012G>T	c.(1012-1014)Gct>Tct	p.A338S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A338S(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCAGAAGAGGGCTGGTTGGGC	0.408																																						uc001fsw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1012-1014)GCT>TCT		olfactory receptor, family 6, subfamily K,							77.0	82.0	80.0					1																	158725617		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725617G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.1012G>T	1.37:g.158725617G>T	ENSP00000357126:p.Ala338Ser						p.A338S	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	1012	+	all_hematologic(112;0.0378)		338			Cytoplasmic (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.1012G>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643058	0.14451	.	.	ENSG00000180433	ENST00000368144	T	0.00297	8.23	4.82	1.58	0.23477	.	1.464260	0.04967	N	0.463063	T	0.00039	0.0001	N	0.01168	-0.975	0.09310	N	1	B	0.18461	0.028	B	0.10450	0.005	T	0.02437	-1.1159	10	0.14656	T	0.56	3.6737	5.3602	0.16083	0.0834:0.4888:0.2917:0.1362	.	338	Q8NGW6	OR6K6_HUMAN	S	338	ENSP00000357126:A338S	ENSP00000357126:A338S	A	+	1	0	OR6K6	156992241	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.120000	0.10660	0.119000	0.18210	-0.181000	0.13052	GCT		PASS	0.408	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		56	111	56	111	---	---	---	---
APCS	325	broad.mit.edu	37	1	159558188	159558188	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:159558188C>T	ENST00000255040.2	+	2	459	c.362C>T	c.(361-363)tCa>tTa	p.S121L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	121	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.S121L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAGTCCTCATCAGGTATTGCT	0.468																																						uc001ftv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(361-363)TCA>TTA		serum amyloid P component precursor							75.0	75.0	75.0					1																	159558188		2203	4300	6503	SO:0001583	missense	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558188C>T		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.362C>T	1.37:g.159558188C>T	ENSP00000255040:p.Ser121Leu						p.S121L	NM_001639	NP_001630	P02743	SAMP_HUMAN			2	458	+	all_hematologic(112;0.0429)		121			Pentaxin.			Missense_Mutation	SNP	ENST00000255040.2	37	c.362C>T	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132404	0.56828	.	.	ENSG00000132703	ENST00000255040	T	0.08458	3.09	4.11	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.526733	0.20112	N	0.098996	T	0.14527	0.0351	M	0.78916	2.43	0.09310	N	0.999995	D	0.76494	0.999	D	0.76071	0.987	T	0.03103	-1.1072	10	0.72032	D	0.01	-1.2776	9.1102	0.36723	0.0:0.8838:0.0:0.1161	.	121	P02743	SAMP_HUMAN	L	121	ENSP00000255040:S121L	ENSP00000255040:S121L	S	+	2	0	APCS	157824812	0.422000	0.25473	0.006000	0.13384	0.606000	0.37113	3.950000	0.56676	0.980000	0.38523	0.655000	0.94253	TCA		PASS	0.468	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		51	88	51	88	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179660053	179660053	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:179660053C>A	ENST00000367614.1	+	17	3280	c.2921C>A	c.(2920-2922)cCc>cAc	p.P974H	TDRD5_ENST00000294848.8_Missense_Mutation_p.P974H|TDRD5_ENST00000444136.1_Missense_Mutation_p.P1028H	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	974					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.P974H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CACTGGTACCCCAGTGTGAAA	0.532																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2920-2922)CCC>CAC		tudor domain containing 5							36.0	38.0	38.0					1																	179660053		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179660053C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2921C>A	1.37:g.179660053C>A	ENSP00000356586:p.Pro974His					TDRD5_uc010pnp.1_Missense_Mutation_p.P1028H|TDRD5_uc001gnh.1_Missense_Mutation_p.P529H	p.P974H	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3171	+			974					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2921C>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142301	0.77775	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.64260	0.82;0.82;0.91;-0.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000009	T	0.76399	0.3982	M	0.64997	1.995	0.36189	D	0.849949	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82275	-0.0538	10	0.87932	D	0	-17.1746	14.7519	0.69533	0.0:1.0:0.0:0.0	.	1028;974	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	H	974;974;1028;484	ENSP00000356586:P974H;ENSP00000294848:P974H;ENSP00000406052:P1028H;ENSP00000410744:P484H	ENSP00000294848:P974H	P	+	2	0	TDRD5	177926676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.790000	0.55461	2.614000	0.88457	0.655000	0.94253	CCC		PASS	0.532	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		33	55	33	55	---	---	---	---
KCNK2	3776	broad.mit.edu	37	1	215408273	215408273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:215408273C>T	ENST00000444842.2	+	7	1216	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	KCNK2_ENST00000391895.2_Nonsense_Mutation_p.Q352*|KCNK2_ENST00000391894.2_Nonsense_Mutation_p.Q341*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	356	Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.Q341*(1)|p.Q356*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TGACAAGTTCCAGCGGGCCAC	0.552																																						uc001hkq.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1066-1068)CAG>TAG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						78.0	75.0	76.0					1																	215408273		2203	4300	6503	SO:0001587	stop_gained	3776						outward rectifier potassium channel activity	g.chr1:215408273C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1066C>T	1.37:g.215408273C>T	ENSP00000394033:p.Gln356*					KCNK2_uc001hko.2_Nonsense_Mutation_p.Q352*|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.Q341*	p.Q356*	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1235	+			356			Cytoplasmic (Potential).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Nonsense_Mutation	SNP	ENST00000444842.2	37	c.1066C>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844107	0.97016	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	.	.	.	X	352;341;356	.	ENSP00000375764:Q341X	Q	+	1	0	KCNK2	213474896	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CAG		PASS	0.552	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		24	144	24	144	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216270496	216270496	+	Missense_Mutation	SNP	G	G	T	rs370391920		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:216270496G>T	ENST00000307340.3	-	22	5073	c.4687C>A	c.(4687-4689)Cct>Act	p.P1563T	USH2A_ENST00000366943.2_Missense_Mutation_p.P1563T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1563	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P1563T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATTGCCAGGTGATGCTGCA	0.393										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4687-4689)CCT>ACT		usherin isoform B							82.0	77.0	78.0					1																	216270496		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216270496G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4687C>A	1.37:g.216270496G>T	ENSP00000305941:p.Pro1563Thr	HNSCC(13;0.011)					p.P1563T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	22	5074	-			1563			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4687C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788079	0.70337	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77098	-1.07;-1.07	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.44902	D	0.000419	D	0.84986	0.5594	L	0.53249	1.67	0.50632	D	0.999889	D	0.76494	0.999	D	0.72982	0.979	D	0.84993	0.0895	10	0.52906	T	0.07	.	15.266	0.73663	0.0:0.1397:0.8603:0.0	.	1563	O75445	USH2A_HUMAN	T	1563	ENSP00000305941:P1563T;ENSP00000355910:P1563T	ENSP00000305941:P1563T	P	-	1	0	USH2A	214337119	1.000000	0.71417	0.888000	0.34837	0.910000	0.53928	3.497000	0.53295	2.646000	0.89796	0.655000	0.94253	CCT		PASS	0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		30	52	30	52	---	---	---	---
FBXO28	23219	broad.mit.edu	37	1	224345054	224345054	+	Splice_Site	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:224345054T>G	ENST00000366862.5	+	5	756	c.713T>G	c.(712-714)gTt>gGt	p.V238G	FBXO28_ENST00000424254.2_Splice_Site_p.F173V	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	238								p.V238G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCCTCCACAGTTCCAGGACCG	0.398																																						uc001hoh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|lung(1)	5						c.(712-714)GTT>GGT		F-box protein 28 isoform a							98.0	97.0	97.0					1																	224345054		2203	4300	6503	SO:0001630	splice_region_variant	23219							g.chr1:224345054T>G	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.713-1T>G	1.37:g.224345054T>G						FBXO28_uc009xef.2_Missense_Mutation_p.F173V|FBXO28_uc010pvc.1_Missense_Mutation_p.V33G	p.V238G	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	5	754	+	Breast(184;0.206)		238					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.713T>G	CCDS1539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.597|1.597	-0.527489|-0.527489	0.04141|0.04141	.|.	.|.	ENSG00000143756|ENSG00000143756	ENST00000424254|ENST00000366862	.|.	.|.	.|.	6.17|6.17	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40743|0.40743	0.1129|0.1129	L|L	0.43152|0.43152	1.355|1.355	0.23712|0.23712	N|N	0.997045|0.997045	B|B	0.12630|0.26081	0.006|0.141	B|B	0.14023|0.28553	0.01|0.091	T|T	0.25187|0.25187	-1.0139|-1.0139	7|8	.|.	.|.	.|.	.|.	12.4759|12.4759	0.55814|0.55814	0.0:0.065:0.0:0.935|0.0:0.065:0.0:0.935	.|.	173|238	E9PEM8|Q9NVF7	.|FBX28_HUMAN	V|G	173|238	.|.	.|.	F|V	+|+	1|2	0|0	FBXO28|FBXO28	222411677|222411677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.573000|7.573000	0.82421|0.82421	1.144000|1.144000	0.42321|0.42321	0.533000|0.533000	0.62120|0.62120	TTC|GTT		PASS	0.398	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176	Missense_Mutation	70	132	70	132	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247492835	247492835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:247492835C>A	ENST00000294753.4	-	3	510	c.46G>T	c.(46-48)Gag>Tag	p.E16*	ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E16*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	16					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E16*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGGGCTCCTCACTTTCCTTC	0.602																																						uc001ico.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(46-48)GAG>TAG		zinc finger protein 496							60.0	74.0	69.0					1																	247492835		2203	4300	6503	SO:0001587	stop_gained	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492835C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.46G>T	1.37:g.247492835C>A	ENSP00000294753:p.Glu16*					ZNF496_uc009xgv.2_Nonsense_Mutation_p.E16*|ZNF496_uc001icp.2_Nonsense_Mutation_p.E16*|ZNF496_uc010pyv.1_Nonsense_Mutation_p.E16*	p.E16*	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	511	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		16					Q8TBS2	Nonsense_Mutation	SNP	ENST00000294753.4	37	c.46G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	40	8.265233	0.98732	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0547	0.53527	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	.	E	-	1	0	ZNF496	245559458	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	1.483000	0.35497	2.290000	0.77057	0.561000	0.74099	GAG		PASS	0.602	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		39	141	39	141	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202133	248202133	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:248202133C>T	ENST00000366479.2	+	1	660	c.564C>T	c.(562-564)tgC>tgT	p.C188C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C188C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			CGCTAGCCTGCACAGACACTT	0.463																																						uc001idw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(562-564)TGC>TGT		olfactory receptor, family 2, subfamily L,							277.0	242.0	254.0					1																	248202133		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202133C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.564C>T	1.37:g.248202133C>T						OR2L13_uc001ids.2_Intron	p.C188C	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	660	+	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)		188			Extracellular (Potential).		Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.564C>T	CCDS31103.1																																																																																				PASS	0.463	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		62	325	62	325	---	---	---	---
TMEM18	129787	broad.mit.edu	37	2	675626	675626	+	Missense_Mutation	SNP	G	G	A	rs201517976		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:675626G>A	ENST00000281017.3	-	2	155	c.62C>T	c.(61-63)aCg>aTg	p.T21M	TMEM18_ENST00000355654.2_Missense_Mutation_p.T8M|AC092159.2_ENST00000445418.1_RNA|TMEM18_ENST00000405941.3_Missense_Mutation_p.T24M	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	21					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.T21M(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		AGTCCAGTCCGTCTGCTGTAG	0.647																																						uc002qwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)ACG>ATG		transmembrane protein 18		G	MET/THR	0,4406		0,0,2203	76.0	65.0	69.0		62	5.1	1.0	2		69	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM18	NM_152834.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	21/141	675626	2,13004	2203	4300	6503	SO:0001583	missense	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:675626G>A	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.62C>T	2.37:g.675626G>A	ENSP00000281017:p.Thr21Met					TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	p.T21M	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	2	156	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	21					D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	c.62C>T	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242642	0.58995	0.0	2.33E-4	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.05	5.05	0.67936	.	0.136564	0.50627	D	0.000120	T	0.69993	0.3173	M	0.75447	2.3	0.34947	D	0.750869	D	0.69078	0.997	P	0.56514	0.8	T	0.80535	-0.1339	9	0.72032	D	0.01	8.2278	13.772	0.63032	0.0:0.0:1.0:0.0	.	21	Q96B42	TMM18_HUMAN	M	21;8;24	.	ENSP00000281017:T21M	T	-	2	0	TMEM18	665626	1.000000	0.71417	0.999000	0.59377	0.290000	0.27261	5.442000	0.66575	2.602000	0.87976	0.591000	0.81541	ACG		PASS	0.647	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		20	19	20	19	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926397	1926397	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:1926397G>T	ENST00000399161.2	-	10	1891	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	MYT1L_ENST00000428368.2_Missense_Mutation_p.L382I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	382					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L382I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCCGCATGAGGTTCAGCATG	0.592																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1144-1146)CTC>ATC		myelin transcription factor 1-like							34.0	37.0	36.0					2																	1926397		2108	4227	6335	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926397G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1144C>A	2.37:g.1926397G>T	ENSP00000382114:p.Leu382Ile					MYT1L_uc002qxd.2_Missense_Mutation_p.L382I|MYT1L_uc010ewl.1_RNA	p.L382I	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1971	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	382					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1144C>A		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550360	0.65311	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.58358	0.34;0.34	5.86	3.79	0.43588	.	0.000000	0.64402	D	0.000003	T	0.54679	0.1873	L	0.32530	0.975	0.53688	D	0.99997	D;D	0.71674	0.997;0.998	D;D	0.83275	0.991;0.996	T	0.50101	-0.8867	10	0.20046	T	0.44	-27.6735	7.0672	0.25159	0.3858:0.0:0.6142:0.0	.	382;382	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	I	382;330;382	ENSP00000382114:L382I;ENSP00000396103:L382I	ENSP00000295067:L330I	L	-	1	0	MYT1L	1905404	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.360000	0.66086	1.389000	0.46526	0.655000	0.94253	CTC		PASS	0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	52	8	52	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295558	29295558	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:29295558G>T	ENST00000331664.5	-	1	1569	c.1570C>A	c.(1570-1572)Cca>Aca	p.P524T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	524					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.P524T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCTGAAATGGGCTTTCCCGG	0.522																																						uc002rmt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1570-1572)CCA>ACA		hypothetical protein LOC388939							59.0	63.0	62.0					2																	29295558		1989	4159	6148	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295558G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1570C>A	2.37:g.29295558G>T	ENSP00000332809:p.Pro524Thr						p.P524T	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1570	-			524						Missense_Mutation	SNP	ENST00000331664.5	37	c.1570C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673178	0.14776	.	.	ENSG00000179270	ENST00000331664	T	0.17528	2.27	5.06	-2.07	0.07276	.	1.794740	0.02285	N	0.069770	T	0.10852	0.0265	N	0.25144	0.715	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.21075	-1.0256	10	0.28530	T	0.3	3.7965	3.9482	0.09358	0.0768:0.1652:0.2919:0.4662	.	524	A6NGG8	CB071_HUMAN	T	524	ENSP00000332809:P524T	ENSP00000332809:P524T	P	-	1	0	C2orf71	29149062	0.000000	0.05858	0.005000	0.12908	0.295000	0.27426	0.146000	0.16180	-0.447000	0.07138	0.561000	0.74099	CCA		PASS	0.522	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		42	179	42	179	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36771551	36771551	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:36771551A>G	ENST00000280527.2	+	15	3023	c.2656A>G	c.(2656-2658)Att>Gtt	p.I886V	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	886					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I886V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAATATACCCATTGAGAAGAC	0.438																																						uc002rpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2656-2658)ATT>GTT		cysteine-rich motor neuron 1 precursor							133.0	131.0	131.0					2																	36771551		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36771551A>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2656A>G	2.37:g.36771551A>G	ENSP00000280527:p.Ile886Val						p.I886V	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			15	2695	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	886			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.2656A>G	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348513	0.82132	.	.	ENSG00000150938	ENST00000280527	T	0.04275	3.66	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	L	0.29908	0.895	0.46654	D	0.999147	P	0.48640	0.913	P	0.61592	0.891	T	0.12837	-1.0532	10	0.02654	T	1	-13.6506	15.3479	0.74355	1.0:0.0:0.0:0.0	.	886	Q9NZV1	CRIM1_HUMAN	V	886	ENSP00000280527:I886V	ENSP00000280527:I886V	I	+	1	0	CRIM1	36625055	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.395000	0.79876	2.210000	0.71456	0.533000	0.62120	ATT		PASS	0.438	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		44	53	44	53	---	---	---	---
EML4	27436	broad.mit.edu	37	2	42511812	42511812	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:42511812G>C	ENST00000318522.5	+	9	1242	c.980G>C	c.(979-981)gGa>gCa	p.G327A	EML4_ENST00000402711.2_Missense_Mutation_p.G269A|EML4_ENST00000401738.3_Missense_Mutation_p.G338A	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	327					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.G327A(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATTGCAACTGGACAGATAGCT	0.378			T	ALK	NSCLC																																	uc002rsi.2				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	1	Substitution - Missense(1)		lung(1)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(979-981)GGA>GCA		echinoderm microtubule associated protein like 4							169.0	159.0	163.0					2																	42511812		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42511812G>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.980G>C	2.37:g.42511812G>C	ENSP00000320663:p.Gly327Ala					EML4_uc010fap.2_Missense_Mutation_p.G269A|EML4_uc002rsj.2_5'Flank	p.G327A	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			9	1242	+			327			WD 1.		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.980G>C	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669172	0.88348	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.101943	0.64402	D	0.000002	T	0.79064	0.4383	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.82794	-0.0281	10	0.59425	D	0.04	-13.0372	17.9049	0.88915	0.0:0.0:1.0:0.0	.	269;327	B5MCW9;Q9HC35	.;EMAL4_HUMAN	A	327;269;338	ENSP00000320663:G327A;ENSP00000385059:G269A;ENSP00000384939:G338A	ENSP00000320663:G327A	G	+	2	0	EML4	42365316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.393000	0.97256	2.287000	0.76781	0.491000	0.48974	GGA		PASS	0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		31	88	31	88	---	---	---	---
EML4	27436	broad.mit.edu	37	2	42511825	42511825	+	Silent	SNP	C	C	T	rs566921568	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:42511825C>T	ENST00000318522.5	+	9	1255	c.993C>T	c.(991-993)ggC>ggT	p.G331G	EML4_ENST00000402711.2_Silent_p.G273G|EML4_ENST00000401738.3_Silent_p.G342G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	331					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.G331G(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGATAGCTGGCGTGGATAAAG	0.378			T	ALK	NSCLC								C|||	2	0.000399361	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.002					uc002rsi.2				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	1	Substitution - coding silent(1)		lung(1)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(991-993)GGC>GGT		echinoderm microtubule associated protein like 4							169.0	160.0	163.0					2																	42511825		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42511825C>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.993C>T	2.37:g.42511825C>T						EML4_uc010fap.2_Silent_p.G273G|EML4_uc002rsj.2_5'Flank	p.G331G	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			9	1255	+			331			WD 1.		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.993C>T	CCDS1807.1																																																																																				PASS	0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		31	93	31	93	---	---	---	---
ANXA4	307	broad.mit.edu	37	2	70052638	70052638	+	Silent	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:70052638A>T	ENST00000394295.4	+	13	1205	c.957A>T	c.(955-957)ggA>ggT	p.G319G	ANXA4_ENST00000536030.1_Silent_p.G235G|ANXA4_ENST00000409920.1_Silent_p.G297G	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	317					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.G319G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGTGGAGGAGATGATTAAA	0.343																																						uc002sfr.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(955-957)GGA>GGT		annexin IV							81.0	84.0	83.0					2																	70052638		2203	4300	6503	SO:0001819	synonymous_variant	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70052638A>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.957A>T	2.37:g.70052638A>T						ANXA4_uc002sfs.3_Silent_p.G297G|ANXA4_uc010yqo.1_Silent_p.G235G	p.G319G	NM_001153	NP_001144	P09525	ANXA4_HUMAN			13	1184	+			317					B4DDF9|Q96F33|Q9BWK1	Silent	SNP	ENST00000394295.4	37	c.957A>T	CCDS1894.1																																																																																				PASS	0.343	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		4	98	4	98	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74900824	74900824	+	Missense_Mutation	SNP	G	G	T	rs375402877		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:74900824G>T	ENST00000357877.2	+	7	840	c.691G>T	c.(691-693)Gtg>Ttg	p.V231L	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	231	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.V231L(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGTCGCAGCCGTGGCCTTGAG	0.567																																						uc002sna.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(691-693)GTG>TTG		semaphorin W precursor							66.0	65.0	66.0					2																	74900824		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900824G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.691G>T	2.37:g.74900824G>T	ENSP00000350547:p.Val231Leu					SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.V198L|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.V231L	NM_004263	NP_004254	O95754	SEM4F_HUMAN			7	802	+			231			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.691G>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441812	0.25900	.	.	ENSG00000135622	ENST00000357877	T	0.10288	2.89	4.79	-3.21	0.05140	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.621093	0.15848	N	0.241645	T	0.07052	0.0179	L	0.42744	1.35	0.09310	N	1	B	0.21520	0.057	B	0.25884	0.064	T	0.44590	-0.9318	10	0.11794	T	0.64	.	6.2394	0.20783	0.5226:0.1347:0.3427:0.0	.	231	O95754	SEM4F_HUMAN	L	231	ENSP00000350547:V231L	ENSP00000350547:V231L	V	+	1	0	SEMA4F	74754332	0.004000	0.15560	0.127000	0.21898	0.975000	0.68041	-0.614000	0.05604	-1.049000	0.03234	0.462000	0.41574	GTG		PASS	0.567	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		53	74	53	74	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74900882	74900882	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:74900882T>C	ENST00000357877.2	+	7	898	c.749T>C	c.(748-750)tTc>tCc	p.F250S	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	250	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.F250S(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ATCTACTTCTTCTTTACGGAG	0.577																																						uc002sna.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(748-750)TTC>TCC		semaphorin W precursor							99.0	103.0	102.0					2																	74900882		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900882T>C	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.749T>C	2.37:g.74900882T>C	ENSP00000350547:p.Phe250Ser					SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.F217S|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.F250S	NM_004263	NP_004254	O95754	SEM4F_HUMAN			7	860	+			250			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.749T>C	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830467	0.91036	.	.	ENSG00000135622	ENST00000357877	T	0.50001	0.76	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80991	-0.1135	10	0.87932	D	0	.	12.5739	0.56354	0.0:0.0:0.0:1.0	.	250	O95754	SEM4F_HUMAN	S	250	ENSP00000350547:F250S	ENSP00000350547:F250S	F	+	2	0	SEMA4F	74754390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.148000	0.77389	1.922000	0.55676	0.379000	0.24179	TTC		PASS	0.577	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		50	178	50	178	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88888334	88888334	+	Silent	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:88888334G>T	ENST00000303236.3	-	7	1552	c.1251C>A	c.(1249-1251)gtC>gtA	p.V417V	EIF2AK3_ENST00000419748.1_Silent_p.V266V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	417					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.V417V(1)		ovary(3)	3						TTTCATTAGTGACAGATTCCA	0.363																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1249-1251)GTC>GTA		eukaryotic translation initiation factor 2-alpha							138.0	136.0	137.0					2																	88888334		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88888334G>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1251C>A	2.37:g.88888334G>T							p.V417V	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			7	1453	-			417			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.1251C>A	CCDS33241.1																																																																																				PASS	0.363	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		33	138	33	138	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98429176	98429176	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:98429176T>C	ENST00000186436.5	-	16	1882	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	552						integral component of membrane (GO:0016021)		p.I552V(1)|p.I439V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCAAAATCTATGAAACGTTCC	0.303																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(1654-1656)ATA>GTA		RW1 protein							55.0	55.0	55.0					2																	98429176		1806	4060	5866	SO:0001583	missense	23505					integral to membrane		g.chr2:98429176T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1654A>G	2.37:g.98429176T>C	ENSP00000186436:p.Ile552Val						p.I552V	NM_015348	NP_056163	Q92545	TM131_HUMAN			16	1883	-			552						Missense_Mutation	SNP	ENST00000186436.5	37	c.1654A>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446216	0.43429	.	.	ENSG00000075568	ENST00000186436	T	0.36340	1.26	5.57	5.57	0.84162	.	0.050179	0.85682	D	0.000000	T	0.30885	0.0779	N	0.25647	0.755	0.80722	D	1	P	0.43788	0.817	B	0.42882	0.401	T	0.06320	-1.0833	10	0.46703	T	0.11	-22.4375	14.6021	0.68447	0.0:0.0:0.0:1.0	.	552	Q92545	TM131_HUMAN	V	552	ENSP00000186436:I552V	ENSP00000186436:I552V	I	-	1	0	TMEM131	97795608	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.584000	0.46102	2.247000	0.74100	0.482000	0.46254	ATA		PASS	0.303	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		21	76	21	76	---	---	---	---
CCDC115	84317	broad.mit.edu	37	2	131098603	131098603	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:131098603C>A	ENST00000259229.2	-	4	531	c.308G>T	c.(307-309)aGg>aTg	p.R103M	IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000409127.1_Missense_Mutation_p.R98M|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.R98M	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	103						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.R103M(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GCCCTTGCGCCTCCGCAGACC	0.542																																						uc002tqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AGG>ATG		coiled-coil domain containing 115							21.0	25.0	24.0					2																	131098603		2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131098603C>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.308G>T	2.37:g.131098603C>A	ENSP00000259229:p.Arg103Met					CCDC115_uc002tqw.1_Missense_Mutation_p.R95M|CCDC115_uc010zaf.1_Missense_Mutation_p.R98M|CCDC115_uc002tqx.2_Missense_Mutation_p.R98M|CCDC115_uc002tqz.1_Missense_Mutation_p.R103M|IMP4_uc002tra.1_5'Flank	p.R103M	NM_032357	NP_115733	Q96NT0	CC115_HUMAN			4	532	-	Colorectal(110;0.1)		103					B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.308G>T	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133573	0.37630	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.94758	-3.51;-3.51;-3.51	3.65	3.65	0.41850	.	0.146358	0.39834	N	0.001244	D	0.95856	0.8651	M	0.79475	2.455	0.35823	D	0.824758	D;D;D;D	0.71674	0.998;0.997;0.985;0.995	D;P;P;P	0.64776	0.929;0.875;0.789;0.847	D	0.96394	0.9291	10	0.62326	D	0.03	0.4244	7.1753	0.25740	0.0:0.8808:0.0:0.1192	.	98;103;103;98	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	M	103;98;98	ENSP00000259229:R103M;ENSP00000387301:R98M;ENSP00000399756:R98M	ENSP00000259229:R103M	R	-	2	0	CCDC115	130815073	0.355000	0.24921	0.971000	0.41717	0.023000	0.10783	0.616000	0.24344	2.332000	0.79248	0.655000	0.94253	AGG		PASS	0.542	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		11	21	11	21	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136872656	136872656	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:136872656T>C	ENST00000241393.3	-	2	946	c.842A>G	c.(841-843)cAc>cGc	p.H281R	CXCR4_ENST00000409817.1_Missense_Mutation_p.H285R|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	281					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.H285R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AATCCACTTGTGCACAGTGTT	0.488																																						uc002tuz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(841-843)CAC>CGC		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						359.0	342.0	348.0					2																	136872656		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872656T>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.842A>G	2.37:g.136872656T>C	ENSP00000241393:p.His281Arg					CXCR4_uc002tuy.2_Missense_Mutation_p.H285R|CXCR4_uc010fnk.2_Missense_Mutation_p.H266R	p.H281R	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	937	-			281			Extracellular.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.842A>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241109	0.58995	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.71222	-0.55;-0.55	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.134555	0.64402	D	0.000002	T	0.66268	0.2772	L	0.46567	1.45	0.58432	D	0.99999	B;P	0.48350	0.194;0.909	B;B	0.39876	0.196;0.312	T	0.71527	-0.4566	10	0.72032	D	0.01	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	281;285	P61073;P61073-2	CXCR4_HUMAN;.	R	285;281;151	ENSP00000386884:H285R;ENSP00000241393:H281R	ENSP00000241393:H281R	H	-	2	0	CXCR4	136589126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.398000	0.52579	2.367000	0.80283	0.528000	0.53228	CAC		PASS	0.488	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			154	585	154	585	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163393587	163393587	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:163393587G>A	ENST00000332142.5	-	3	410	c.311C>T	c.(310-312)tCc>tTc	p.S104F	KCNH7_ENST00000328032.4_Missense_Mutation_p.S104F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	104	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.S104F(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATAAAAGTGGACCCTAAGGA	0.299																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(310-312)TCC>TTC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						75.0	74.0	74.0					2																	163393587		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163393587G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.311C>T	2.37:g.163393587G>A	ENSP00000331727:p.Ser104Phe					KCNH7_uc002uci.2_Missense_Mutation_p.S104F	p.S104F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			3	523	-			104			Cytoplasmic (Potential).|PAC.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.311C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962569	0.74016	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99685	-6.4;-6.4	5.55	5.55	0.83447	PAS fold-3 (1);PAS (1);	.	.	.	.	D	0.99718	0.9891	M	0.91972	3.26	0.80722	D	1	D;P	0.60575	0.988;0.582	P;P	0.59703	0.862;0.536	D	0.98010	1.0365	9	0.51188	T	0.08	.	19.5013	0.95095	0.0:0.0:1.0:0.0	.	104;104	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	104	ENSP00000331727:S104F;ENSP00000333781:S104F	ENSP00000333781:S104F	S	-	2	0	KCNH7	163101833	1.000000	0.71417	0.686000	0.30086	0.683000	0.39861	9.476000	0.97823	2.609000	0.88269	0.555000	0.69702	TCC		PASS	0.299	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		41	70	41	70	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167141224	167141224	+	Silent	SNP	G	G	A	rs200876333		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:167141224G>A	ENST00000409435.1	-	11	1712	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A	SCN9A_ENST00000375387.4_Silent_p.A572A|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.A571A|SCN9A_ENST00000303354.6_Silent_p.A572A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	571					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.A571A(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTCATCATCGGCAAATTCAG	0.493																																						uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1711-1713)GCC>GCT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						88.0	91.0	90.0					2																	167141224		2030	4206	6236	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141224G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1713C>T	2.37:g.167141224G>A						uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.A442A|SCN9A_uc002uds.1_Silent_p.A442A|SCN9A_uc002udt.1_Silent_p.A442A	p.A571A	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2054	-			571					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1713C>T	CCDS46441.1																																																																																				PASS	0.493	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		29	91	29	91	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171693312	171693312	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:171693312G>A	ENST00000358196.3	+	6	1107	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R186Q|GAD1_ENST00000344257.5_Missense_Mutation_p.R186Q	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	186					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.R186Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGTCATCCTCGATTTTTCAAC	0.453																																						uc002ugi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(556-558)CGA>CAA		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						172.0	132.0	146.0					2																	171693312		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171693312G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.557G>A	2.37:g.171693312G>A	ENSP00000350928:p.Arg186Gln					GAD1_uc002ugh.2_Missense_Mutation_p.R186Q	p.R186Q	NM_000817	NP_000808	Q99259	DCE1_HUMAN			6	979	+			186					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.557G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554481	0.96501	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.37584	1.19;1.19;1.19	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.926	T	0.65405	-0.6176	10	0.87932	D	0	-0.6557	19.5682	0.95404	0.0:0.0:1.0:0.0	.	186;186	Q99259;Q99259-3	DCE1_HUMAN;.	Q	186	ENSP00000350928:R186Q;ENSP00000364421:R186Q;ENSP00000341167:R186Q	ENSP00000341167:R186Q	R	+	2	0	GAD1	171401558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.639000	0.89480	0.545000	0.68477	CGA		PASS	0.453	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			26	37	26	37	---	---	---	---
HNRNPA3	220988	broad.mit.edu	37	2	178080348	178080348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:178080348C>T	ENST00000392524.2	+	2	391	c.154C>T	c.(154-156)Cga>Tga	p.R52*	MIR4444-1_ENST00000581696.1_RNA|HNRNPA3_ENST00000411529.2_Nonsense_Mutation_p.R30*|AC079305.8_ENST00000455416.1_RNA|HNRNPA3_ENST00000435711.1_Nonsense_Mutation_p.R52*			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	52	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R52*(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TGATAGTTTACGAGAACATTT	0.428																																						uc002ulb.1																			3	Substitution - Nonsense(3)		large_intestine(1)|lung(1)|breast(1)	ovary(2)	2						c.(154-156)CGA>TGA		heterogeneous nuclear ribonucleoprotein A3							66.0	66.0	66.0					2																	178080348		2203	4295	6498	SO:0001587	stop_gained	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080348C>T	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.154C>T	2.37:g.178080348C>T	ENSP00000376309:p.Arg52*					HNRNPA3_uc002ulc.1_Nonsense_Mutation_p.R52*|HNRNPA3_uc002uld.2_Nonsense_Mutation_p.R30*|HNRNPA3_uc002ule.2_5'Flank	p.R52*	NM_194247	NP_919223	P51991	ROA3_HUMAN			2	260	+			52			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Nonsense_Mutation	SNP	ENST00000392524.2	37	c.154C>T	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	A	37	6.504984	0.97620	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	.	.	.	4.22	4.22	0.49857	.	0.000000	0.50627	U	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1344	0.48367	0.8447:0.1553:0.0:0.0	.	.	.	.	X	52;30;30;30;52	.	ENSP00000376309:R52X	R	+	1	2	HNRNPA3	177788594	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.529000	0.45632	0.615000	0.30124	-0.824000	0.03097	CGA		PASS	0.428	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		31	104	31	104	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179396364	179396364	+	Missense_Mutation	SNP	G	G	A	rs368945564		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:179396364G>A	ENST00000591111.1	-	308	100279	c.100055C>T	c.(100054-100056)aCg>aTg	p.T33352M	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26120M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26053M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25928M|TTN_ENST00000589042.1_Missense_Mutation_p.T34993M|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32425M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33352	Ig-like 146.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T32425M(2)|p.T26053M(2)|p.T25928M(2)|p.T32423M(2)|p.T26120M(2)|p.T32425K(1)|p.T25928K(1)|p.T26053K(1)|p.T32423K(1)|p.T26120K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTCCACTCGTGTTGGTGTA	0.453																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(97273-97275)ACG>ATG		titin isoform N2-A		G	MET/THR,MET/THR,MET/THR,MET/THR	0,3918		0,0,1959	135.0	130.0	132.0		78359,78158,97274,77783	-0.2	0.2	2		132	1,8327		0,1,4163	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	81,81,81,81	0,1,6122	AA,AG,GG		0.012,0.0,0.0082	benign,benign,benign,benign	26120/27119,26053/27052,32425/33424,25928/26927	179396364	1,12245	1959	4164	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396364G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100055C>T	2.37:g.179396364G>A	ENSP00000465570:p.Thr33352Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120M|TTN_uc010zfi.1_Missense_Mutation_p.T26053M|TTN_uc010zfj.1_Missense_Mutation_p.T25928M|TTN_uc002umq.2_5'Flank	p.T32425M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97498	-			33352					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97274C>T		.	.	.	.	.	.	.	.	.	.	G	6.856	0.527205	0.13066	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.56	-0.226	0.13106	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56202	0.1969	L	0.38692	1.165	0.21652	N	0.9996	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.10450	0.002;0.002;0.005;0.005	T	0.46527	-0.9185	9	0.87932	D	0	.	12.274	0.54724	0.3208:0.0:0.6792:0.0	.	25928;26053;26120;33352	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	32425;25928;26120;26053;25925	ENSP00000343764:T32425M;ENSP00000434586:T25928M;ENSP00000340554:T26120M;ENSP00000352154:T26053M	ENSP00000340554:T26120M	T	-	2	0	TTN	179104610	0.977000	0.34250	0.183000	0.23137	0.309000	0.27889	2.098000	0.41757	-0.703000	0.05049	-1.884000	0.00543	ACG		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	75	55	75	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179435080	179435080	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:179435080T>G	ENST00000591111.1	-	276	71080	c.70856A>C	c.(70855-70857)cAg>cCg	p.Q23619P	TTN_ENST00000342175.6_Missense_Mutation_p.Q16387P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16320P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16195P|TTN_ENST00000589042.1_Missense_Mutation_p.Q25260P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q22692P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23619	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q16320P(1)|p.Q16387P(1)|p.Q22690P(1)|p.Q16195P(1)|p.Q22692P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAGAGTCTGCACATTGGC	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(68074-68076)CAG>CCG		titin isoform N2-A							62.0	59.0	60.0					2																	179435080		1939	4136	6075	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435080T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70856A>C	2.37:g.179435080T>G	ENSP00000465570:p.Gln23619Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q16387P|TTN_uc010zfi.1_Missense_Mutation_p.Q16320P|TTN_uc010zfj.1_Missense_Mutation_p.Q16195P	p.Q22692P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68299	-			23619					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.68075A>C		.	.	.	.	.	.	.	.	.	.	T	11.27	1.590448	0.28357	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.87	4.7	0.59300	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51787	0.1695	N	0.13352	0.335	0.58432	D	0.999995	D;D;D;D	0.65815	0.995;0.995;0.995;0.99	P;P;P;P	0.60415	0.874;0.874;0.874;0.825	T	0.58064	-0.7702	9	0.87932	D	0	.	12.5935	0.56454	0.1242:0.0:0.0:0.8758	.	16195;16320;16387;23619	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	22692;16195;16387;16320;16193	ENSP00000343764:Q22692P;ENSP00000434586:Q16195P;ENSP00000340554:Q16387P;ENSP00000352154:Q16320P	ENSP00000340554:Q16387P	Q	-	2	0	TTN	179143326	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	6.189000	0.72051	1.005000	0.39183	0.528000	0.53228	CAG		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	53	9	53	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190335583	190335583	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:190335583A>C	ENST00000314761.4	+	18	2088	c.2028A>C	c.(2026-2028)aaA>aaC	p.K676N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	676						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K676N(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CAGAAGAAAAACTCACACCAA	0.348																																						uc002uql.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2026-2028)AAA>AAC		WD repeat domain 75							70.0	65.0	67.0					2																	190335583		2202	4299	6501	SO:0001583	missense	84128					nucleolus		g.chr2:190335583A>C	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2028A>C	2.37:g.190335583A>C	ENSP00000314193:p.Lys676Asn					WDR75_uc002uqm.1_Missense_Mutation_p.K612N|WDR75_uc002uqn.1_Missense_Mutation_p.K454N|WDR75_uc002uqo.1_Missense_Mutation_p.K454N	p.K676N	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		18	2088	+			676					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.2028A>C	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847097	0.71603	.	.	ENSG00000115368	ENST00000314761	T	0.62941	-0.01	5.66	-0.587	0.11690	.	0.145632	0.64402	D	0.000007	T	0.56572	0.1994	L	0.51422	1.61	0.41667	D	0.989218	D;D	0.54772	0.968;0.967	P;P	0.48704	0.587;0.582	T	0.53627	-0.8412	10	0.32370	T	0.25	-28.2856	9.7587	0.40519	0.4548:0.0:0.5452:0.0	.	676;676	A8K330;Q8IWA0	.;WDR75_HUMAN	N	676	ENSP00000314193:K676N	ENSP00000314193:K676N	K	+	3	2	WDR75	190043828	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	0.449000	0.21744	-0.098000	0.12285	0.460000	0.39030	AAA		PASS	0.348	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		11	30	11	30	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196892735	196892735	+	Silent	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:196892735A>G	ENST00000312428.6	-	6	535	c.435T>C	c.(433-435)gaT>gaC	p.D145D	DNAH7_ENST00000410072.1_Silent_p.D145D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	145	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D145D(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTGCTTCCATCAGGGACAG	0.378																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(433-435)GAT>GAC		dynein, axonemal, heavy chain 7							186.0	179.0	181.0					2																	196892735		1846	4092	5938	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196892735A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.435T>C	2.37:g.196892735A>G							p.D145D	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			6	536	-			145			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.435T>C	CCDS42794.1																																																																																				PASS	0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		99	169	99	169	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211525340	211525340	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:211525340G>T	ENST00000233072.5	+	32	4084	c.3888G>T	c.(3886-3888)ttG>ttT	p.L1296F	CPS1_ENST00000430249.2_Missense_Mutation_p.L1302F|CPS1_ENST00000451903.2_Missense_Mutation_p.L845F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1296					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.L1296F(1)|p.L1302F(1)		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)	TTCCAACATTGGACCATCCCA	0.363																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3886-3888)TTG>TTT		carbamoyl-phosphate synthetase 1 isoform b							169.0	150.0	156.0					2																	211525340		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.chr2:211525340G>T	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.3888G>T	2.37:g.211525340G>T	ENSP00000233072:p.Leu1296Phe					CPS1_uc010fur.2_Missense_Mutation_p.L1302F|CPS1_uc010fus.2_Missense_Mutation_p.L845F	p.L1296F	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)	32	4020	+			1296					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3888G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200588	0.58126	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.63096	-0.02;-0.02;-0.02	5.98	4.93	0.64822	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	N	0.04880	-0.145	0.47547	D	0.999454	D;D	0.57257	0.979;0.979	P;P	0.51657	0.676;0.676	T	0.58775	-0.7577	10	0.45353	T	0.12	-5.4305	16.0981	0.81144	0.0741:0.0:0.9259:0.0	.	1306;1296	Q59HF8;P31327	.;CPSM_HUMAN	F	1302;1304;1296;845	ENSP00000402608:L1302F;ENSP00000233072:L1296F;ENSP00000406136:L845F	ENSP00000233072:L1296F	L	+	3	2	CPS1	211233585	1.000000	0.71417	0.982000	0.44146	0.876000	0.50452	2.866000	0.48420	2.838000	0.97847	0.655000	0.94253	TTG		PASS	0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			43	179	43	179	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214794767	214794767	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:214794767A>T	ENST00000331683.5	+	12	1393	c.1298A>T	c.(1297-1299)gAa>gTa	p.E433V	SPAG16_ENST00000374309.3_Missense_Mutation_p.E339V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	433					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E433V(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGACCTTTGAAGGACACAGC	0.433																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1297-1299)GAA>GTA		sperm associated antigen 16 isoform 1							117.0	115.0	116.0					2																	214794767		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794767A>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1298A>T	2.37:g.214794767A>T	ENSP00000332592:p.Glu433Val					SPAG16_uc010fuz.1_Missense_Mutation_p.E284V|SPAG16_uc002ver.2_Missense_Mutation_p.E379V|SPAG16_uc010zjk.1_Missense_Mutation_p.E339V	p.E433V	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1390	+		Renal(323;0.00461)	433					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1298A>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568613	0.28003	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.60920	0.15;0.15	5.48	4.12	0.48240	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.366225	0.24927	N	0.034497	T	0.58963	0.2159	L	0.33710	1.025	0.39131	D	0.961846	D;D;B;D	0.62365	0.991;0.989;0.131;0.991	P;P;B;P	0.59288	0.855;0.773;0.102;0.855	T	0.60244	-0.7301	10	0.40728	T	0.16	.	10.8592	0.46817	0.9109:0.0:0.0891:0.0	.	339;284;373;433	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	V	433;339	ENSP00000332592:E433V;ENSP00000363428:E339V	ENSP00000332592:E433V	E	+	2	0	SPAG16	214503012	1.000000	0.71417	0.991000	0.47740	0.126000	0.20510	2.326000	0.43849	2.061000	0.61500	0.533000	0.62120	GAA		PASS	0.433	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		32	138	32	138	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225669817	225669817	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:225669817C>T	ENST00000258390.7	-	37	4143	c.4076G>A	c.(4075-4077)aGa>aAa	p.R1359K	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1353K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1359					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1357K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTGGGAGCTCTCTGCCAGTA	0.378																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4075-4077)AGA>AAA		dedicator of cytokinesis 10							39.0	40.0	40.0					2																	225669817		1843	4079	5922	SO:0001583	missense	55619						GTP binding	g.chr2:225669817C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4076G>A	2.37:g.225669817C>T	ENSP00000258390:p.Arg1359Lys					DOCK10_uc002vob.2_Missense_Mutation_p.R1353K|DOCK10_uc002voa.2_Missense_Mutation_p.R15K|DOCK10_uc002voc.2_Missense_Mutation_p.R213K	p.R1359K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	37	4315	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1359					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4076G>A	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.65|13.65	2.299264|2.299264	0.40694|0.40694	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.01599	.|4.74;4.74	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.17631|0.17631	0.505|0.505	0.43126|0.43126	D|D	0.994854|0.994854	.|D;D;P;B	.|0.64830	.|0.994;0.982;0.95;0.002	.|D;D;P;B	.|0.72338	.|0.977;0.952;0.526;0.004	T|T	0.54022|0.54022	-0.8355|-0.8355	5|10	.|0.02654	.|T	.|1	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1359;213;1353;21	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	K|K	241|1353;1359	.|ENSP00000386694:R1353K;ENSP00000258390:R1359K	.|ENSP00000258390:R1359K	E|R	-|-	1|2	0|0	DOCK10|DOCK10	225378061|225378061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.039000|7.039000	0.76544|0.76544	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			18	29	18	29	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9786059	9786059	+	Silent	SNP	C	C	T	rs369407011		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:9786059C>T	ENST00000457855.1	+	8	2780	c.2769C>T	c.(2767-2769)caC>caT	p.H923H	BRPF1_ENST00000383829.2_Silent_p.H929H|BRPF1_ENST00000424362.1_Silent_p.H922H|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Silent_p.H923H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	923	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H929H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCCCCAGCCACGGAGGCAGTC	0.667																																						uc003bse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2767-2769)CAC>CAT		bromodomain and PHD finger-containing protein 1		C	,	0,4402		0,0,2201	16.0	21.0	20.0		2787,2769	1.0	1.0	3		20	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous	BRPF1	NM_001003694.1,NM_004634.2	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	929/1221,923/1215	9786059	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9786059C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2769C>T	3.37:g.9786059C>T						BRPF1_uc003bsf.2_Silent_p.H929H|BRPF1_uc003bsg.2_Silent_p.H922H|BRPF1_uc011ati.1_Intron	p.H923H	NM_004634	NP_004625	P55201	BRPF1_HUMAN			9	3168	+	Medulloblastoma(99;0.227)		923			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.2769C>T	CCDS2575.1																																																																																				PASS	0.667	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		23	13	23	13	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41979618	41979618	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:41979618G>T	ENST00000301831.4	-	3	672	c.210C>A	c.(208-210)caC>caA	p.H70Q	ULK4_ENST00000420927.1_Missense_Mutation_p.H70Q|ULK4_ENST00000414606.1_Missense_Mutation_p.H70Q	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H70Q(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTAGCCAGAGGTGGTTGCTTG	0.348																																						uc003ckv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)CAC>CAA		unc-51-like kinase 4							129.0	118.0	121.0					3																	41979618		1846	4091	5937	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41979618G>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.210C>A	3.37:g.41979618G>T	ENSP00000301831:p.His70Gln					ULK4_uc003ckw.2_Missense_Mutation_p.H70Q|ULK4_uc003ckx.1_Missense_Mutation_p.H70Q	p.H70Q	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	3	411	-			70			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.210C>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489876	0.64074	.	.	ENSG00000168038	ENST00000301831;ENST00000420927;ENST00000414606	T;T;T	0.65549	-0.16;-0.16;-0.16	5.47	-0.761	0.11038	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045099	0.85682	D	0.000000	T	0.65606	0.2707	L	0.41573	1.285	0.33769	D	0.622844	D;D	0.71674	0.996;0.998	D;D	0.70487	0.969;0.958	T	0.71368	-0.4614	10	0.87932	D	0	.	9.6989	0.40173	0.6372:0.0:0.3628:0.0	.	70;70	B4E2M4;Q96C45	.;ULK4_HUMAN	Q	70	ENSP00000301831:H70Q;ENSP00000412187:H70Q;ENSP00000399382:H70Q	ENSP00000301831:H70Q	H	-	3	2	ULK4	41954622	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.305000	0.33493	-0.069000	0.12931	-0.312000	0.09012	CAC		PASS	0.348	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		35	30	35	30	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47316827	47316827	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:47316827C>T	ENST00000265529.3	-	4	927	c.247G>A	c.(247-249)Gat>Aat	p.D83N	KIF9_ENST00000432493.1_Missense_Mutation_p.D83N|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.D83N|KIF9_ENST00000335044.2_Missense_Mutation_p.D83N|KIF9_ENST00000425853.1_Missense_Mutation_p.D83N|KIF9_ENST00000425452.1_Missense_Mutation_p.D97N|KIF9_ENST00000444589.2_Missense_Mutation_p.D83N|KIF9_ENST00000352910.4_Silent_p.S25S			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	83	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.D83N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTATAGCCATCGAGGGCCTGA	0.388																																					Colon(44;962 1147 15977 24541)	uc010hjp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(247-249)GAT>AAT		kinesin family member 9 isoform 2							100.0	94.0	96.0					3																	47316827		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47316827C>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.247G>A	3.37:g.47316827C>T	ENSP00000265529:p.Asp83Asn					KIF9_uc003cqx.2_Missense_Mutation_p.D83N|KIF9_uc003cqy.2_Missense_Mutation_p.D83N|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA|KIF9_uc003cra.3_RNA	p.D83N	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	4	851	-		Acute lymphoblastic leukemia(5;0.164)	83			Kinesin-motor.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.247G>A	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893989	0.33442	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000456548;ENST00000432493;ENST00000425853;ENST00000425452	T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;2.25;2.25;2.25;2.25	4.96	0.94	0.19513	Kinesin, motor domain (4);	0.317744	0.32204	N	0.006421	T	0.54775	0.1879	L	0.37507	1.11	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.18561	0.005;0.022	T	0.32534	-0.9903	10	0.19590	T	0.45	.	8.8393	0.35131	0.0:0.638:0.1023:0.2596	.	83;83	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	N	83;83;83;83;83;83;83;97	ENSP00000333942:D83N;ENSP00000265529:D83N;ENSP00000414987:D83N;ENSP00000391100:D83N;ENSP00000387959:D83N;ENSP00000391099:D83N;ENSP00000406815:D83N;ENSP00000406603:D97N	ENSP00000265529:D83N	D	-	1	0	KIF9	47291831	0.018000	0.18449	0.958000	0.39756	0.937000	0.57800	0.087000	0.14958	-0.140000	0.11394	-1.731000	0.00696	GAT		PASS	0.388	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			35	31	35	31	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74334634	74334634	+	Silent	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:74334634G>A	ENST00000263665.6	-	19	2553	c.2526C>T	c.(2524-2526)taC>taT	p.Y842Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	842	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Y842Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCCATTCCAGTACCGCACCT	0.463																																						uc003dpm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2524-2526)TAC>TAT		contactin 3 precursor							140.0	127.0	131.0					3																	74334634		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334634G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2526C>T	3.37:g.74334634G>A							p.Y842Y	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2606	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	842			Fibronectin type-III 3.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2526C>T	CCDS33790.1																																																																																				PASS	0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		111	93	111	93	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97869132	97869132	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:97869132C>A	ENST00000437310.1	+	1	963	c.903C>A	c.(901-903)ttC>ttA	p.F301L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F301L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TAGCTTCATTCACAAAAATGT	0.303																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(901-903)TTC>TTA		olfactory receptor, family 5, subfamily H,							32.0	32.0	32.0					3																	97869132		2200	4294	6494	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97869132C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.903C>A	3.37:g.97869132C>A	ENSP00000401706:p.Phe301Leu						p.F301L	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	903	+			301			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.903C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976770	0.00452	.	.	ENSG00000236032	ENST00000437310	T	0.34072	1.38	2.49	0.4	0.16331	.	0.759301	0.10760	N	0.637227	T	0.09158	0.0226	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.02654	T	1	.	3.3188	0.07043	0.2922:0.2288:0.479:0.0	.	301	A6NHG9	O5H14_HUMAN	L	301	ENSP00000401706:F301L	ENSP00000401706:F301L	F	+	3	2	OR5H14	99351822	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.282000	0.02799	-0.070000	0.12908	0.195000	0.17529	TTC		PASS	0.303	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			9	119	9	119	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97984036	97984036	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:97984036C>G	ENST00000383696.2	+	1	949	c.908C>G	c.(907-909)cCc>cGc	p.P303R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P303R(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATTAAATCCCATGATCTAC	0.378																																						uc003dsi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(907-909)CCC>CGC		olfactory receptor, family 5, subfamily H,							60.0	60.0	60.0					3																	97984036		2199	4293	6492	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984036C>G	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.908C>G	3.37:g.97984036C>G	ENSP00000373196:p.Pro303Arg						p.P303R	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	908	+			303			Helical; Name=7; (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.908C>G	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.94	2.088645	0.36855	.	.	ENSG00000230301	ENST00000383696	T	0.64085	-0.08	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.77579	0.4151	H	0.99286	4.5	0.35597	D	0.807577	B	0.25850	0.136	B	0.33042	0.157	T	0.83231	-0.0063	10	0.87932	D	0	.	10.0598	0.42268	0.0:1.0:0.0:0.0	.	303	Q8NGV6	OR5H6_HUMAN	R	303	ENSP00000373196:P303R	ENSP00000373196:P303R	P	+	2	0	OR5H6	99466726	0.999000	0.42202	0.560000	0.28344	0.280000	0.26924	6.081000	0.71309	1.220000	0.43490	0.194000	0.17425	CCC		PASS	0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			13	130	13	130	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100105680	100105680	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:100105680T>C	ENST00000284320.5	-	2	915	c.467A>G	c.(466-468)tAt>tGt	p.Y156C		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	156					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.Y156C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTGTTTTGATAAAATGTAGA	0.348																																						uc003dtw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)TAT>TGT		translocase of outer mitochondrial membrane 70							117.0	117.0	117.0					3																	100105680		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105680T>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.467A>G	3.37:g.100105680T>C	ENSP00000284320:p.Tyr156Cys						p.Y156C	NM_014820	NP_055635	O94826	TOM70_HUMAN			2	899	-			156			Cytoplasmic (Potential).|TPR 2.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.467A>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387681	0.82902	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.65916	-0.18	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88332	0.6408	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93182	0.6575	10	0.87932	D	0	-13.4559	16.3948	0.83586	0.0:0.0:0.0:1.0	.	156	O94826	TOM70_HUMAN	C	156;49	ENSP00000284320:Y156C	ENSP00000284320:Y156C	Y	-	2	0	TOMM70A	101588370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.326000	0.78906	0.533000	0.62120	TAT		PASS	0.348	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			45	145	45	145	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101284244	101284244	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:101284244T>G	ENST00000309922.6	+	2	773	c.619T>G	c.(619-621)Ttt>Gtt	p.F207V		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	207	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.F207V(1)									ACCTTTGGTTTTTGACATGGC	0.393																																						uc003duz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TTT>GTT		RNA (guanine-9-) methyltransferase domain							82.0	76.0	78.0					3																	101284244		1846	4089	5935	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101284244T>G	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.619T>G	3.37:g.101284244T>G	ENSP00000312356:p.Phe207Val						p.F207V	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	767	+			207					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.619T>G	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193124	0.78902	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.25579	2.49;1.79	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.47016	1.485	0.58432	D	0.999999	D	0.71674	0.998	D	0.69307	0.963	T	0.11036	-1.0604	10	0.12103	T	0.63	-3.9287	16.4484	0.83959	0.0:0.0:0.0:1.0	.	207	Q7L0Y3	MRRP1_HUMAN	V	207	ENSP00000312356:F207V;ENSP00000419389:F207V	ENSP00000312356:F207V	F	+	1	0	RG9MTD1	102766934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.285000	0.76669	0.533000	0.62120	TTT		PASS	0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		31	288	31	288	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102181156	102181156	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:102181156C>G	ENST00000491959.1	+	13	1496	c.614C>G	c.(613-615)cCc>cGc	p.P205R	ZPLD1_ENST00000466937.1_Missense_Mutation_p.P205R|ZPLD1_ENST00000306176.1_Missense_Mutation_p.P221R			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	205	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.P221R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTAATTATCCCCAGTATAGGA	0.343																																						uc003dvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(613-615)CCC>CGC		zona pellucida-like domain containing 1							89.0	88.0	88.0					3																	102181156		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102181156C>G	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.614C>G	3.37:g.102181156C>G	ENSP00000420265:p.Pro205Arg					ZPLD1_uc003dvt.1_Missense_Mutation_p.P221R|ZPLD1_uc011bhg.1_Missense_Mutation_p.P205R	p.P205R	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			13	1496	+			205			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.614C>G		.	.	.	.	.	.	.	.	.	.	C	19.79	3.892694	0.72524	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.81908	-1.55;-1.55;-1.55	5.28	4.41	0.53225	Zona pellucida sperm-binding protein (3);	0.048123	0.85682	D	0.000000	D	0.88771	0.6527	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87355	0.2340	10	0.34782	T	0.22	-4.7266	13.7953	0.63166	0.0:0.9256:0.0:0.0744	.	221;205	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	R	205;221;205	ENSP00000420265:P205R;ENSP00000307801:P221R;ENSP00000418253:P205R	ENSP00000307801:P221R	P	+	2	0	ZPLD1	103663846	1.000000	0.71417	0.906000	0.35671	0.998000	0.95712	7.378000	0.79679	1.207000	0.43291	0.591000	0.81541	CCC		PASS	0.343	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		12	106	12	106	---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134089920	134089920	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:134089920G>A	ENST00000422605.2	-	2	522	c.356C>T	c.(355-357)gCc>gTc	p.A119V	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A119V|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A177V|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A119V			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	119					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)		p.A119V(1)		endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCCTGCTGGGCCGCATAGTA	0.687																																						uc003eqf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(529-531)GCC>GTC		angiomotin like 2							50.0	43.0	45.0					3																	134089920		2203	4299	6502	SO:0001583	missense	51421							g.chr3:134089920G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.356C>T	3.37:g.134089920G>A	ENSP00000409999:p.Ala119Val					AMOTL2_uc003eqg.1_Missense_Mutation_p.A119V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A119V	p.A177V	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			2	647	-			119					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.530C>T		.	.	.	.	.	.	.	.	.	.	G	12.42	1.933003	0.34096	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145;ENST00000510560;ENST00000504234;ENST00000505596;ENST00000506107;ENST00000515172	T;T;T;T;T;T;T;T;T	0.43294	1.66;1.66;1.66;1.66;1.66;1.66;0.95;3.23;3.23	4.81	3.86	0.44501	.	0.376195	0.29609	N	0.011666	T	0.32436	0.0829	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30361	0.277;0.277;0.181	B;B;B	0.29942	0.109;0.109;0.051	T	0.42103	-0.9471	10	0.72032	D	0.01	-11.7059	16.9886	0.86347	0.0:0.2043:0.7957:0.0	.	119;119;177	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	V	119;119;177;119;119;119;119;119;119	ENSP00000249883:A119V;ENSP00000409999:A119V;ENSP00000424765:A177V;ENSP00000425475:A119V;ENSP00000427184:A119V;ENSP00000424910:A119V;ENSP00000427292:A119V;ENSP00000422658:A119V;ENSP00000427482:A119V	ENSP00000249883:A119V	A	-	2	0	AMOTL2	135572610	0.763000	0.28462	0.974000	0.42286	0.552000	0.35366	2.723000	0.47277	2.354000	0.79902	0.462000	0.41574	GCC		PASS	0.687	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		12	42	12	42	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148757868	148757868	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:148757868C>T	ENST00000310053.5	-	21	2645	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T	HLTF_ENST00000494055.1_Missense_Mutation_p.A818T|HLTF_ENST00000465259.1_Missense_Mutation_p.A817T|HLTF_ENST00000392912.2_Missense_Mutation_p.A818T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	818					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A818T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGTCACGTGCTAATTCTTCT	0.323																																						uc003ewq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2452-2454)GCA>ACA		helicase-like transcription factor							135.0	125.0	128.0					3																	148757868		2203	4298	6501	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148757868C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2452G>A	3.37:g.148757868C>T	ENSP00000308944:p.Ala818Thr					HLTF_uc003ewr.1_Missense_Mutation_p.A818T|HLTF_uc003ews.1_Missense_Mutation_p.A817T|HLTF_uc010hve.1_Missense_Mutation_p.A817T	p.A818T	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		21	2670	-			818					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2452G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	4.764	0.142070	0.09083	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.33	5.5	0.779	0.18550	.	.	.	.	.	T	0.80059	0.4554	L	0.36672	1.1	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.61118	-0.7127	9	0.15066	T	0.55	-4.6402	6.7487	0.23475	0.1499:0.6116:0.0:0.2385	.	818;818;818	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	817;818;818;818;286	ENSP00000420745:A817T;ENSP00000308944:A818T;ENSP00000376644:A818T;ENSP00000420429:A818T;ENSP00000420106:A286T	ENSP00000308944:A818T	A	-	1	0	HLTF	150240558	0.102000	0.21896	0.154000	0.22540	0.393000	0.30537	0.346000	0.19997	0.192000	0.20272	0.650000	0.86243	GCA		PASS	0.323	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			23	108	23	108	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173993266	173993266	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:173993266C>A	ENST00000457714.1	+	5	1237	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	NLGN1_ENST00000361589.4_Missense_Mutation_p.L270M|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.L310M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L270M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	287					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.L270M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTCAACCTGCTGACTTTATC	0.418																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(808-810)CTG>ATG		neuroligin 1							91.0	88.0	89.0					3																	173993266		2203	4299	6502	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993266C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.808C>A	3.37:g.173993266C>A	ENSP00000392500:p.Leu270Met					NLGN1_uc010hww.1_Missense_Mutation_p.L310M|NLGN1_uc003fip.1_Missense_Mutation_p.L270M	p.L270M	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1231	+	Ovarian(172;0.0025)		287			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.808C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502202	0.64298	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.84170	0.5413	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85294	0.1069	10	0.66056	D	0.02	.	6.6935	0.23185	0.0:0.7993:0.0:0.2007	.	310;270	D2X2H5;Q8N2Q7-2	.;.	M	270;270;310;270;310	ENSP00000392500:L270M;ENSP00000354541:L270M;ENSP00000410374:L310M;ENSP00000441108:L270M;ENSP00000385750:L310M	ENSP00000354541:L270M	L	+	1	2	NLGN1	175475960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.824000	0.55723	2.937000	0.99478	0.650000	0.86243	CTG		PASS	0.418	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		67	138	67	138	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180364958	180364958	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:180364958G>A	ENST00000442201.2	-	11	1555	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CCDC39_ENST00000273654.4_Missense_Mutation_p.A563V	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	479					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.A479V(1)|p.A563V(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGCTTCAAGCGCTTGTTTTTC	0.343																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1435-1437)GCG>GTG		coiled-coil domain containing 39							120.0	107.0	111.0					3																	180364958		1786	4056	5842	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180364958G>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1436C>T	3.37:g.180364958G>A	ENSP00000405708:p.Ala479Val					CCDC39_uc003fkn.2_RNA	p.A479V	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		11	1551	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		479			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1436C>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	2.543	-0.305951	0.05458	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.25579	1.79;1.79	5.41	0.202	0.15190	.	0.665207	0.15921	N	0.238125	T	0.12178	0.0296	L	0.28014	0.82	0.30524	N	0.768096	B	0.18610	0.029	B	0.09377	0.004	T	0.16453	-1.0402	10	0.22109	T	0.4	2.1439	1.9265	0.03318	0.212:0.2884:0.3656:0.134	.	479	Q9UFE4	CCD39_HUMAN	V	563;479	ENSP00000273654:A563V;ENSP00000405708:A479V	ENSP00000273654:A563V	A	-	2	0	CCDC39	181847652	0.000000	0.05858	0.273000	0.24645	0.873000	0.50193	0.190000	0.17057	0.336000	0.23639	0.650000	0.86243	GCG		PASS	0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		14	65	14	65	---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184024268	184024268	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:184024268C>T	ENST00000310118.4	+	15	2493	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	PSMD2_ENST00000439383.1_Silent_p.D515D|PSMD2_ENST00000435761.1_Silent_p.D486D|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	645					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 protein catabolic process (GO:0042176)|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)	enzyme regulator activity (GO:0030234)	p.D645D(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCCCTGCTGACATGGGAGCAC	0.478																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1933-1935)GAC>GAT		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						95.0	88.0	91.0					3																	184024268		2203	4299	6502	SO:0001819	synonymous_variant	5708				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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184024268C>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1935C>T	3.37:g.184024268C>T						PSMD2_uc011brj.1_Silent_p.D486D|PSMD2_uc011brk.1_Silent_p.D515D	p.D645D	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1968	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		645					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.1935C>T	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	8.957	0.969614	0.18659	.	.	ENSG00000175166	ENST00000432855	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.75273	0.3827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72750	-0.4199	4	.	.	.	-31.0362	19.3691	0.94477	0.0:1.0:0.0:0.0	.	.	.	.	I	106	.	.	T	+	2	0	PSMD2	185506962	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.823000	0.39062	2.822000	0.97130	0.650000	0.86243	ACA		PASS	0.478	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		16	170	16	170	---	---	---	---
RTP4	64108	broad.mit.edu	37	3	187089076	187089076	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr3:187089076C>G	ENST00000259030.2	+	2	766	c.656C>G	c.(655-657)cCc>cGc	p.P219R		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	219					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P219R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AAATTAGGGCCCAGTCGAGAC	0.453																																						uc003frm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CCC>CGC		28kD interferon responsive protein							97.0	79.0	85.0					3																	187089076		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089076C>G	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.656C>G	3.37:g.187089076C>G	ENSP00000259030:p.Pro219Arg						p.P219R	NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	718	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		219			Cytoplasmic (Potential).		Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.656C>G	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	C	6.211	0.406998	0.11754	.	.	ENSG00000136514	ENST00000259030	T	0.16597	2.33	2.04	2.04	0.26737	.	1.600050	0.04901	N	0.451346	T	0.19327	0.0464	N	0.14661	0.345	0.09310	N	1	P	0.51933	0.949	P	0.54924	0.764	T	0.34875	-0.9811	10	0.52906	T	0.07	.	7.6372	0.28274	0.0:1.0:0.0:0.0	.	219	Q96DX8	RTP4_HUMAN	R	219	ENSP00000259030:P219R	ENSP00000259030:P219R	P	+	2	0	RTP4	188571770	0.001000	0.12720	0.053000	0.19242	0.038000	0.13279	-0.050000	0.11904	1.461000	0.47929	0.655000	0.94253	CCC		PASS	0.453	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		9	101	9	101	---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6325261	6325261	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:6325261C>T	ENST00000382599.4	-	9	1328	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.R371Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R364Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R354Q|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R364Q			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	371					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R371Q(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGTCACGTCCCGCTTGGTGTT	0.632																																						uc003gjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1111-1113)CGG>CAG		gamma isoform of regulatory subunit B55, protein							61.0	54.0	57.0					4																	6325261		2202	4300	6502	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6325261C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1112G>A	4.37:g.6325261C>T	ENSP00000372042:p.Arg371Gln					PPP2R2C_uc003gjb.2_Missense_Mutation_p.R354Q|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R364Q|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R364Q|PPP2R2C_uc003gja.2_Missense_Mutation_p.R371Q	p.R371Q	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			9	1482	-			371			WD 6.		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.1112G>A		.	.	.	.	.	.	.	.	.	.	C	17.76	3.467624	0.63625	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.24823	0.112;0.005;0.028;0.051	B;B;B;B	0.11329	0.004;0.004;0.002;0.006	T	0.05435	-1.0885	10	0.22706	T	0.39	-31.0477	16.2691	0.82606	0.0:1.0:0.0:0.0	.	364;371;354;371	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	Q	371;364;354;371;364	ENSP00000335083:R371Q;ENSP00000423649:R364Q;ENSP00000422374:R354Q;ENSP00000372042:R371Q;ENSP00000425247:R364Q	ENSP00000335083:R371Q	R	-	2	0	PPP2R2C	6376162	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	6.711000	0.74675	2.304000	0.77564	0.555000	0.69702	CGG		PASS	0.632	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		14	47	14	47	---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6843887	6843887	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:6843887A>G	ENST00000307659.5	+	4	780	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	KIAA0232_ENST00000425103.1_Missense_Mutation_p.K109E	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	109							ATP binding (GO:0005524)	p.K109E(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAAGAAATGAAAAAACAGGC	0.368																																						uc003gjr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)AAA>GAA		hypothetical protein LOC9778							107.0	112.0	110.0					4																	6843887		1831	4084	5915	SO:0001583	missense	9778						ATP binding	g.chr4:6843887A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.325A>G	4.37:g.6843887A>G	ENSP00000303928:p.Lys109Glu					KIAA0232_uc003gjq.3_Missense_Mutation_p.K109E	p.K109E	NM_014743	NP_055558	Q92628	K0232_HUMAN			4	788	+			109					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.325A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052008	0.75960	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77827	-0.2443	9	0.72032	D	0.01	-7.1502	14.9358	0.70954	1.0:0.0:0.0:0.0	.	109	Q92628	K0232_HUMAN	E	109	.	ENSP00000303928:K109E	K	+	1	0	KIAA0232	6894788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.678000	0.91211	1.911000	0.55334	0.533000	0.62120	AAA		PASS	0.368	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		56	58	56	58	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252458	46252458	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:46252458T>C	ENST00000510861.1	-	10	1396	c.1223A>G	c.(1222-1224)aAg>aGg	p.K408R	GABRA2_ENST00000507069.1_Missense_Mutation_p.K468R|GABRA2_ENST00000514090.1_Missense_Mutation_p.K408R|GABRA2_ENST00000540012.1_Missense_Mutation_p.K413R|GABRA2_ENST00000381620.4_Missense_Mutation_p.K408R|GABRA2_ENST00000356504.1_Missense_Mutation_p.K408R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	408					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K408R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAAGTTTTCTTTGCTTCAGC	0.403																																						uc003gxc.3																			1	Substitution - Missense(1)	p.K408K(1)	lung(1)	ovary(2)|skin(2)	4						c.(1222-1224)AAG>AGG		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						203.0	205.0	205.0					4																	46252458		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252458T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1223A>G	4.37:g.46252458T>C	ENSP00000421828:p.Lys408Arg					GABRA2_uc010igc.2_Missense_Mutation_p.K408R|GABRA2_uc011bzc.1_Missense_Mutation_p.K413R	p.K408R	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	1896	-			408			Cytoplasmic (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1223A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181905	0.38511	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	N	0.21583	0.68	0.53688	D	0.999971	B;B	0.25235	0.091;0.121	B;B	0.26416	0.065;0.069	T	0.73764	-0.3880	10	0.07990	T	0.79	.	15.6192	0.76793	0.0:0.0:0.0:1.0	.	413;408	B7Z1H8;P47869	.;GBRA2_HUMAN	R	408;408;408;408;413;468	ENSP00000421828:K408R;ENSP00000421300:K408R;ENSP00000371033:K408R;ENSP00000348897:K408R;ENSP00000444409:K413R;ENSP00000427603:K468R	ENSP00000348897:K408R	K	-	2	0	GABRA2	45947215	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.040000	0.89188	2.280000	0.76307	0.533000	0.62120	AAG		PASS	0.403	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			115	116	115	116	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55140744	55140744	+	Silent	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:55140744G>A	ENST00000257290.5	+	11	1936	c.1605G>A	c.(1603-1605)ttG>ttA	p.L535L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	535					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L535L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGTGCTGTTGGTGATTGTGA	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1603-1605)TTG>TTA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						190.0	173.0	178.0					4																	55140744		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140744G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1605G>A	4.37:g.55140744G>A		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.L429L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	p.L535L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1936	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		535			Helical; (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.1605G>A	CCDS3495.1																																																																																				PASS	0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		64	81	64	81	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159568269	159568269	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:159568269G>T	ENST00000307765.5	+	16	1923	c.1672G>T	c.(1672-1674)Ggc>Tgc	p.G558C	RXFP1_ENST00000448688.2_Missense_Mutation_p.G453C|RXFP1_ENST00000470033.1_Missense_Mutation_p.G525C|RXFP1_ENST00000460056.2_Missense_Mutation_p.G477C|RXFP1_ENST00000343542.5_Missense_Mutation_p.G510C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	558					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.G558C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTACTATGGCACCAATGG	0.343																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)GGC>TGC		relaxin/insulin-like family peptide receptor 1							82.0	77.0	78.0					4																	159568269		1827	4085	5912	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568269G>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1672G>T	4.37:g.159568269G>T	ENSP00000303248:p.Gly558Cys					RXFP1_uc011cja.1_Missense_Mutation_p.G453C|RXFP1_uc010iqo.2_Missense_Mutation_p.G510C|RXFP1_uc011cjb.1_Missense_Mutation_p.G456C|RXFP1_uc010iqk.2_Missense_Mutation_p.G426C|RXFP1_uc011cjc.1_Missense_Mutation_p.G477C|RXFP1_uc011cjd.1_Missense_Mutation_p.G477C|RXFP1_uc010iql.2_Missense_Mutation_p.G402C|RXFP1_uc011cje.1_Missense_Mutation_p.G585C|RXFP1_uc010iqm.2_Missense_Mutation_p.G525C|RXFP1_uc011cjf.1_Missense_Mutation_p.G427C|RXFP1_uc010iqn.2_Missense_Mutation_p.G503C	p.G558C	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1754	+	all_hematologic(180;0.24)	Renal(120;0.0854)	558			Extracellular (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1672G>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855289	0.91355	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.91038	3.17	0.80722	D	1	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	0.90135	0.4209	10	0.72032	D	0.01	.	19.6199	0.95651	0.0:0.0:1.0:0.0	.	569;585;453;510;525;477;428;558	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	C	477;558;453;510;525;428	ENSP00000423306:G477C;ENSP00000303248:G558C;ENSP00000414885:G453C;ENSP00000345889:G510C;ENSP00000420712:G525C	ENSP00000303248:G558C	G	+	1	0	RXFP1	159787719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.633000	0.89246	0.650000	0.86243	GGC		PASS	0.343	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		41	41	41	41	---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:159791564C>G	ENST00000264433.6	+	14	2967	c.2892C>G	c.(2890-2892)acC>acG	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562																																						uc003iqe.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2890-2892)ACC>ACG		folliculin interacting protein 2							70.0	71.0	71.0					4																	159791564		2116	4241	6357	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159791564C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2892C>G	4.37:g.159791564C>G							p.T964T	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	14	3075	+	all_hematologic(180;0.24)		964					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.2892C>G	CCDS47155.1																																																																																				PASS	0.562	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		21	47	21	47	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183602986	183602986	+	Silent	SNP	G	G	C	rs373230425		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:183602986G>C	ENST00000511685.1	+	11	1977	c.1854G>C	c.(1852-1854)ggG>ggC	p.G618G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.G618G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	618	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.G618G(1)									TAGACCCTGGGTGTTCTAATC	0.403																																						uc003ivd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1852-1854)GGG>GGC		odz, odd Oz/ten-m homolog 3							67.0	62.0	64.0					4																	183602986		1912	4122	6034	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183602986G>C	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.1854G>C	4.37:g.183602986G>C						ODZ3_uc003ive.1_Silent_p.G24G	p.G618G	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)	10	1891	+		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)	618			EGF-like 4.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.1854G>C	CCDS47165.1																																																																																				PASS	0.403	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	23	10	23	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540801	187540801	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:187540801T>G	ENST00000441802.2	-	10	7148	c.6939A>C	c.(6937-6939)gaA>gaC	p.E2313D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2313	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2316D(1)|p.E2313D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCTATTTGGTTCTGAATCAG	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6937-6939)GAA>GAC		FAT tumor suppressor 1 precursor							98.0	101.0	100.0					4																	187540801		1968	4162	6130	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540801T>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6939A>C	4.37:g.187540801T>G	ENSP00000406229:p.Glu2313Asp	HNSCC(5;0.00058)					p.E2313D	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7127	-			2313			Extracellular (Potential).|Cadherin 21.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6939A>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	4.591	0.109778	0.08780	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.58652	0.32	5.23	2.06	0.26882	Cadherin (4);Cadherin-like (1);	0.102586	0.64402	D	0.000003	T	0.45975	0.1369	N	0.26042	0.785	0.26893	N	0.967273	B	0.29862	0.259	B	0.39706	0.307	T	0.44390	-0.9331	10	0.54805	T	0.06	.	6.999	0.24799	0.0:0.1019:0.135:0.7631	.	2313	Q14517	FAT1_HUMAN	D	2313;2315	ENSP00000406229:E2313D	ENSP00000260147:E2315D	E	-	3	2	FAT1	187777795	0.998000	0.40836	0.998000	0.56505	0.434000	0.31775	0.455000	0.21843	0.707000	0.31934	0.533000	0.62120	GAA		PASS	0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		74	73	74	73	---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1323906	1323906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:1323906T>A	ENST00000320895.5	-	12	1533	c.1276A>T	c.(1276-1278)Aag>Tag	p.K426*	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Nonsense_Mutation_p.K390*|CLPTM1L_ENST00000507807.1_Nonsense_Mutation_p.K257*	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	426					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K426*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCCTACCTCTTATATTTGATA	0.537																																						uc003jch.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1276-1278)AAG>TAG		CLPTM1-like							57.0	58.0	58.0					5																	1323906		2202	4300	6502	SO:0001587	stop_gained	81037				apoptosis	integral to membrane		g.chr5:1323906T>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1276A>T	5.37:g.1323906T>A	ENSP00000313854:p.Lys426*					CLPTM1L_uc003jcg.2_Nonsense_Mutation_p.K257*	p.K426*	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	12	1322	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		426			Extracellular (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Nonsense_Mutation	SNP	ENST00000320895.5	37	c.1276A>T	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063876	0.76187	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	.	.	.	4.54	4.54	0.55810	.	0.096296	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.161	0.59544	0.0:0.0:0.0:1.0	.	.	.	.	X	426;257;390	.	ENSP00000313854:K426X	K	-	1	0	CLPTM1L	1376906	1.000000	0.71417	0.949000	0.38748	0.083000	0.17756	7.236000	0.78154	1.806000	0.52798	0.402000	0.26972	AAG		PASS	0.537	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		47	62	47	62	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483468	19483468	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:19483468C>T	ENST00000507958.1	-	14	2814	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	CDH18_ENST00000506372.1_Missense_Mutation_p.R573Q|CDH18_ENST00000382275.1_Silent_p.S608S|CDH18_ENST00000274170.4_Silent_p.S608S|CDH18_ENST00000502796.1_Missense_Mutation_p.R572Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	608	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S608S(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCAAACCAGCCGAGGACAGGA	0.522																																						uc003jgc.2																			4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1822-1824)TCG>TCA		cadherin 18, type 2 preproprotein							68.0	65.0	66.0					5																	19483468		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483468C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1824G>A	5.37:g.19483468C>T						CDH18_uc003jgd.2_Silent_p.S608S|CDH18_uc011cnm.1_Missense_Mutation_p.R572Q	p.S608S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2201	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		608			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1824G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213330	0.39102	.	.	ENSG00000145526	ENST00000506372;ENST00000502796;ENST00000515257	T;T;T	0.59224	0.28;0.29;0.5	5.54	-0.659	0.11424	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07693	-1.0759	7	.	.	.	.	4.2273	0.10587	0.2426:0.2369:0.4343:0.0861	.	572	B4DHG6	.	Q	573;572;439	ENSP00000424931:R573Q;ENSP00000422138:R572Q;ENSP00000427383:R439Q	.	R	-	2	0	CDH18	19519225	0.000000	0.05858	0.990000	0.47175	0.994000	0.84299	-2.303000	0.01135	-0.026000	0.13895	0.655000	0.94253	CGG		PASS	0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		29	52	29	52	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36049404	36049404	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:36049404C>A	ENST00000282507.3	-	4	531	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.V110F|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	144					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V144F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGTTTCAACTATCACCATG	0.388																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(430-432)GTT>TTT		UDP glycosyltransferase 3 family, polypeptide A2							78.0	74.0	75.0					5																	36049404		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049404C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.430G>T	5.37:g.36049404C>A	ENSP00000282507:p.Val144Phe					UGT3A2_uc011cos.1_Missense_Mutation_p.V110F|UGT3A2_uc011cot.1_Intron	p.V144F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	523	-	all_lung(31;0.000179)		144			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.430G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280002	0.23392	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.62639	0.01;0.01	3.1	-3.42	0.04825	.	0.773596	0.11285	N	0.579923	T	0.47893	0.1470	L	0.46819	1.47	0.09310	N	1	B;B	0.26400	0.005;0.148	B;B	0.29942	0.012;0.109	T	0.45338	-0.9268	10	0.72032	D	0.01	.	2.7385	0.05247	0.1349:0.1865:0.1337:0.545	.	110;144	E9PFK7;Q3SY77	.;UD3A2_HUMAN	F	144;110	ENSP00000282507:V144F;ENSP00000427404:V110F	ENSP00000282507:V144F	V	-	1	0	UGT3A2	36085161	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-2.495000	0.00971	-0.978000	0.03533	-0.140000	0.14226	GTT		PASS	0.388	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		43	94	43	94	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123980279	123980279	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:123980279C>G	ENST00000306315.5	-	5	4216	c.3781G>C	c.(3781-3783)Gat>Cat	p.D1261H	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.D834H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1261							metal ion binding (GO:0046872)	p.D1261H(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCTCTCTATCAAGTTCTTCT	0.373																																						uc003ktq.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(1)	6						c.(3781-3783)GAT>CAT		zinc finger protein 608							74.0	74.0	74.0					5																	123980279		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980279C>G	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3781G>C	5.37:g.123980279C>G	ENSP00000307746:p.Asp1261His					ZNF608_uc003ktr.1_RNA|ZNF608_uc003ktp.1_5'UTR	p.D1261H	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	3904	-		all_cancers(142;0.186)|Prostate(80;0.081)	1261					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3781G>C	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.561011	0.65538	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.47177	0.85;0.85	5.28	5.28	0.74379	.	0.412605	0.26601	N	0.023461	T	0.56124	0.1964	L	0.44542	1.39	0.49483	D	0.999798	P	0.45176	0.852	P	0.53062	0.717	T	0.48906	-0.8993	9	.	.	.	-13.0276	19.2836	0.94061	0.0:1.0:0.0:0.0	.	1261	Q9ULD9	ZN608_HUMAN	H	834;1261	ENSP00000427657:D834H;ENSP00000307746:D1261H	.	D	-	1	0	ZNF608	124008178	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	5.638000	0.67861	2.617000	0.88574	0.643000	0.83706	GAT		PASS	0.373	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		70	64	70	64	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128957974	128957974	+	Missense_Mutation	SNP	C	C	A	rs375017613		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:128957974C>A	ENST00000274487.4	+	10	1830	c.1685C>A	c.(1684-1686)aCa>aAa	p.T562K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	562	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T562K(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGGGATGACATACACTGCT	0.478																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1684-1686)ACA>AAA		ADAM metallopeptidase with thrombospondin type 1							174.0	146.0	156.0					5																	128957974		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957974C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1685C>A	5.37:g.128957974C>A	ENSP00000274487:p.Thr562Lys					ADAMTS19_uc010jdh.1_RNA	p.T562K	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1685	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	562			Disintegrin.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1685C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291347	0.40494	.	.	ENSG00000145808	ENST00000274487	T	0.61980	0.06	4.42	2.66	0.31614	Metallopeptidase, catalytic domain (1);	0.355674	0.26975	N	0.021541	T	0.45617	0.1351	L	0.39020	1.185	0.36639	D	0.876736	P	0.36683	0.565	B	0.30105	0.111	T	0.49551	-0.8928	9	.	.	.	.	11.0913	0.48117	0.0:0.8474:0.0:0.1526	.	562	Q8TE59	ATS19_HUMAN	K	562	ENSP00000274487:T562K	.	T	+	2	0	ADAMTS19	128985873	0.296000	0.24398	0.874000	0.34290	0.920000	0.55202	0.909000	0.28558	0.813000	0.34350	0.585000	0.79938	ACA		PASS	0.478	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		49	32	49	32	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145493753	145493753	+	Silent	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:145493753C>A	ENST00000394434.2	-	32	3613	c.3447G>T	c.(3445-3447)gtG>gtT	p.V1149V	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000274562.9_Silent_p.V1122V|LARS_ENST00000545646.1_Silent_p.V1103V|LARS_ENST00000510191.1_Silent_p.V1095V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1149					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.V1149V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCATGAGGTCCACATTGAAAA	0.448																																						uc003lnx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3445-3447)GTG>GTT		leucyl-tRNA synthetase	L-Leucine(DB00149)						143.0	138.0	140.0					5																	145493753		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145493753C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3447G>T	5.37:g.145493753C>A						LARS_uc003lnw.1_Silent_p.V307V|LARS_uc011dbq.1_Silent_p.V1103V|LARS_uc011dbr.1_Silent_p.V1095V|LARS_uc011dbs.1_Silent_p.V1122V	p.V1149V	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		32	3685	-			1149					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.3447G>T	CCDS34265.1																																																																																				PASS	0.448	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		100	96	100	96	---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219325	180219325	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr5:180219325G>A	ENST00000446023.2	-	3	1397	c.647C>T	c.(646-648)cCg>cTg	p.P216L	MGAT1_ENST00000393340.3_Missense_Mutation_p.P216L|MGAT1_ENST00000427865.2_Missense_Mutation_p.P216L|MGAT1_ENST00000333055.3_Missense_Mutation_p.P216L|MGAT1_ENST00000307826.4_Missense_Mutation_p.P216L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	216					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.P216L(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGAAGTCCGGGGCCACCTC	0.652																																						uc003mmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)CCG>CTG		mannosyl (alpha-1,3-)-glycoprotein							29.0	33.0	32.0					5																	180219325		2193	4293	6486	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219325G>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.647C>T	5.37:g.180219325G>A	ENSP00000404718:p.Pro216Leu					MGAT1_uc010jlf.2_Missense_Mutation_p.P216L|MGAT1_uc010jlg.2_Missense_Mutation_p.P216L|MGAT1_uc003mmh.3_Missense_Mutation_p.P216L|MGAT1_uc010jlh.2_Missense_Mutation_p.P216L|MGAT1_uc003mmi.3_Missense_Mutation_p.P216L	p.P216L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1142	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	216			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.647C>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237966	0.58886	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95483	0.8562	10	0.72032	D	0.01	-14.0306	17.3815	0.87406	0.0:0.0:1.0:0.0	.	216	P26572	MGAT1_HUMAN	L	216;216;216;216;73;216	ENSP00000332073:P216L;ENSP00000311888:P216L;ENSP00000404718:P216L;ENSP00000377010:P216L;ENSP00000402838:P216L	ENSP00000311888:P216L	P	-	2	0	MGAT1	180151931	1.000000	0.71417	0.388000	0.26195	0.056000	0.15407	8.955000	0.93058	2.777000	0.95525	0.655000	0.94253	CCG		PASS	0.652	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		29	29	29	29	---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10875151	10875151	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:10875151C>A	ENST00000379491.4	-	5	745	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	200					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.D200Y(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)				CCACTGCTGTCTTGATTTTCT	0.423																																						uc003mzn.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(598-600)GAC>TAC		glial cells missing homolog 2							90.0	86.0	87.0					6																	10875151		2203	4300	6503	SO:0001583	missense	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.chr6:10875151C>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.598G>T	6.37:g.10875151C>A	ENSP00000368805:p.Asp200Tyr					SYCP2L_uc011dim.1_Intron	p.D200Y	NM_004752	NP_004743	O75603	GCM2_HUMAN			5	670	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	200					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.598G>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418544	0.42918	.	.	ENSG00000124827	ENST00000379491	T	0.70164	-0.46	5.72	4.86	0.63082	.	0.311695	0.38381	N	0.001704	T	0.70762	0.3261	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.76233	-0.3034	10	0.87932	D	0	-12.2478	14.7443	0.69480	0.0:0.9307:0.0:0.0693	.	200	O75603	GCM2_HUMAN	Y	200	ENSP00000368805:D200Y	ENSP00000368805:D200Y	D	-	1	0	GCM2	10983137	1.000000	0.71417	0.117000	0.21633	0.340000	0.28889	2.416000	0.44644	1.430000	0.47334	0.591000	0.81541	GAC		PASS	0.423	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			27	124	27	124	---	---	---	---
ZNF311	282890	broad.mit.edu	37	6	28966578	28966578	+	Silent	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:28966578C>G	ENST00000377179.3	-	6	860	c.348G>C	c.(346-348)ctG>ctC	p.L116L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	116	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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L116L(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CTTCTCGCTCCAGATGAGAGA	0.428																																						uc003nlu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)CTG>CTC		zinc finger protein 311							91.0	90.0	90.0					6																	28966578		1509	2709	4218	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28966578C>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.348G>C	6.37:g.28966578C>G						ZNF311_uc011dlk.1_Silent_p.L24L|ZNF311_uc003nlv.2_Silent_p.L24L	p.L116L	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			6	861	-			116					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.348G>C	CCDS34357.1																																																																																				PASS	0.428	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		69	188	69	188	---	---	---	---
ATP6V1G2	534	broad.mit.edu	37	6	31513318	31513318	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:31513318T>G	ENST00000303892.5	-	3	508	c.224A>C	c.(223-225)cAg>cCg	p.Q75P	DDX39B-AS1_ENST00000416684.1_RNA|ATP6V1G2_ENST00000376151.4_Splice_Site|NFKBIL1_ENST00000376148.4_5'Flank|DDX39B-AS1_ENST00000420520.1_RNA|NFKBIL1_ENST00000376145.4_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.Q34P	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	75					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.Q75P(1)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CCTTGTAGCCTGCTCCACCTC	0.627																																						uc003nua.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CAG>CCG		ATPase, H+ transporting, lysosomal, V1 subunit							42.0	40.0	41.0					6																	31513318		2203	4300	6503	SO:0001583	missense	534				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding	g.chr6:31513318T>G	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.224A>C	6.37:g.31513318T>G	ENSP00000302194:p.Gln75Pro					BAT1_uc003ntv.2_Intron|ATP6V1G2_uc003ntz.2_Missense_Mutation_p.Q34P|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	p.Q75P	NM_130463	NP_569730	O95670	VATG2_HUMAN			3	515	-			75					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Missense_Mutation	SNP	ENST00000303892.5	37	c.224A>C	CCDS4698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.33|17.33	3.362596|3.362596	0.61403|0.61403	.|.	.|.	ENSG00000213760|ENSG00000213760	ENST00000376151|ENST00000303892;ENST00000483251;ENST00000415099	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.192160	.|0.32987	.|U	.|0.005413	.|T	.|0.38374	.|0.1038	M|M	0.67397|0.67397	2.05|2.05	0.25877|0.25877	N|N	0.983631|0.983631	.|B	.|0.33857	.|0.429	.|B	.|0.43623	.|0.425	.|T	.|0.36187	.|-0.9758	.|10	.|0.59425	.|D	.|0.04	.|-10.6492	10.3275|10.3275	0.43803|0.43803	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|75	.|O95670	.|VATG2_HUMAN	.|P	-1|75;34;115	.|ENSP00000302194:Q75P;ENSP00000419698:Q34P;ENSP00000390148:Q115P	.|ENSP00000302194:Q75P	.|Q	-|-	.|2	.|0	ATP6V1G2|ATP6V1G2	31621297|31621297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.611000|2.611000	0.46334|0.46334	1.932000|1.932000	0.55993|0.55993	0.533000|0.533000	0.62120|0.62120	.|CAG		PASS	0.627	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		4	90	4	90	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31691947	31691947	+	5'Flank	SNP	G	G	A	rs140027534		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:31691947G>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Silent_p.P146P|C6orf25_ENST00000375809.3_Silent_p.P146P|C6orf25_ENST00000375805.2_Intron|LY6G6C_ENST00000495859.1_5'Flank|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Silent_p.P146P	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P146P(2)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TCCTGATCCCGCTGCTGGGCG	0.667																																						uc011doc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(436-438)CCG>CCA		G6B protein isoform G6b-B precursor		G	,,,,,	0,3018		0,0,1509	39.0	31.0	34.0		438,438,,,,438	-3.5	0.0	6	dbSNP_134	34	2,5416		0,2,2707	no	coding-synonymous,coding-synonymous,intron,intron,intron,coding-synonymous	C6orf25	NM_025260.3,NM_138272.2,NM_138273.2,NM_138274.2,NM_138275.2,NM_138277.2	,,,,,	0,2,4216	AA,AG,GG		0.0369,0.0,0.0237	,,,,,	146/238,146/242,,,,146/223	31691947	2,8434	1509	2709	4218	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691947G>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691947G>A	Exception_encountered					LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Silent_p.P146P|C6orf25_uc011dod.1_Intron|C6orf25_uc011doe.1_Intron|C6orf25_uc003nwo.2_Intron|C6orf25_uc003nwn.2_Silent_p.P146P	p.P146P	NM_138272	NP_612116	O95866	G6B_HUMAN			3	438	+			146			Helical; (Potential).		Q5SRS8|Q8IY94	Silent	SNP	ENST00000375819.2	37	c.438G>A	CCDS4714.1																																																																																				PASS	0.667	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			19	41	19	41	---	---	---	---
EGFL8	80864	broad.mit.edu	37	6	32135181	32135181	+	Missense_Mutation	SNP	G	G	C	rs138835391	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:32135181G>C	ENST00000395512.1	+	7	761	c.656G>C	c.(655-657)cGa>cCa	p.R219P	EGFL8_ENST00000333845.6_Missense_Mutation_p.R219P|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	219						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R219P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CACGAGCTGCGAGGGCGCCTG	0.607																																						uc003oab.1																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CGA>CCA		NG3 protein precursor							46.0	50.0	48.0					6																	32135181		1508	2707	4215	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135181G>C	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.656G>C	6.37:g.32135181G>C	ENSP00000378888:p.Arg219Pro					PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.R219P	p.R219P	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			7	714	+			219			Potential.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.656G>C	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517829	0.64634	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.90133	-2.62;-2.62;1.79	5.27	3.22	0.36961	.	.	.	.	.	D	0.90314	0.6970	M	0.78801	2.425	0.35373	D	0.789217	D	0.67145	0.996	P	0.58454	0.839	D	0.89129	0.3508	9	0.72032	D	0.01	-6.4548	6.9516	0.24548	0.2501:0.0:0.7499:0.0	.	219	Q99944	EGFL8_HUMAN	P	219;219;199	ENSP00000333380:R219P;ENSP00000378888:R219P;ENSP00000401694:R199P	ENSP00000333380:R219P	R	+	2	0	EGFL8	32243159	0.076000	0.21285	0.994000	0.49952	0.646000	0.38490	0.518000	0.22847	0.422000	0.26005	0.491000	0.48974	CGA		PASS	0.607	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		13	59	13	59	---	---	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652134	36652134	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:36652134C>T	ENST00000405375.1	+	2	491	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R120W|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R86W|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R86W|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	86					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCGGCGAGGCCGGGATGAGTT	0.657																																						uc003omm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(256-258)CGG>TGG		cyclin-dependent kinase inhibitor 1A							26.0	26.0	26.0					6																	36652134		2203	4300	6503	SO:0001583	missense	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652134C>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.256C>T	6.37:g.36652134C>T	ENSP00000384849:p.Arg86Trp					CDKN1A_uc011dtq.1_Missense_Mutation_p.R120W|CDKN1A_uc003oml.2_Missense_Mutation_p.R86W|CDKN1A_uc003omn.2_Missense_Mutation_p.R86W	p.R86W	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	378	+			86					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.256C>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	5.771	0.326696	0.10900	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.16	-1.7	0.08159	.	1.118360	0.06876	N	0.801660	T	0.24736	0.0600	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22080	0.064;0.035;0.02	B;B;B	0.12837	0.008;0.005;0.005	T	0.21655	-1.0239	10	0.72032	D	0.01	-1.0186	1.66	0.02789	0.42:0.2923:0.1259:0.1618	.	120;86;86	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	W	120;86;86;86	ENSP00000409259:R120W;ENSP00000244741:R86W;ENSP00000384849:R86W;ENSP00000362815:R86W	ENSP00000244741:R86W	R	+	1	2	CDKN1A	36760112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.407000	0.07178	-0.143000	0.11334	-0.296000	0.09543	CGG		PASS	0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		10	33	10	33	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38891855	38891855	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:38891855C>A	ENST00000359357.3	+	71	10482	c.10228C>A	c.(10228-10230)Caa>Aaa	p.Q3410K	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q3374K|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q3627K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3410					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.Q3410K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTTAAAGATCAATGGGAAAT	0.388																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10228-10230)CAA>AAA		dynein, axonemal, heavy polypeptide 8							154.0	156.0	155.0					6																	38891855		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38891855C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10228C>A	6.37:g.38891855C>A	ENSP00000352312:p.Gln3410Lys					uc003oof.1_Intron	p.Q3410K	NM_001371	NP_001362					71	10828	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10228C>A		.	.	.	.	.	.	.	.	.	.	C	2.076	-0.411788	0.04799	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	6.06	6.06	0.98353	Dynein heavy chain, coiled coil stalk (1);	0.414272	0.23768	N	0.044746	T	0.31702	0.0805	N	0.12831	0.26	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.06935	-1.0799	10	0.07813	T	0.8	.	9.4428	0.38679	0.0:0.8829:0.0:0.1171	.	3410	Q96JB1	DYH8_HUMAN	K	3615;3615;3410;3374	ENSP00000333363:Q3615K;ENSP00000352312:Q3410K;ENSP00000402294:Q3374K	ENSP00000333363:Q3615K	Q	+	1	0	DNAH8	38999833	0.294000	0.24380	0.071000	0.20095	0.790000	0.44656	1.746000	0.38288	2.882000	0.98803	0.655000	0.94253	CAA		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		80	61	80	61	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582418	49582418	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:49582418G>T	ENST00000371175.4	-	5	815	c.789C>A	c.(787-789)caC>caA	p.H263Q	RHAG_ENST00000229810.7_Missense_Mutation_p.H263Q	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	263					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.H263Q(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCTTGCCTCGGTGCTCCACTA	0.498																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(787-789)CAC>CAA		Rh-associated glycoprotein							191.0	161.0	171.0					6																	49582418		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582418G>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.789C>A	6.37:g.49582418G>T	ENSP00000360217:p.His263Gln					RHAG_uc010jzl.2_Missense_Mutation_p.H263Q|RHAG_uc010jzm.2_Missense_Mutation_p.H263Q	p.H263Q	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	851	-	Lung NSC(77;0.0255)		263			Cytoplasmic (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.789C>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234773	0.22626	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.22539	1.95;1.95	5.35	-7.58	0.01313	Ammonium transporter AmtB-like (3);	0.944858	0.09116	N	0.846372	T	0.03959	0.0111	L	0.46741	1.465	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.13407	0.009;0.009;0.009	T	0.41592	-0.9500	10	0.48119	T	0.1	2.0653	0.1796	0.00122	0.2815:0.1635:0.2284:0.3266	.	263;263;263	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	Q	263	ENSP00000360217:H263Q;ENSP00000229810:H263Q	ENSP00000229810:H263Q	H	-	3	2	RHAG	49690377	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.139000	0.03213	-1.095000	0.03050	-0.345000	0.07892	CAC		PASS	0.498	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			117	161	117	161	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55128622	55128622	+	Splice_Site	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:55128622T>A	ENST00000370862.3	+	4	1098		c.e4+2			NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2						circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTCGACAGGTATATAGTTTC	0.363																																						uc003pcl.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.e4+2		orexin receptor 2							105.0	86.0	92.0					6																	55128622		2203	4300	6503	SO:0001630	splice_region_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128622T>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.762+2T>A	6.37:g.55128622T>A						HCRTR2_uc010jzv.2_Splice_Site|HCRTR2_uc010jzw.1_Missense_Mutation_p.V190E	p.Q254_splice	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1077	+	Lung NSC(77;0.107)|Renal(3;0.122)							Q5VTM0	Splice_Site	SNP	ENST00000370862.3	37	c.762_splice	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817365	0.70912	.	.	ENSG00000137252	ENST00000370862	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HCRTR2	55236581	1.000000	0.71417	0.998000	0.56505	0.625000	0.37756	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	.		PASS	0.363	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		Intron	23	35	23	35	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80223280	80223280	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:80223280C>G	ENST00000392959.1	-	4	980	c.369G>C	c.(367-369)caG>caC	p.Q123H	LCA5_ENST00000369846.4_Missense_Mutation_p.Q123H|LCA5_ENST00000467898.3_Missense_Mutation_p.Q123H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	123					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.Q123H(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTAACTTGACCTGGAGTTCAG	0.388																																						uc003pix.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(367-369)CAG>CAC		Leber congenital amaurosis 5							80.0	84.0	82.0					6																	80223280		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223280C>G		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.369G>C	6.37:g.80223280C>G	ENSP00000376686:p.Gln123His					LCA5_uc003piy.2_Missense_Mutation_p.Q123H|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.Q123H	p.Q123H	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	3	804	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	123			Potential.		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.369G>C	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566770	0.28003	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.77750	-1.12;-1.12	6.07	4.24	0.50183	.	0.180121	0.50627	N	0.000116	T	0.49729	0.1574	L	0.31371	0.925	0.38502	D	0.948264	B;B	0.20671	0.016;0.047	B;B	0.24541	0.033;0.054	T	0.43845	-0.9366	10	0.30078	T	0.28	-2.2078	10.4735	0.44650	0.2446:0.5183:0.237:0.0	.	123;123	B4DRL2;Q86VQ0	.;LCA5_HUMAN	H	123	ENSP00000358861:Q123H;ENSP00000376686:Q123H	ENSP00000358861:Q123H	Q	-	3	2	LCA5	80279999	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	0.667000	0.25112	0.825000	0.34637	0.655000	0.94253	CAG		PASS	0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		97	115	97	115	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108492769	108492769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:108492769C>T	ENST00000368986.4	+	2	841	c.133C>T	c.(133-135)Cga>Tga	p.R45*	NR2E1_ENST00000368983.3_Nonsense_Mutation_p.R82*	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	45					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R45*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ACGGAGCATCCGAAGGAATAG	0.552																																						uc003psg.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(133-135)CGA>TGA		nuclear receptor subfamily 2, group E, member 1							112.0	124.0	120.0					6																	108492769		2203	4300	6503	SO:0001587	stop_gained	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492769C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.133C>T	6.37:g.108492769C>T	ENSP00000357982:p.Arg45*						p.R45*	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	888	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	45			Nuclear receptor.		Q6ZMP8	Nonsense_Mutation	SNP	ENST00000368986.4	37	c.133C>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	C	42	9.760669	0.99257	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	.	.	.	5.53	2.41	0.29592	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1735	0.25732	0.5451:0.3656:0.0:0.0893	.	.	.	.	X	45;82	.	ENSP00000357979:R82X	R	+	1	2	NR2E1	108599462	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	1.205000	0.32308	0.677000	0.31305	-0.136000	0.14681	CGA		PASS	0.552	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			128	124	128	124	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127796683	127796683	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:127796683C>G	ENST00000525778.1	-	6	3233	c.2488G>C	c.(2488-2490)Gac>Cac	p.D830H	SOGA3_ENST00000556132.1_Missense_Mutation_p.D830H|SOGA3_ENST00000465909.2_Missense_Mutation_p.D830H|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.D830H|SOGA3_ENST00000368268.2_Missense_Mutation_p.D830H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	830					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D830H(1)									ATGAGCCGGTCGATGGTCTTG	0.667																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2488-2490)GAC>CAC		hypothetical protein LOC387104 precursor							75.0	86.0	82.0					6																	127796683		2162	4261	6423	SO:0001583	missense	387104					integral to membrane		g.chr6:127796683C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2488G>C	6.37:g.127796683C>G	ENSP00000434570:p.Asp830His					C6orf174_uc003qbc.2_5'UTR	p.D830H	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3353	-			830			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.2488G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656934	0.88154	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63721	-0.6573	10	0.87932	D	0	-26.516	19.854	0.96750	0.0:1.0:0.0:0.0	.	830	Q5TF21	CF174_HUMAN	H	830	ENSP00000451768:D830H;ENSP00000357251:D830H;ENSP00000434570:D830H;ENSP00000435559:D830H	ENSP00000435559:D830H	D	-	1	0	C6orf174	127838376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.699000	0.92147	0.462000	0.41574	GAC		PASS	0.667	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		84	72	84	72	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152560753	152560753	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:152560753T>C	ENST00000367255.5	-	108	20583	c.19982A>G	c.(19981-19983)cAg>cGg	p.Q6661R	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6590R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6661R|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1185R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6273R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6590R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6661					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q6661R(2)|p.Q6590R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTATGGAACTGGGTTTCCTT	0.458										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19981-19983)CAG>CGG		spectrin repeat containing, nuclear envelope 1							125.0	107.0	113.0					6																	152560753		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152560753T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19982A>G	6.37:g.152560753T>C	ENSP00000356224:p.Gln6661Arg	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Q1185R|SYNE1_uc003qos.3_Missense_Mutation_p.Q1185R|SYNE1_uc003qot.3_Missense_Mutation_p.Q6590R|SYNE1_uc003qou.3_Missense_Mutation_p.Q6661R	p.Q6661R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	108	20584	-		Ovarian(120;0.0955)	6661			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19982A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149881	0.78001	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.7	5.7	0.88788	.	0.103551	0.42682	D	0.000666	T	0.47322	0.1439	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.38714	-0.9648	10	0.36615	T	0.2	.	15.9662	0.79974	0.0:0.0:0.0:1.0	.	6661;6661;6590	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6661;6590;6661;6590;6273;1185	ENSP00000356224:Q6661R;ENSP00000396024:Q6590R;ENSP00000265368:Q6661R;ENSP00000390975:Q6590R;ENSP00000341887:Q6273R;ENSP00000349276:Q1185R	ENSP00000265368:Q6661R	Q	-	2	0	SYNE1	152602446	1.000000	0.71417	0.189000	0.23252	0.954000	0.61252	4.885000	0.63142	2.170000	0.68504	0.533000	0.62120	CAG		PASS	0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		55	63	55	63	---	---	---	---
ZDHHC14	79683	broad.mit.edu	37	6	158014086	158014086	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:158014086A>G	ENST00000359775.5	+	3	1362	c.473A>G	c.(472-474)aAt>aGt	p.N158S	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.N158S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	158					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.N158S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCATCATCAATGGCCAGACC	0.522																																						uc003qqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(472-474)AAT>AGT		zinc finger, DHHC-type containing 14 isoform 1							97.0	93.0	95.0					6																	158014086		2203	4297	6500	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158014086A>G	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.473A>G	6.37:g.158014086A>G	ENSP00000352821:p.Asn158Ser					ZDHHC14_uc003qqs.2_Missense_Mutation_p.N158S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.N53S	p.N158S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	3	970	+		Breast(66;0.00586)|Ovarian(120;0.123)	158					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.473A>G	CCDS5252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.9|28.9	4.960041|4.960041	0.92791|0.92791	.|.	.|.	ENSG00000175048|ENSG00000175048	ENST00000340347|ENST00000359775;ENST00000414563;ENST00000538483	.|T;T	.|0.23147	.|1.92;1.92	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41236|0.41236	0.1150|0.1150	M|M	0.73753|0.73753	2.245|2.245	0.54753|0.54753	D|D	0.999985|0.999985	.|D;P;P	.|0.64830	.|0.994;0.877;0.746	.|D;P;P	.|0.70935	.|0.971;0.74;0.561	T|T	0.42120|0.42120	-0.9470|-0.9470	5|10	.|0.62326	.|D	.|0.03	-10.5134|-10.5134	15.9869|15.9869	0.80160|0.80160	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|162;158;158	.|A4FVA9;Q8IZN3;Q8IZN3-2	.|.;ZDH14_HUMAN;.	V|S	16|158;158;162	.|ENSP00000352821:N158S;ENSP00000410713:N158S	.|ENSP00000352821:N158S	M|N	+|+	1|2	0|0	ZDHHC14|ZDHHC14	157934074|157934074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.841000|8.841000	0.92131|0.92131	0.449000|0.449000	0.26747|0.26747	0.533000|0.533000	0.62120|0.62120	ATG|AAT		PASS	0.522	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		34	97	34	97	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162475142	162475142	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr6:162475142T>G	ENST00000366898.1	-	5	701	c.599A>C	c.(598-600)cAc>cCc	p.H200P	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Missense_Mutation_p.H9P|PARK2_ENST00000366892.1_Missense_Mutation_p.H200P|PARK2_ENST00000366894.1_Missense_Mutation_p.H9P|PARK2_ENST00000366897.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	200					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.H200P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCCAGGGCAGTGTGGGGATTG	0.413																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(598-600)CAC>CCC		parkin isoform 1							145.0	127.0	133.0					6																	162475142		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162475142T>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.599A>C	6.37:g.162475142T>G	ENSP00000355865:p.His200Pro					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.H9P|PARK2_uc003qtw.3_Missense_Mutation_p.H9P|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.H200P	p.H200P	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	5	733	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	200					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.599A>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	T	3.759	-0.050013	0.07407	.	.	ENSG00000185345	ENST00000366898;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D	0.91295	-2.77;-2.49;-2.49;-2.82	5.39	-2.8	0.05823	.	0.889984	0.09841	N	0.748859	T	0.62768	0.2455	N	0.08118	0	0.09310	N	1	B;B;B	0.24132	0.098;0.038;0.059	B;B;B	0.30646	0.118;0.034;0.055	T	0.59161	-0.7506	10	0.37606	T	0.19	.	6.2332	0.20747	0.0:0.4353:0.1567:0.408	.	200;200;9	O60260-5;O60260;Q8NI42	.;PRKN2_HUMAN;.	P	200;9;9;9;200;121	ENSP00000355865:H200P;ENSP00000355860:H9P;ENSP00000343589:H9P;ENSP00000355858:H200P	ENSP00000343589:H9P	H	-	2	0	PARK2	162395132	0.010000	0.17322	0.063000	0.19743	0.042000	0.13812	-0.180000	0.09754	-0.497000	0.06641	0.533000	0.62120	CAC		PASS	0.413	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			34	88	34	88	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1539535	1539535	+	Silent	SNP	G	G	A	rs552027973		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:1539535G>A	ENST00000404767.3	-	5	754	c.669C>T	c.(667-669)ccC>ccT	p.P223P	INTS1_ENST00000389470.4_Silent_p.P351P|INTS1_ENST00000493531.1_5'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	223					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.P351P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAAAGATCTCGGGCCAGTTCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17870	0.0		0.001	False		,,,				2504	0.0					uc003skn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(667-669)CCC>CCT		integrator complex subunit 1							48.0	54.0	52.0					7																	1539535		2109	4214	6323	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1539535G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.669C>T	7.37:g.1539535G>A						INTS1_uc003skq.2_Silent_p.P223P	p.P223P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	5	770	-		Ovarian(82;0.0253)	223					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.669C>T	CCDS47526.1																																																																																				PASS	0.612	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			16	38	16	38	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5353167	5353167	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:5353167C>T	ENST00000430969.1	-	27	7703	c.7355G>A	c.(7354-7356)cGg>cAg	p.R2452Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2452Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2452							chromatin binding (GO:0003682)	p.R2452Q(2)|p.R284Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCCGGCCTCCGAGGGCCCTT	0.677																																						uc003soi.3																			3	Substitution - Missense(3)		lung(3)		0						c.(7354-7356)CGG>CAG		trinucleotide repeat containing 18							15.0	14.0	15.0					7																	5353167		1566	3580	5146	SO:0001583	missense	84629						DNA binding	g.chr7:5353167C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7355G>A	7.37:g.5353167C>T	ENSP00000395538:p.Arg2452Gln						p.R2452Q	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7704	-		Ovarian(82;0.142)	2452					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7355G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582636	0.28180	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.15952	2.38;2.41	4.73	3.84	0.44239	.	0.000000	0.32147	N	0.006509	T	0.16128	0.0388	M	0.67397	2.05	0.09310	N	1	B	0.26547	0.152	B	0.19666	0.026	T	0.12656	-1.0539	10	0.18710	T	0.47	.	8.8155	0.34993	0.0:0.83:0.0:0.17	.	2452	O15417	TNC18_HUMAN	Q	2452	ENSP00000382452:R2452Q;ENSP00000395538:R2452Q	ENSP00000382452:R2452Q	R	-	2	0	TNRC18	5319693	0.247000	0.23920	0.399000	0.26333	0.323000	0.28346	2.198000	0.42705	2.172000	0.68678	0.561000	0.74099	CGG		PASS	0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	24	10	24	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676275	11676275	+	Silent	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:11676275A>T	ENST00000423059.4	-	2	755	c.504T>A	c.(502-504)ccT>ccA	p.P168P	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	168					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P168P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATCCTCCGCAGGAATGTCTT	0.473										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(502-504)CCT>CCA		thrombospondin, type I, domain containing 7A							100.0	97.0	98.0					7																	11676275		2010	4201	6211	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676275A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.504T>A	7.37:g.11676275A>T		HNSCC(18;0.044)					p.P168P	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	756	-			168			Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.504T>A	CCDS47543.1																																																																																				PASS	0.473	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		24	67	24	67	---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20418789	20418789	+	Silent	SNP	C	C	T	rs200718910		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:20418789C>T	ENST00000222573.4	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ITGB8_ENST00000537992.1_Silent_p.S33S|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338													c|||	1	0.000199681	0.0	0.0	5008	,	,		12176	0.0		0.001	False		,,,				2504	0.0					uc003suu.2																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	skin(3)	3						c.(502-504)TCC>TCT		integrin, beta 8 precursor		T		0,4406		0,0,2203	81.0	87.0	85.0		504	-11.6	0.1	7		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB8	NM_002214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/770	20418789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418789C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.504C>T	7.37:g.20418789C>T						ITGB8_uc011jyh.1_Silent_p.S33S|ITGB8_uc003sut.2_Silent_p.S168S	p.S168S	NM_002214	NP_002205	P26012	ITB8_HUMAN			4	1209	+			168			VWFA.|Extracellular (Potential).		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.504C>T	CCDS5370.1																																																																																				PASS	0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		22	117	22	117	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27284804	27284804	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:27284804G>A	ENST00000496902.4	+	2	1051	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.A7T|EVX1_ENST00000222761.3_Silent_p.P170P|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	189					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A189T(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TTACCGCACCGCCTTCACCCG	0.657																																						uc003szd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(565-567)GCC>ACC		even-skipped homeobox 1							41.0	46.0	44.0					7																	27284804		2203	4300	6503	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27284804G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.565G>A	7.37:g.27284804G>A	ENSP00000419266:p.Ala189Thr					EVX1_uc011jzn.1_Missense_Mutation_p.A7T|EVX1_uc010kuy.1_Silent_p.P170P	p.A189T	NM_001989	NP_001980	P49640	EVX1_HUMAN			2	1051	+			189			Homeobox.		A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.565G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892073	0.97074	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.95885	-3.84;-3.84	5.41	5.41	0.78517	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.96788	0.9580	10	0.87932	D	0	-19.7711	19.1941	0.93679	0.0:0.0:1.0:0.0	.	189	P49640	EVX1_HUMAN	T	189;7	ENSP00000419266:A189T;ENSP00000446458:A7T	ENSP00000419266:A189T	A	+	1	0	EVX1	27251329	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.841000	0.99482	2.542000	0.85734	0.462000	0.41574	GCC		PASS	0.657	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			40	87	40	87	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29152366	29152366	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:29152366T>C	ENST00000409850.1	-	7	888	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CPVL_ENST00000396276.3_Missense_Mutation_p.N81S|CPVL_ENST00000265394.5_Missense_Mutation_p.N81S|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	81						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.N81S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GTAAGTCTTATTCACGGTGAG	0.483																																						uc003szv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(241-243)AAT>AGT		serine carboxypeptidase vitellogenic-like							108.0	98.0	101.0					7																	29152366		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29152366T>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.242A>G	7.37:g.29152366T>C	ENSP00000387164:p.Asn81Ser					CPVL_uc003szw.2_Missense_Mutation_p.N81S|CPVL_uc003szx.2_Missense_Mutation_p.N81S	p.N81S	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			3	361	-			81					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.242A>G	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199431	0.79015	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000448959;ENST00000447426	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.55283	-0.8165	10	0.56958	D	0.05	-6.1067	15.1839	0.72982	0.0:0.0:0.0:1.0	.	81	Q9H3G5	CPVL_HUMAN	S	81;81;81;11;11	ENSP00000265394:N81S;ENSP00000379572:N81S;ENSP00000387164:N81S;ENSP00000409036:N11S;ENSP00000395690:N11S	ENSP00000265394:N81S	N	-	2	0	CPVL	29118891	1.000000	0.71417	0.929000	0.37066	0.546000	0.35178	5.267000	0.65530	2.227000	0.72691	0.459000	0.35465	AAT		PASS	0.483	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		10	106	10	106	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57194316	57194316	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:57194316C>A	ENST00000331162.4	-	3	419	c.149G>T	c.(148-150)aGa>aTa	p.R50I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	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)|metal ion binding (GO:0046872)	p.R50I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GACCAGGTTTCTGTAGTTCTC	0.378																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(148-150)AGA>ATA		zinc finger protein 479							91.0	93.0	93.0					7																	57194316		2199	4299	6498	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194316C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.149G>T	7.37:g.57194316C>A	ENSP00000333776:p.Arg50Ile						p.R50I	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	420	-			50			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.149G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	11.55	1.673251	0.29693	.	.	ENSG00000185177	ENST00000331162	T	0.02121	4.44	1.25	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.11879	0.0289	M	0.89904	3.07	0.21020	N	0.9998	D	0.76494	0.999	D	0.87578	0.998	T	0.09552	-1.0669	9	0.87932	D	0	.	3.6702	0.08270	0.0:0.7285:0.0:0.2715	.	50	Q96JC4	ZN479_HUMAN	I	50	ENSP00000333776:R50I	ENSP00000333776:R50I	R	-	2	0	ZNF479	57198258	0.001000	0.12720	0.837000	0.33122	0.719000	0.41307	0.890000	0.28295	0.669000	0.31146	0.393000	0.25936	AGA		PASS	0.378	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		53	210	53	210	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65426044	65426044	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:65426044G>A	ENST00000304895.4	-	12	1926	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	GUSB_ENST00000345660.6_Missense_Mutation_p.T548M|GUSB_ENST00000421103.1_Missense_Mutation_p.T453M	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	599					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.T599M(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGCACTCTCGTCGGTGCTAC	0.433																																						uc003tun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1795-1797)ACG>ATG		glucuronidase, beta precursor							131.0	130.0	130.0					7																	65426044		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65426044G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1796C>T	7.37:g.65426044G>A	ENSP00000302728:p.Thr599Met					GUSB_uc011kdt.1_Missense_Mutation_p.T453M	p.T599M	NM_000181	NP_000172	P08236	BGLR_HUMAN			12	1872	-			599					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1796C>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	5.145	0.212439	0.09757	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95412	-3.7;-3.7;-3.7	5.77	-11.5	0.00074	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	2.073110	0.02238	N	0.065461	D	0.87577	0.6212	L	0.37850	1.14	0.09310	N	1	P;P	0.48294	0.908;0.57	B;B	0.33339	0.162;0.15	T	0.83082	-0.0137	10	0.46703	T	0.11	.	5.0142	0.14328	0.5211:0.1028:0.273:0.103	.	453;599	E9PCV0;P08236	.;BGLR_HUMAN	M	599;453;548	ENSP00000302728:T599M;ENSP00000391390:T453M;ENSP00000340734:T548M	ENSP00000302728:T599M	T	-	2	0	GUSB	65063479	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.154000	0.01285	-4.523000	0.00044	-2.189000	0.00312	ACG		PASS	0.433	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		96	256	96	256	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71868307	71868307	+	Intron	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:71868307T>G	ENST00000395276.2	-	2	238				CALN1_ENST00000395275.2_Missense_Mutation_p.K16N|CALN1_ENST00000431984.1_Intron|CALN1_ENST00000412588.1_Missense_Mutation_p.K16N			Q9BXU9	CABP8_HUMAN	calneuron 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.K16N(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CGTCCCCCTTTTTCTCATTCT	0.632																																						uc003twb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)AAA>AAC		calneuron 1 isoform 1							12.0	12.0	12.0					7																	71868307		1690	3790	5480	SO:0001627	intron_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71868307T>G	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395276.2:c.6+8735A>C	7.37:g.71868307T>G						CALN1_uc003twc.3_Intron	p.K16N	NM_031468	NP_113656	Q9BXU9	CABP8_HUMAN			2	439	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	Error:Variant_position_missing_in_Q9BXU9_after_alignment					J3KQA7	Missense_Mutation	SNP	ENST00000395276.2	37	c.48A>C	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270804	0.23221	.	.	ENSG00000183166	ENST00000395275;ENST00000412588	T;T	0.69561	-0.41;-0.41	4.94	2.6	0.31112	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	6	0.19147	T	0.46	.	3.701	0.08382	0.0:0.1979:0.1922:0.6098	.	.	.	.	N	16	ENSP00000378690:K16N;ENSP00000391882:K16N	ENSP00000378690:K16N	K	-	3	2	CALN1	71506243	0.948000	0.32251	0.950000	0.38849	0.789000	0.44602	0.671000	0.25172	0.734000	0.32515	0.533000	0.62120	AAA		PASS	0.632	CALN1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252013.3	NM_031468		2	1	2	1	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80427490	80427490	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:80427490T>A	ENST00000265361.3	-	11	1610	c.1049A>T	c.(1048-1050)aAt>aTt	p.N350I	SEMA3C_ENST00000419255.2_Missense_Mutation_p.N350I|SEMA3C_ENST00000536800.1_Missense_Mutation_p.N202I|SEMA3C_ENST00000544525.1_Missense_Mutation_p.N368I	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	350	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.N350I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAAAGGCCCATTAAACACAGT	0.398																																						uc003uhj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)AAT>ATT		semaphorin 3C precursor							60.0	60.0	60.0					7																	80427490		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80427490T>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1049A>T	7.37:g.80427490T>A	ENSP00000265361:p.Asn350Ile					SEMA3C_uc011kgw.1_Missense_Mutation_p.N368I|SEMA3C_uc011kgx.1_Missense_Mutation_p.N202I	p.N350I	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			11	1611	-			350			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1049A>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718784	0.89205	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.979;0.997;0.998	T	0.52283	-0.8596	10	0.59425	D	0.04	.	16.2852	0.82717	0.0:0.0:0.0:1.0	.	202;368;350	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	I	350;350;368;202	ENSP00000265361:N350I;ENSP00000411193:N350I;ENSP00000445649:N368I;ENSP00000438258:N202I	ENSP00000265361:N350I	N	-	2	0	SEMA3C	80265426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.306000	0.77630	0.482000	0.46254	AAT		PASS	0.398	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		6	137	6	137	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83119461	83119461	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:83119461C>A	ENST00000307792.3	-	2	712	c.245G>T	c.(244-246)aGc>aTc	p.S82I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S22I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	82	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S82I(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCTCTCCAAGCTGAGGGAATA	0.413																																						uc003uhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(244-246)AGC>ATC		semaphorin 3E precursor							83.0	77.0	79.0					7																	83119461		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119461C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.245G>T	7.37:g.83119461C>A	ENSP00000303212:p.Ser82Ile						p.S82I	NM_012431	NP_036563	O15041	SEM3E_HUMAN			2	711	-		Medulloblastoma(109;0.109)	82			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.245G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056812	0.55325	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.26373	1.74;1.74;1.74	5.92	1.55	0.23275	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.180038	0.64402	D	0.000015	T	0.39682	0.1087	M	0.83312	2.635	0.39582	D	0.969449	B	0.23316	0.083	B	0.39771	0.309	T	0.46693	-0.9173	10	0.87932	D	0	.	10.6902	0.45867	0.0:0.6603:0.0:0.3397	.	82	O15041	SEM3E_HUMAN	I	82;22;82;22	ENSP00000303212:S82I;ENSP00000405052:S22I;ENSP00000412867:S22I	ENSP00000303212:S82I	S	-	2	0	SEMA3E	82957397	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.169000	0.31871	0.400000	0.25396	-0.237000	0.12165	AGC		PASS	0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		40	80	40	80	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89861917	89861917	+	Silent	SNP	G	G	A	rs201134508		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:89861917G>A	ENST00000287908.3	+	5	1845	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Intron|STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394622.2_Silent_p.P484P|STEAP2_ENST00000394621.2_Silent_p.P484P	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	484					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.P484P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGTCTCCCCGGAGAGGGTCA	0.403													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					uc003ujz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1450-1452)CCG>CCA		six transmembrane epithelial antigen of the							44.0	48.0	47.0					7																	89861917		2201	4299	6500	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861917G>A	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1452G>A	7.37:g.89861917G>A						STEAP2_uc010len.2_Silent_p.P484P|STEAP2_uc003uka.2_Intron|STEAP2_uc003ukb.2_Silent_p.P484P|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Intron	p.P484P	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			5	1845	+	all_hematologic(106;0.112)		484					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1452G>A	CCDS5615.1																																																																																				PASS	0.403	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		28	42	28	42	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90356022	90356022	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:90356022C>G	ENST00000380050.3	+	3	396	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Missense_Mutation_p.Q71E|CDK14_ENST00000406263.1_Missense_Mutation_p.Q43E			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	89					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.Q71E(1)|p.Q89E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACCAGCTAATCAAGTAAAGAG	0.463																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)	4						c.(265-267)CAA>GAA		PFTAIRE protein kinase 1							127.0	111.0	116.0					7																	90356022		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356022C>G		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.265C>G	7.37:g.90356022C>G	ENSP00000369390:p.Gln89Glu					CDK14_uc003ukt.1_Missense_Mutation_p.Q43E|CDK14_uc003ukv.1_Missense_Mutation_p.Q43E|CDK14_uc003uku.1_Missense_Mutation_p.Q43E|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.Q71E|CDK14_uc010les.1_Missense_Mutation_p.Q43E|CDK14_uc011khl.1_Translation_Start_Site	p.Q89E	NM_012395	NP_036527	O94921	CDK14_HUMAN			3	487	+			89					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.265C>G		.	.	.	.	.	.	.	.	.	.	C	15.04	2.713941	0.48622	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263	T;T;T;T;T;T;T	0.69561	2.22;2.22;2.22;2.22;-0.41;-0.39;-0.39	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	L	0.27053	0.805	0.80722	D	1	P;P	0.43578	0.811;0.713	P;P	0.54924	0.764;0.68	T	0.64609	-0.6367	10	0.28530	T	0.3	-14.3221	19.8535	0.96748	0.0:1.0:0.0:0.0	.	71;89	O94921-2;O94921	.;CDK14_HUMAN	E	43;43;43;43;89;43;71;43	ENSP00000393616:Q43E;ENSP00000410770:Q43E;ENSP00000394570:Q43E;ENSP00000406848:Q43E;ENSP00000369390:Q89E;ENSP00000265741:Q71E;ENSP00000385034:Q43E	ENSP00000265741:Q71E	Q	+	1	0	CDK14	90193958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.074000	0.76791	2.701000	0.92244	0.563000	0.77884	CAA		PASS	0.463	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		81	95	81	95	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98535291	98535291	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:98535291A>C	ENST00000359863.4	+	30	4461	c.4252A>C	c.(4252-4254)Ata>Cta	p.I1418L	TRRAP_ENST00000355540.3_Missense_Mutation_p.I1418L|TRRAP_ENST00000446306.3_Missense_Mutation_p.I1417L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1418					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.I1418L(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGCTACCATAGAAGTCGA	0.398																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4252-4254)ATA>CTA		transformation/transcription domain-associated							101.0	87.0	92.0					7																	98535291		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535291A>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4252A>C	7.37:g.98535291A>C	ENSP00000352925:p.Ile1418Leu					TRRAP_uc011kis.1_Missense_Mutation_p.I1418L|TRRAP_uc003upr.2_Missense_Mutation_p.I1110L	p.I1418L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4461	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1418					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4252A>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354317	0.24512	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64260	-0.09;-0.09	6.08	6.08	0.98989	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.17082	0.46	0.80722	D	1	B;B;B	0.19200	0.034;0.005;0.02	B;B;B	0.18871	0.023;0.004;0.007	T	0.42916	-0.9423	10	0.02654	T	1	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1418;1132;1418	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	L	1418;1418;1416	ENSP00000352925:I1418L;ENSP00000347733:I1418L	ENSP00000347733:I1418L	I	+	1	0	TRRAP	98373227	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.224000	0.95209	2.333000	0.79357	0.533000	0.62120	ATA		PASS	0.398	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		8	151	8	151	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101845426	101845426	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:101845426G>C	ENST00000292535.7	+	18	2887	c.2849G>C	c.(2848-2850)cGg>cCg	p.R950P	CUX1_ENST00000546411.2_Missense_Mutation_p.R848P|CUX1_ENST00000550008.2_Missense_Mutation_p.R894P|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R961P|CUX1_ENST00000556210.1_Missense_Mutation_p.R792P|CUX1_ENST00000549414.2_Missense_Mutation_p.R928P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	950					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R950P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCTCACCCGGCAGGTTAAG	0.597																																						uc003uyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2848-2850)CGG>CCG		cut-like homeobox 1 isoform a							96.0	102.0	100.0					7																	101845426		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845426G>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2849G>C	7.37:g.101845426G>C	ENSP00000292535:p.Arg950Pro					CUX1_uc003uys.3_Missense_Mutation_p.R961P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.R950P	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2887	+			950			CUT 2.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2849G>C	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369364	0.82463	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.63580	-0.04;-0.02;-0.05;-0.05;-0.04;-0.05	5.29	5.29	0.74685	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.235757	0.35585	N	0.003105	T	0.78685	0.4322	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.929	T	0.80558	-0.1329	10	0.72032	D	0.01	-28.687	18.9374	0.92590	0.0:0.0:1.0:0.0	.	950;961	P39880;P39880-3	CUX1_HUMAN;.	P	961;950;928;894;848;792	ENSP00000353401:R961P;ENSP00000292535:R950P;ENSP00000446630:R928P;ENSP00000447373:R894P;ENSP00000450125:R848P;ENSP00000451558:R792P	ENSP00000292535:R950P	R	+	2	0	CUX1	101632146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.304000	0.78882	2.483000	0.83821	0.655000	0.94253	CGG		PASS	0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		82	189	82	189	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111409709	111409709	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:111409709T>C	ENST00000437633.1	-	36	3933	c.3677A>G	c.(3676-3678)tAt>tGt	p.Y1226C	DOCK4_ENST00000428084.1_Missense_Mutation_p.Y1235C|DOCK4_ENST00000494651.2_Missense_Mutation_p.Y109C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1226	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Y1226C(1)|p.Y1223C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGCTCGTCATATAAGAGGAG	0.527																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3676-3678)TAT>TGT		dedicator of cytokinesis 4							83.0	81.0	82.0					7																	111409709		1939	4133	6072	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111409709T>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3677A>G	7.37:g.111409709T>C	ENSP00000404179:p.Tyr1226Cys					DOCK4_uc011kml.1_Missense_Mutation_p.Y107C|DOCK4_uc011kmm.1_Missense_Mutation_p.Y133C|DOCK4_uc003vfw.2_Missense_Mutation_p.Y676C|DOCK4_uc003vfy.2_Missense_Mutation_p.Y1271C	p.Y1226C	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			36	3946	-		Acute lymphoblastic leukemia(1;0.0441)	1226			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3677A>G	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.939104|3.939104	0.73557|0.73557	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156	.|T;T;T;T;T	.|0.22539	.|1.95;3.22;1.95;1.95;1.95	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49012|0.49012	0.1532|0.1532	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.995;0.998;0.997;0.998;0.999	T|T	0.52771|0.52771	-0.8531|-0.8531	5|10	.|0.87932	.|D	.|0	.|.	15.794|15.794	0.78394|0.78394	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|133;109;1271;1226;1235	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	V|C	687;1259|1214;1235;109;1226;1223;100;109	.|ENSP00000410746:Y1235C;ENSP00000440944:Y109C;ENSP00000404179:Y1226C;ENSP00000406298:Y100C;ENSP00000406468:Y109C	.|ENSP00000345432:Y1223C	M|Y	-|-	1|2	0|0	DOCK4|DOCK4	111196945|111196945	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.411000|0.411000	0.31082|0.31082	7.788000|7.788000	0.85771|0.85771	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	ATG|TAT		PASS	0.527	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		30	42	30	42	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558772	113558772	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:113558772A>T	ENST00000284601.3	-	1	348	c.280T>A	c.(280-282)Tta>Ata	p.L94I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	94					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.L94I(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCCGTCCCTAAGTCAAAAGTG	0.378																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(280-282)TTA>ATA		protein phosphatase 1, regulatory (inhibitor)							96.0	91.0	93.0					7																	113558772		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558772A>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.280T>A	7.37:g.113558772A>T	ENSP00000284601:p.Leu94Ile						p.L94I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	311	-			94					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.280T>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037587	0.54896	.	.	ENSG00000154415	ENST00000284601	T	0.20332	2.08	6.17	2.6	0.31112	.	0.364841	0.27143	N	0.020729	T	0.27489	0.0675	M	0.72118	2.19	0.26950	N	0.966052	P	0.48764	0.915	P	0.49561	0.615	T	0.08249	-1.0731	10	0.40728	T	0.16	.	5.716	0.17960	0.6925:0.0:0.1923:0.1152	.	94	Q16821	PPR3A_HUMAN	I	94	ENSP00000284601:L94I	ENSP00000284601:L94I	L	-	1	2	PPP1R3A	113346008	0.901000	0.30685	0.504000	0.27639	0.811000	0.45836	2.008000	0.40893	0.566000	0.29273	0.533000	0.62120	TTA		PASS	0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		18	204	18	204	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128494544	128494544	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:128494544G>A	ENST00000325888.8	+	41	7066	c.6805G>A	c.(6805-6807)Ggc>Agc	p.G2269S	FLNC_ENST00000346177.6_Missense_Mutation_p.G2236S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2269					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G2269S(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATCGTCGAGGGCGAGGACAG	0.647																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6805-6807)GGC>AGC		gamma filamin isoform a							24.0	30.0	28.0					7																	128494544		2176	4263	6439	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494544G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6805G>A	7.37:g.128494544G>A	ENSP00000327145:p.Gly2269Ser					FLNC_uc003voa.3_Missense_Mutation_p.G2236S	p.G2269S	NM_001458	NP_001449	Q14315	FLNC_HUMAN			41	7014	+			2269			Filamin 20.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6805G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443203	0.43429	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	N	0.13168	0.305	0.45930	D	0.998768	P;B	0.38335	0.627;0.042	B;B	0.39876	0.312;0.021	T	0.69815	-0.5043	10	0.18710	T	0.47	.	14.7372	0.69424	0.0:0.0:0.8549:0.1451	.	2236;2269	Q14315-2;Q14315	.;FLNC_HUMAN	S	2269;2236	ENSP00000327145:G2269S;ENSP00000344002:G2236S	ENSP00000327145:G2269S	G	+	1	0	FLNC	128281780	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.691000	0.74573	2.301000	0.77427	0.655000	0.94253	GGC		PASS	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	16	4	16	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131853184	131853184	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:131853184G>A	ENST00000359827.3	-	22	5127	c.4165C>T	c.(4165-4167)Ctc>Ttc	p.L1389F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1389F			Q9HCM2	PLXA4_HUMAN	plexin A4	1389					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.L1389F(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCATGATGAGTGAGGCCACG	0.577																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4165-4167)CTC>TTC		plexin A4 isoform 1							92.0	91.0	91.0					7																	131853184		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853184G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4165C>T	7.37:g.131853184G>A	ENSP00000352882:p.Leu1389Phe						p.L1389F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4394	-			1389			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4165C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463636	0.84425	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.21361	2.01;2.01	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41980	-0.9478	10	0.48119	T	0.1	.	14.6174	0.68558	0.0722:0.0:0.9278:0.0	.	1389	Q9HCM2	PLXA4_HUMAN	F	1389	ENSP00000323194:L1389F;ENSP00000352882:L1389F	ENSP00000323194:L1389F	L	-	1	0	PLXNA4	131503724	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.726000	0.74758	2.582000	0.87167	0.462000	0.41574	CTC		PASS	0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	73	15	73	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131912348	131912348	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:131912348A>T	ENST00000359827.3	-	7	2706	c.1744T>A	c.(1744-1746)Tac>Aac	p.Y582N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y582N			Q9HCM2	PLXA4_HUMAN	plexin A4	582					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Y582N(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACATTGTACGTCTCCAGG	0.552																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1744-1746)TAC>AAC		plexin A4 isoform 1							57.0	58.0	57.0					7																	131912348		2019	4186	6205	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131912348A>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1744T>A	7.37:g.131912348A>T	ENSP00000352882:p.Tyr582Asn						p.Y582N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			7	1973	-			582			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1744T>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383954	0.25031	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00832	5.64;5.64	5.73	5.73	0.89815	.	0.054988	0.85682	D	0.000000	T	0.00637	0.0021	N	0.02539	-0.55	0.46874	D	0.999239	B	0.06786	0.001	B	0.06405	0.002	T	0.70149	-0.4951	10	0.17369	T	0.5	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	582	Q9HCM2	PLXA4_HUMAN	N	582	ENSP00000323194:Y582N;ENSP00000352882:Y582N	ENSP00000323194:Y582N	Y	-	1	0	PLXNA4	131562888	1.000000	0.71417	0.924000	0.36721	0.560000	0.35617	3.938000	0.56583	2.198000	0.70561	0.533000	0.62120	TAC		PASS	0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		29	77	29	77	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723568	142723568	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:142723568T>C	ENST00000350513.2	-	1	714	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I218V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATGGTGGAGATAATGTAGGTG	0.468																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)ATC>GTC		olfactory receptor, family 9, subfamily A,							83.0	89.0	87.0					7																	142723568		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723568T>C		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.652A>G	7.37:g.142723568T>C	ENSP00000316518:p.Ile218Val						p.I218V	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	652	-	Melanoma(164;0.059)		218			Cytoplasmic (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.652A>G	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	3.223	-0.159100	0.06544	.	.	ENSG00000179468	ENST00000350513	T	0.00145	8.67	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.366277	0.19633	U	0.109636	T	0.00178	0.0005	L	0.52011	1.625	0.25006	N	0.991436	B	0.14012	0.009	B	0.22386	0.039	T	0.33266	-0.9875	10	0.41790	T	0.15	-18.9447	12.2597	0.54642	0.0:0.0:0.0:1.0	.	218	Q8NGT5	OR9A2_HUMAN	V	218	ENSP00000316518:I218V	ENSP00000316518:I218V	I	-	1	0	OR9A2	142433690	0.821000	0.29204	0.990000	0.47175	0.144000	0.21451	1.237000	0.32695	2.051000	0.60960	0.459000	0.35465	ATC		PASS	0.468	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			23	66	23	66	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417223	150417223	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr7:150417223G>C	ENST00000307194.5	+	3	271	c.131G>C	c.(130-132)gGg>gCg	p.G44A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	44	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.G44A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGCCACTGGGAACAGCATC	0.642																																						uc003whq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(130-132)GGG>GCG		GTPase, IMAP family member 1							73.0	79.0	77.0					7																	150417223		2203	4300	6503	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417223G>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.131G>C	7.37:g.150417223G>C	ENSP00000302833:p.Gly44Ala					GIMAP1_uc003whp.2_Missense_Mutation_p.G52A	p.G44A	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	218	+			44			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.131G>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404923	0.83230	.	.	ENSG00000213203	ENST00000307194	T	0.61158	0.13	4.82	4.82	0.62117	AIG1 (1);	0.178223	0.35970	U	0.002865	T	0.73606	0.3608	M	0.74467	2.265	0.43326	D	0.995354	D	0.76494	0.999	D	0.77557	0.99	T	0.73927	-0.3828	10	0.44086	T	0.13	.	13.2771	0.60194	0.0:0.0:1.0:0.0	.	44	Q8WWP7	GIMA1_HUMAN	A	44	ENSP00000302833:G44A	ENSP00000302833:G44A	G	+	2	0	GIMAP1	150048156	1.000000	0.71417	0.593000	0.28771	0.795000	0.44927	7.196000	0.77805	2.531000	0.85337	0.655000	0.94253	GGG		PASS	0.642	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		55	197	55	197	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42940421	42940421	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:42940421A>G	ENST00000302279.3	+	9	1330	c.1136A>G	c.(1135-1137)cAa>cGa	p.Q379R	FNTA_ENST00000529687.1_Missense_Mutation_p.Q228R|FNTA_ENST00000342116.4_Missense_Mutation_p.Q312R	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	379					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.Q379R(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AATGTACAGCAATAACACCAT	0.403																																						uc003xps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1135-1137)CAA>CGA		farnesyltransferase, CAAX box, alpha isoform a							94.0	80.0	85.0					8																	42940421		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940421A>G	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1136A>G	8.37:g.42940421A>G	ENSP00000303423:p.Gln379Arg					FNTA_uc003xpt.2_Missense_Mutation_p.Q288R|FNTA_uc003xpu.2_Missense_Mutation_p.Q312R|FNTA_uc003xpv.2_RNA	p.Q379R	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		9	1184	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	379					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.1136A>G	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001754	0.35320	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	.	0.515163	0.20695	N	0.087400	T	0.26846	0.0657	N	0.08118	0	0.26366	N	0.976971	D;P;P	0.52996	0.957;0.596;0.808	P;B;B	0.49085	0.6;0.067;0.307	T	0.13229	-1.0517	9	0.87932	D	0	.	10.0432	0.42171	0.8308:0.1692:0.0:0.0	.	312;288;379	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	R	379;312	.	ENSP00000303423:Q379R	Q	+	2	0	FNTA	43059578	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	4.370000	0.59517	2.182000	0.69389	0.528000	0.53228	CAA		PASS	0.403	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		6	98	6	98	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52359584	52359584	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:52359584T>A	ENST00000356297.4	-	12	1605	c.1505A>T	c.(1504-1506)cAg>cTg	p.Q502L	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q502L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	502	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q502L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TACAGTCAGCTGCACAGACAC	0.448																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1504-1506)CAG>CTG		peroxidasin homolog-like precursor							159.0	158.0	158.0					8																	52359584		2002	4171	6173	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359584T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1505A>T	8.37:g.52359584T>A	ENSP00000348645:p.Gln502Leu						p.Q502L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			12	1606	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	502			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1505A>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	6.136	0.393395	0.11638	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67523	-0.27;-0.27	4.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47507	0.1449	L	0.28740	0.885	0.31410	N	0.675628	B	0.18741	0.03	B	0.22152	0.038	T	0.43798	-0.9369	9	0.09843	T	0.71	.	5.9483	0.19232	0.2323:0.0:0.0:0.7677	.	502	A1KZ92	PXDNL_HUMAN	L	502	ENSP00000348645:Q502L;ENSP00000444865:Q502L	ENSP00000348645:Q502L	Q	-	2	0	PXDNL	52522137	0.999000	0.42202	0.423000	0.26634	0.061000	0.15899	1.996000	0.40776	1.448000	0.47680	0.383000	0.25322	CAG		PASS	0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		49	244	49	244	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538412	55538412	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:55538412T>G	ENST00000220676.1	+	4	2118	c.1970T>G	c.(1969-1971)cTt>cGt	p.L657R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	657					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L657R(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAACAAAACTTCCAAAAAAT	0.358																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1969-1971)CTT>CGT		retinitis pigmentosa RP1 protein							29.0	31.0	30.0					8																	55538412		2199	4286	6485	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538412T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1970T>G	8.37:g.55538412T>G	ENSP00000220676:p.Leu657Arg					RP1_uc011ldy.1_Intron	p.L657R	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2118	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	657						Missense_Mutation	SNP	ENST00000220676.1	37	c.1970T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	8.477	0.858913	0.17178	.	.	ENSG00000104237	ENST00000220676	T	0.29142	1.58	5.67	-0.363	0.12556	.	1.752470	0.02894	N	0.134501	T	0.22085	0.0532	L	0.44542	1.39	0.09310	N	1	P	0.41947	0.766	B	0.34038	0.174	T	0.19484	-1.0304	10	0.44086	T	0.13	.	3.2444	0.06792	0.3799:0.3696:0.0:0.2504	.	657	P56715	RP1_HUMAN	R	657	ENSP00000220676:L657R	ENSP00000220676:L657R	L	+	2	0	RP1	55700965	0.000000	0.05858	0.373000	0.26003	0.974000	0.67602	0.018000	0.13422	-0.021000	0.14009	0.482000	0.46254	CTT		PASS	0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	66	26	66	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547217	67547217	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:67547217C>A	ENST00000310421.4	-	3	3446	c.3188G>T	c.(3187-3189)aGt>aTt	p.S1063I		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1063					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.S1063I(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTAGTGGAACTATTACTAAA	0.418																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(3187-3189)AGT>ATT		valosin containing protein (p97)/p47 complex							140.0	138.0	139.0					8																	67547217		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547217C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3188G>T	8.37:g.67547217C>A	ENSP00000309031:p.Ser1063Ile						p.S1063I	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3447	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1063					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.3188G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200677	0.58126	.	.	ENSG00000175073	ENST00000310421	T	0.37584	1.19	6.02	6.02	0.97574	.	0.091941	0.85682	D	0.000000	T	0.47414	0.1444	L	0.32530	0.975	0.54753	D	0.999981	P	0.50943	0.94	P	0.61201	0.885	T	0.39941	-0.9589	10	0.87932	D	0	-13.7429	14.858	0.70355	0.0:0.8563:0.1436:0.0	.	1063	Q96JH7	VCIP1_HUMAN	I	1063	ENSP00000309031:S1063I	ENSP00000309031:S1063I	S	-	2	0	VCPIP1	67709771	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.847000	0.55895	2.859000	0.98148	0.591000	0.81541	AGT		PASS	0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			38	260	38	260	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767456	77767456	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:77767456C>A	ENST00000521891.2	+	10	8747	c.8299C>A	c.(8299-8301)Ctt>Att	p.L2767I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2722I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2741I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2722I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2722					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2751I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCGAAGAATCTTTTAAGCCC	0.383										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8164-8166)CTT>ATT		zinc finger homeodomain 4							45.0	44.0	44.0					8																	77767456		1841	4083	5924	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767456C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8299C>A	8.37:g.77767456C>A	ENSP00000430497:p.Leu2767Ile	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.L2767I|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2722I	p.L2722I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8551	+			2722					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8164C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493704	0.26774	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.47;0.52;0.49;0.49	4.97	4.97	0.65823	.	0.000000	0.39909	U	0.001237	T	0.64692	0.2621	L	0.48642	1.525	0.35302	D	0.78314	D;D;D	0.61697	0.983;0.99;0.99	P;P;P	0.61003	0.766;0.882;0.882	T	0.72534	-0.4264	10	0.54805	T	0.06	.	18.4163	0.90571	0.0:1.0:0.0:0.0	.	2722;2722;2767	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2767;2751;2722;2722;2741	ENSP00000430497:L2767I;ENSP00000399605:L2722I;ENSP00000050961:L2722I;ENSP00000430848:L2741I	ENSP00000050961:L2722I	L	+	1	0	ZFHX4	77930011	1.000000	0.71417	0.976000	0.42696	0.584000	0.36387	5.510000	0.67018	2.583000	0.87209	0.555000	0.69702	CTT		PASS	0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		28	54	28	54	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768504	77768504	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:77768504C>A	ENST00000521891.2	+	10	9795	c.9347C>A	c.(9346-9348)tCc>tAc	p.S3116Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3071Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3090Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3071Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3071	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S3100Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGTCCATCCTCCTTGCCG	0.502										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9211-9213)TCC>TAC		zinc finger homeodomain 4							36.0	37.0	37.0					8																	77768504		1915	4132	6047	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768504C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9347C>A	8.37:g.77768504C>A	ENSP00000430497:p.Ser3116Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S3116Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S3071Y	p.S3071Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9599	+			3071			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9212C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709230	0.48517	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60797	0.45;0.48;0.16;0.46	5.45	4.57	0.56435	.	0.000000	0.44285	U	0.000478	T	0.74581	0.3735	M	0.68952	2.095	0.54753	D	0.999988	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.83275	0.982;0.996;0.994	T	0.78650	-0.2121	10	0.87932	D	0	.	16.5229	0.84322	0.0:0.8695:0.1305:0.0	.	3071;3071;3116	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	3116;3100;3071;3071;3090	ENSP00000430497:S3116Y;ENSP00000399605:S3071Y;ENSP00000050961:S3071Y;ENSP00000430848:S3090Y	ENSP00000050961:S3071Y	S	+	2	0	ZFHX4	77931059	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.928000	0.70088	1.528000	0.49103	0.655000	0.94253	TCC		PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	54	33	54	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92346641	92346641	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:92346641A>C	ENST00000276609.3	+	6	1000	c.761A>C	c.(760-762)aAa>aCa	p.K254T	SLC26A7_ENST00000523719.1_Missense_Mutation_p.K254T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K254T	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K254T(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTTAAAAGGAAAATTAAAGTT	0.368																																						uc003yex.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(760-762)AAA>ACA		solute carrier family 26, member 7 isoform a							115.0	109.0	111.0					8																	92346641		2202	4299	6501	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92346641A>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.761A>C	8.37:g.92346641A>C	ENSP00000276609:p.Lys254Thr					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.K254T|SLC26A7_uc003yfa.2_Missense_Mutation_p.K254T	p.K254T	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1039	+			254			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.761A>C	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.33|14.33	2.503440|2.503440	0.44558|0.44558	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000520818|ENST00000523719;ENST00000276609;ENST00000309536	D|D;D;D	0.93547|0.93307	-3.24|-3.2;-3.2;-3.2	5.73|5.73	4.58|4.58	0.56647|0.56647	.|Sulphate transporter (1);	0.124032|0.124032	0.56097|0.56097	D|D	0.000028|0.000028	D|D	0.93523|0.93523	0.7933|0.7933	M|M	0.85710|0.85710	2.77|2.77	0.30376|0.30376	N|N	0.782456|0.782456	.|B;B	.|0.28713	.|0.184;0.22	.|B;B	.|0.35770	.|0.133;0.21	D|D	0.91371|0.91371	0.5119|0.5119	8|10	0.56958|0.54805	D|T	0.05|0.06	.|.	9.064|9.064	0.36451|0.36451	0.8591:0.0:0.1409:0.0|0.8591:0.0:0.1409:0.0	.|.	.|254;254	.|Q8TE54-2;Q8TE54	.|.;S26A7_HUMAN	Q|T	122|254	ENSP00000428747:K122Q|ENSP00000428849:K254T;ENSP00000276609:K254T;ENSP00000309504:K254T	ENSP00000428747:K122Q|ENSP00000276609:K254T	K|K	+|+	1|2	0|0	SLC26A7|SLC26A7	92415817|92415817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.694000|2.694000	0.47035|0.47035	1.105000|1.105000	0.41606|0.41606	-0.250000|-0.250000	0.11733|0.11733	AAA|AAA		PASS	0.368	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			40	64	40	64	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961551	99961551	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:99961551C>A	ENST00000297565.4	+	2	867	c.371C>A	c.(370-372)gCt>gAt	p.A124D	OSR2_ENST00000435298.2_Missense_Mutation_p.A124D|OSR2_ENST00000522510.1_Missense_Mutation_p.A124D|OSR2_ENST00000457907.2_Missense_Mutation_p.A245D|OSR2_ENST00000523368.1_Missense_Mutation_p.A124D	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	124					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.A124D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTGGCGGTGGCTGCCACGCAA	0.612																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(370-372)GCT>GAT		odd-skipped related 2 isoform a							80.0	89.0	86.0					8																	99961551		1942	4150	6092	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961551C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.371C>A	8.37:g.99961551C>A	ENSP00000297565:p.Ala124Asp					OSR2_uc010mbn.2_Missense_Mutation_p.A124D|OSR2_uc003yiq.2_Missense_Mutation_p.A124D|OSR2_uc011lgx.1_Missense_Mutation_p.A245D	p.A124D	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	906	+	Breast(36;4.14e-07)		124					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.371C>A	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711829	0.68730	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.09911	3.0;3.02;3.21;3.02;2.93;3.11;3.25	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.77004	0.94;0.974;0.94;0.989	T	0.01024	-1.1477	9	.	.	.	-16.041	18.1763	0.89762	0.0:1.0:0.0:0.0	.	245;124;124;124	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	D	124;124;124;124;245;177;124	ENSP00000430041:A124D;ENSP00000297565:A124D;ENSP00000402862:A124D;ENSP00000430780:A124D;ENSP00000414657:A245D;ENSP00000430074:A177D;ENSP00000429910:A124D	.	A	+	2	0	OSR2	100030727	1.000000	0.71417	0.997000	0.53966	0.472000	0.32918	7.609000	0.82925	2.722000	0.93159	0.655000	0.94253	GCT		PASS	0.612	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		107	192	107	192	---	---	---	---
SNX31	169166	broad.mit.edu	37	8	101661695	101661695	+	Silent	SNP	C	C	T	rs556203287		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:101661695C>T	ENST00000311812.2	-	1	198	c.48G>A	c.(46-48)gcG>gcA	p.A16A		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	16	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.A16A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GGCCCCCCAGCGCGTCGGACC	0.697																																						uc003yjr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)GCG>GCA		sorting nexin 31							9.0	11.0	10.0					8																	101661695		2114	4226	6340	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661695C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.48G>A	8.37:g.101661695C>T							p.A16A	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		1	199	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		16			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.48G>A	CCDS6288.1																																																																																				PASS	0.697	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		8	12	8	12	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121519088	121519088	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:121519088C>T	ENST00000305949.1	+	16	1915	c.1870C>T	c.(1870-1872)Ccg>Tcg	p.P624S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	624	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.P624S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCAACCTTTACCGATTCAAAA	0.333																																						uc003ypc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1870-1872)CCG>TCG		Mdm2, transformed 3T3 cell double minute 2, p53							77.0	74.0	75.0					8																	121519088		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121519088C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1870C>T	8.37:g.121519088C>T	ENSP00000303398:p.Pro624Ser						p.P624S	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		16	1915	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		624			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1870C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446213	0.01089	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.18	4.27	0.50696	.	0.816967	0.11395	N	0.568412	T	0.25901	0.0631	N	0.14661	0.345	0.09310	N	1	B	0.23249	0.082	B	0.18871	0.023	T	0.07328	-1.0778	9	0.07030	T	0.85	0.3346	14.7655	0.69634	0.1456:0.8544:0.0:0.0	.	624	Q96DY7	MTBP_HUMAN	S	624	.	ENSP00000303398:P624S	P	+	1	0	MTBP	121588269	0.527000	0.26306	0.706000	0.30403	0.128000	0.20619	2.517000	0.45529	1.129000	0.42072	0.313000	0.20887	CCG		PASS	0.333	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		23	109	23	109	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133044286	133044286	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:133044286G>T	ENST00000443356.2	-	13	1007	c.921C>A	c.(919-921)ttC>ttA	p.F307L	OC90_ENST00000262283.5_Missense_Mutation_p.F503L|OC90_ENST00000254627.3_Missense_Mutation_p.F291L|OC90_ENST00000603859.1_Missense_Mutation_p.F291L			Q02509	OC90_HUMAN	otoconin 90	307					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.F265L(1)|p.F503L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGGAAGGTGAATCTGTCAC	0.547																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(871-873)TTC>TTA		otoconin 90							114.0	111.0	112.0					8																	133044286		2066	4224	6290	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044286G>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.921C>A	8.37:g.133044286G>T	ENSP00000390050:p.Phe307Leu					OC90_uc011lix.1_Missense_Mutation_p.F291L	p.F291L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		11	873	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		307					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.873C>A		.	.	.	.	.	.	.	.	.	.	G	8.186	0.794947	0.16327	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.28666	1.63;1.62;1.6	5.91	2.96	0.34315	.	1.239510	0.05235	N	0.511158	T	0.14184	0.0343	N	0.11201	0.11	0.20821	N	0.999841	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-1.756	4.0687	0.09872	0.0734:0.2661:0.4068:0.2537	.	291;307	Q02509-2;Q02509	.;OC90_HUMAN	L	291;307;503	ENSP00000254627:F291L;ENSP00000390050:F307L;ENSP00000262283:F503L	ENSP00000254627:F291L	F	-	3	2	RP11-240B13.2;OC90	133113468	0.965000	0.33210	0.830000	0.32933	0.868000	0.49771	0.868000	0.27982	0.777000	0.33496	0.655000	0.94253	TTC		PASS	0.547	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		33	112	33	112	---	---	---	---
SLA	6503	broad.mit.edu	37	8	134062194	134062194	+	Silent	SNP	A	A	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:134062194A>C	ENST00000338087.5	-	5	1020	c.201T>G	c.(199-201)ggT>ggG	p.G67G	SLA_ENST00000518565.1_5'UTR|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Silent_p.G84G|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Silent_p.G107G|SLA_ENST00000517648.1_Silent_p.G84G|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	67	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.G107G(1)|p.G67G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AACTCTCTCGACCAGTGCTAA	0.438																																						uc003ytz.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)|liver(1)	2						c.(199-201)GGT>GGG		Src-like-adaptor isoform a							145.0	121.0	129.0					8																	134062194		2203	4300	6503	SO:0001819	synonymous_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134062194A>C		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.201T>G	8.37:g.134062194A>C						TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.G84G|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Silent_p.G84G|SLA_uc010mdy.1_Silent_p.G67G|SLA_uc010mdz.1_Silent_p.G67G|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.G107G	p.G67G	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		5	1033	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	67			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Silent	SNP	ENST00000338087.5	37	c.201T>G	CCDS6370.1																																																																																				PASS	0.438	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			25	117	25	117	---	---	---	---
FOXH1	8928	broad.mit.edu	37	8	145699868	145699868	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:145699868A>G	ENST00000377317.4	-	3	1429	c.851T>C	c.(850-852)aTc>aCc	p.I284T	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	284	SMAD-interaction domain (SID).				aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|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)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)	p.I284T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGAGTGTAGATAGGCAAGTA	0.652																																						uc003zdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)ATC>ACC		forkhead box H1							43.0	43.0	43.0					8																	145699868		2203	4297	6500	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding	g.chr8:145699868A>G	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.851T>C	8.37:g.145699868A>G	ENSP00000366534:p.Ile284Thr						p.I284T	NM_003923	NP_003914	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	1430	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		284			SMAD-interaction domain (SID).		D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.851T>C	CCDS6428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.641107|3.641107	0.67244|0.67244	.|.	.|.	ENSG00000160973|ENSG00000160973	ENST00000377317|ENST00000292541	D|.	0.95949|.	-3.86|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.213163|.	0.38897|.	N|.	0.001523|.	T|T	0.57140|0.57140	0.2033|0.2033	M|M	0.62723|0.62723	1.935|1.935	0.32719|0.32719	N|N	0.510581|0.510581	D|.	0.89917|.	1.0|.	D|.	0.66716|.	0.946|.	T|T	0.64089|0.64089	-0.6489|-0.6489	10|6	0.25751|0.25751	T|T	0.34|0.34	-35.1545|-35.1545	10.8563|10.8563	0.46800|0.46800	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	284|.	O75593|.	FOXH1_HUMAN|.	T|P	284|249	ENSP00000366534:I284T|.	ENSP00000366534:I284T|ENSP00000292541:S249P	I|S	-|-	2|1	0|0	FOXH1|FOXH1	145670676|145670676	0.983000|0.983000	0.35010|0.35010	0.994000|0.994000	0.49952|0.49952	0.878000|0.878000	0.50629|0.50629	1.859000|1.859000	0.39418|0.39418	2.054000|2.054000	0.61138|0.61138	0.482000|0.482000	0.46254|0.46254	ATC|TCT		PASS	0.652	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			22	87	22	87	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773569	145773569	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr8:145773569G>A	ENST00000276826.5	-	4	1102	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P301S|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P301S|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	301	Pro-rich.				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.P301S(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						GGGGAGGAGGGCTGCGAGTCC	0.682																																						uc003zdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CCC>TCC		KIAA1688 protein							15.0	20.0	19.0					8																	145773569		2191	4277	6468	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.chr8:145773569G>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.901C>T	8.37:g.145773569G>A	ENSP00000276826:p.Pro301Ser					ARHGAP39_uc011llk.1_Missense_Mutation_p.P301S|ARHGAP39_uc003zds.1_Missense_Mutation_p.P301S	p.P301S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1456	-			301			Pro-rich.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	14.95	2.687841	0.48097	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.79247	-1.25;-1.01;-1.25	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	L	0.61218	1.895	0.46356	D	0.999003	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87752	0.2592	10	0.87932	D	0	-10.5859	16.5924	0.84770	0.0:0.0:1.0:0.0	.	301;301	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	S	301	ENSP00000276826:P301S;ENSP00000366522:P301S;ENSP00000445075:P301S	ENSP00000276826:P301S	P	-	1	0	ARHGAP39	145744377	1.000000	0.71417	0.998000	0.56505	0.206000	0.24218	6.553000	0.73918	2.513000	0.84729	0.655000	0.94253	CCC		PASS	0.682	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			26	47	26	47	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631226	32631226	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr9:32631226T>C	ENST00000242310.4	-	1	4441	c.4352A>G	c.(4351-4353)gAa>gGa	p.E1451G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1451	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.E1451G(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACGCACATTTTCACGGAGTGT	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4351-4353)GAA>GGA		TBP-associated factor RNA polymerase 1-like							255.0	215.0	228.0					9																	32631226		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631226T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4352A>G	9.37:g.32631226T>C	ENSP00000418379:p.Glu1451Gly					uc003zrh.1_5'Flank	p.E1451G	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4442	-			1451			Bromo 1.		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4352A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573992	0.86542	.	.	ENSG00000122728	ENST00000242310	T	0.32753	1.44	1.17	1.17	0.20885	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.85299	2.745	0.53688	D	0.999972	D	0.54601	0.967	P	0.55260	0.772	T	0.44726	-0.9309	10	0.72032	D	0.01	.	6.3927	0.21595	0.0:0.0:0.0:1.0	.	1451	Q8IZX4	TAF1L_HUMAN	G	1451	ENSP00000418379:E1451G	ENSP00000418379:E1451G	E	-	2	0	TAF1L	32621226	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	5.241000	0.65384	0.431000	0.26258	0.172000	0.16884	GAA		PASS	0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			72	214	72	214	---	---	---	---
XPA	7507	broad.mit.edu	37	9	100459559	100459559	+	Missense_Mutation	SNP	C	C	A	rs200218050		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr9:100459559C>A	ENST00000375128.4	-	1	80	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.G6W(1)|p.G6R(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GGCAAAGCCCCGTCGGCCGCC	0.726			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc004axr.3			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	Mis|N|F|S	"""xeroderma pigmentosum, complementation group A"""			E		skin basal cell|skin squamous cell|melanoma			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(16-18)GGG>TGG	NER	xeroderma pigmentosum, complementation group A							12.0	16.0	15.0					9																	100459559		1830	3825	5655	SO:0001583	missense	7507	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459559C>A	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.16G>T	9.37:g.100459559C>A	ENSP00000364270:p.Gly6Trp					XPA_uc004axs.3_RNA	p.G6W	NM_000380	NP_000371	P23025	XPA_HUMAN			1	133	-		Acute lymphoblastic leukemia(62;0.158)	6			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.16G>T	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438948	0.43326	.	.	ENSG00000136936	ENST00000375128	T	0.60797	0.16	4.62	-1.25	0.09405	.	1.710250	0.02794	N	0.122373	T	0.34221	0.0890	N	0.08118	0	0.09310	N	1	P	0.46987	0.888	B	0.34590	0.186	T	0.41928	-0.9481	10	0.66056	D	0.02	.	8.745	0.34580	0.0:0.5458:0.0:0.4542	.	6	P23025	XPA_HUMAN	W	6	ENSP00000364270:G6W	ENSP00000364270:G6W	G	-	1	0	XPA	99499380	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.006000	0.13152	-0.285000	0.09089	0.462000	0.41574	GGG		PASS	0.726	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		16	13	16	13	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122075418	122075418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr9:122075418G>T	ENST00000265922.3	-	2	677	c.216C>A	c.(214-216)taC>taA	p.Y72*	BRINP1_ENST00000373964.2_Nonsense_Mutation_p.Y72*	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	72	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.Y72*(1)									GGTCTTACCTGTATATTTTAT	0.453																																						uc004bkc.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(214-216)TAC>TAA		deleted in bladder cancer 1 precursor							52.0	51.0	51.0					9																	122075418		2203	4300	6503	SO:0001587	stop_gained	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075418G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.216C>A	9.37:g.122075418G>T	ENSP00000265922:p.Tyr72*					DBC1_uc004bkd.2_Nonsense_Mutation_p.Y72*	p.Y72*	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	672	-			72			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.216C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	41	8.727461	0.98931	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	.	.	.	5.26	5.26	0.73747	.	0.055638	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2756	18.859	0.92265	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000265922:Y72X	Y	-	3	2	DBC1	121115239	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.782000	0.68973	2.473000	0.83533	0.561000	0.74099	TAC		PASS	0.453	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		20	30	20	30	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13330441	13330441	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr10:13330441G>C	ENST00000263038.4	-	6	655	c.597C>G	c.(595-597)atC>atG	p.I199M	PHYH_ENST00000396913.2_Missense_Mutation_p.I99M|PHYH_ENST00000396920.3_Missense_Mutation_p.I182M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	199			I -> F (in RD). {ECO:0000269|PubMed:10767344}.		cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.I199M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TGTTCCGGCTGATGTGCTCCA	0.627																																						uc001imf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)ATC>ATG		phytanoyl-CoA 2-hydroxylase isoform a precursor	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						71.0	67.0	68.0					10																	13330441		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330441G>C		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.597C>G	10.37:g.13330441G>C	ENSP00000263038:p.Ile199Met					PHYH_uc001ime.2_Missense_Mutation_p.I99M|PHYH_uc001img.2_Missense_Mutation_p.I182M	p.I199M	NM_006214	NP_006205	O14832	PAHX_HUMAN			6	685	-		Ovarian(717;0.0448)	199		I -> F (in RD).			A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.597C>G	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012456	0.35511	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.69	-9.37	0.00626	.	0.269469	0.42682	D	0.000662	D	0.91815	0.7410	M	0.78637	2.42	0.19300	N	0.999971	D;D	0.69078	0.997;0.979	D;D	0.68943	0.961;0.934	D	0.88979	0.3406	10	0.54805	T	0.06	-18.2625	17.7	0.88292	0.6042:0.0:0.3958:0.0	.	182;199	B1ALH6;O14832	.;PAHX_HUMAN	M	99;199;182;99;201	ENSP00000380121:I99M;ENSP00000263038:I199M;ENSP00000380126:I182M;ENSP00000412525:I99M;ENSP00000420117:I201M	ENSP00000263038:I199M	I	-	3	3	PHYH	13370447	0.001000	0.12720	0.121000	0.21740	0.019000	0.09904	-1.068000	0.03447	-1.798000	0.01250	-1.105000	0.02106	ATC		PASS	0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			45	44	45	44	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69935098	69935098	+	Silent	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr10:69935098G>A	ENST00000358913.5	+	12	3071	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A	MYPN_ENST00000540630.1_Silent_p.A861A|MYPN_ENST00000354393.2_Silent_p.A586A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	861					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.A861A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGGATTAGCGAAGAAAAATA	0.418																																						uc001jnm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(2581-2583)GCG>GCA		myopalladin							81.0	76.0	78.0					10																	69935098		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69935098G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2583G>A	10.37:g.69935098G>A						MYPN_uc001jnn.3_Silent_p.A586A|MYPN_uc001jno.3_Silent_p.A861A|MYPN_uc009xpt.2_Silent_p.A861A|MYPN_uc010qit.1_Silent_p.A567A|MYPN_uc010qiu.1_Intron	p.A861A	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			13	2768	+			861					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.2583G>A	CCDS7275.1																																																																																				PASS	0.418	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		25	27	25	27	---	---	---	---
BLNK	29760	broad.mit.edu	37	10	97969612	97969612	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr10:97969612G>C	ENST00000224337.5	-	9	869	c.728C>G	c.(727-729)tCc>tGc	p.S243C	BLNK_ENST00000413476.2_Missense_Mutation_p.S243C|BLNK_ENST00000371176.2_Missense_Mutation_p.S220C|BLNK_ENST00000427367.2_Missense_Mutation_p.S243C	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	243	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S243C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TGGCAACGGGGATGGTGCAGC	0.567																																						uc001kls.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(727-729)TCC>TGC		B-cell linker isoform 1							159.0	154.0	156.0					10																	97969612		2203	4300	6503	SO:0001583	missense	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97969612G>C	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.728C>G	10.37:g.97969612G>C	ENSP00000224337:p.Ser243Cys					BLNK_uc001kme.3_Missense_Mutation_p.S138C|BLNK_uc001klt.3_Missense_Mutation_p.S134C|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.S161C|BLNK_uc001klv.3_Missense_Mutation_p.S138C|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.S220C|BLNK_uc001kly.3_Missense_Mutation_p.S243C|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.S220C|BLNK_uc001kmb.3_Missense_Mutation_p.S39C|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.S161C|BLNK_uc009xvd.2_RNA	p.S243C	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	9	906	-		Colorectal(252;0.083)	243			Pro-rich.		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	c.728C>G	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728481	0.15507	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.62	3.71	0.42584	.	0.632069	0.17921	N	0.157511	T	0.61299	0.2336	M	0.70275	2.135	0.38649	D	0.951796	B;B;B;B;B;B	0.30104	0.011;0.021;0.033;0.268;0.015;0.016	B;B;B;B;B;B	0.29176	0.009;0.013;0.037;0.099;0.01;0.005	T	0.63120	-0.6708	9	0.51188	T	0.08	-9.2266	12.9167	0.58211	0.0:0.311:0.689:0.0	.	220;243;220;138;220;243	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	C	243;220;243;243;138	.	ENSP00000224337:S243C	S	-	2	0	BLNK	97959602	1.000000	0.71417	0.998000	0.56505	0.124000	0.20399	1.028000	0.30128	0.798000	0.33994	0.655000	0.94253	TCC		PASS	0.567	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		54	201	54	201	---	---	---	---
NANOS1	340719	broad.mit.edu	37	10	120796677	120796677	+	IGR	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr10:120796677G>A	ENST00000425699.1	+	0	4627				EIF3A_ENST00000369144.3_Silent_p.D1291D|EIF3A_ENST00000541549.1_Silent_p.D1257D	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D1291D(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		GGTCCCTGTCGTCTCTTAGAT	0.532																																						uc001ldu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3871-3873)GAC>GAT		eukaryotic translation initiation factor 3,							241.0	213.0	223.0					10																	120796677		2203	4300	6503	SO:0001628	intergenic_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120796677G>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120796677G>A						EIF3A_uc010qsu.1_Silent_p.D1257D	p.D1291D	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	21	4019	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1291			Asp-rich.			Silent	SNP	ENST00000425699.1	37	c.3873C>T	CCDS7607.1																																																																																				PASS	0.532	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			53	243	53	243	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124697585	124697585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr10:124697585C>A	ENST00000481909.1	-	5	963	c.739G>T	c.(739-741)Gga>Tga	p.G247*	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	247								p.G247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTTAAGGTTCCTAAGGTAGAT	0.403																																						uc001lgw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(739-741)GGA>TGA		hypothetical protein LOC80007							133.0	123.0	126.0					10																	124697585		2203	4300	6503	SO:0001587	stop_gained	80007							g.chr10:124697585C>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.739G>T	10.37:g.124697585C>A	ENSP00000419126:p.Gly247*					C10orf88_uc001lgx.2_Nonsense_Mutation_p.G149*	p.G247*	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	964	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	247					Q0P6C6|Q8N597	Nonsense_Mutation	SNP	ENST00000481909.1	37	c.739G>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119810	0.94385	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.1	4.1	0.47936	.	0.179052	0.36034	U	0.002823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7102	0.40240	0.0:0.8966:0.0:0.1034	.	.	.	.	X	247	.	ENSP00000419126:G247X	G	-	1	0	C10orf88	124687575	0.000000	0.05858	0.010000	0.14722	0.178000	0.23041	0.736000	0.26130	1.965000	0.57142	0.585000	0.79938	GGA		PASS	0.403	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		60	72	60	72	---	---	---	---
SIRT3	23410	broad.mit.edu	37	11	233040	233040	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:233040G>T	ENST00000382743.4	-	3	751	c.649C>A	c.(649-651)Cat>Aat	p.H217N	SIRT3_ENST00000524564.1_Missense_Mutation_p.H153N|SIRT3_ENST00000532956.1_Missense_Mutation_p.H217N|SIRT3_ENST00000529382.1_Missense_Mutation_p.H75N|SIRT3_ENST00000525319.1_Missense_Mutation_p.H136N|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	217	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)	p.H217N(1)		endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCCTTGTCATGAAGCAGCCGG	0.522																																						uc001lok.3																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(649-651)CAT>AAT		sirtuin 3 isoform a							99.0	95.0	96.0					11																	233040		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233040G>T	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.649C>A	11.37:g.233040G>T	ENSP00000372191:p.His217Asn					SIRT3_uc001loj.3_Missense_Mutation_p.H75N|SIRT3_uc010qvm.1_Missense_Mutation_p.H153N|SIRT3_uc010qvn.1_Missense_Mutation_p.H136N|SIRT3_uc010qvo.1_Missense_Mutation_p.H217N|SIRT3_uc010qvp.1_Missense_Mutation_p.H217N|SIRT3_uc010qvq.1_Missense_Mutation_p.H75N|SIRT3_uc009ybt.1_RNA	p.H217N	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	683	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	217			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.649C>A	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.664333	0.67700	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.37	5.37	0.77165	.	0.055258	0.64402	D	0.000001	T	0.59376	0.2189	M	0.62209	1.925	0.40710	D	0.982568	D;D;D;B;P	0.69078	0.97;0.997;0.994;0.341;0.604	P;D;D;P;B	0.74674	0.818;0.984;0.96;0.539;0.41	T	0.58521	-0.7622	10	0.39692	T	0.17	-19.9442	13.128	0.59366	0.0:0.0:0.8402:0.1598	.	217;217;136;153;217	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	N	217;136;153;217;75;75	ENSP00000372191:H217N;ENSP00000435464:H136N;ENSP00000432937:H153N;ENSP00000433077:H217N;ENSP00000437216:H75N;ENSP00000432857:H75N	ENSP00000372191:H217N	H	-	1	0	SIRT3	223040	1.000000	0.71417	0.055000	0.19348	0.961000	0.63080	4.720000	0.61944	2.520000	0.84964	0.651000	0.88453	CAT		PASS	0.522	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			39	31	39	31	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4389372	4389372	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:4389372G>T	ENST00000408920.2	-	1	244	c.154C>A	c.(154-156)Ctc>Atc	p.L52I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	52					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L52I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCTTTGTGAGGATAATGAAG	0.527																																						uc010qye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CTC>ATC		olfactory receptor, family 52, subfamily B,							70.0	75.0	73.0					11																	4389372		2150	4264	6414	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389372G>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.154C>A	11.37:g.4389372G>T	ENSP00000386160:p.Leu52Ile						p.L52I	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	154	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	52			Cytoplasmic (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.154C>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.940080	0.02322	.	.	ENSG00000221996	ENST00000408920	T	0.03065	4.06	4.63	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.956637	0.08643	N	0.915171	T	0.02083	0.0065	N	0.05383	-0.06	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.49082	-0.8976	10	0.19590	T	0.45	.	8.711	0.34385	0.0:0.33:0.3433:0.3268	.	52	Q8NGK2	O52B4_HUMAN	I	52	ENSP00000386160:L52I	ENSP00000386160:L52I	L	-	1	0	OR52B4	4345948	0.000000	0.05858	0.504000	0.27639	0.099000	0.18886	-1.694000	0.01915	0.146000	0.19002	0.650000	0.86243	CTC		PASS	0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		20	25	20	25	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371668	55371668	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:55371668A>G	ENST00000302231.4	-	1	206	c.182T>C	c.(181-183)cTa>cCa	p.L61P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L61P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAAATAAAATAGAAAGAAGTA	0.388																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CTA>CCA		olfactory receptor, family 4, subfamily C,							76.0	73.0	74.0					11																	55371668		2178	3996	6174	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371668A>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.182T>C	11.37:g.55371668A>G	ENSP00000306651:p.Leu61Pro						p.L61P	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	182	-			61			Helical; Name=2; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.182T>C	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	5.099	0.203873	0.09704	.	.	ENSG00000172188	ENST00000302231	T	0.14893	2.47	4.34	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.58438	0.2122	H	0.99732	4.735	0.18873	N	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.60561	-0.7239	10	0.87932	D	0	.	8.1004	0.30854	0.9006:0.0:0.0994:0.0	.	61	Q6IEV9	OR4CB_HUMAN	P	61	ENSP00000306651:L61P	ENSP00000306651:L61P	L	-	2	0	OR4C11	55128244	1.000000	0.71417	0.011000	0.14972	0.025000	0.11179	7.628000	0.83189	0.814000	0.34374	0.391000	0.25812	CTA		PASS	0.388	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		58	62	58	62	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432931	55432931	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:55432931A>G	ENST00000314259.3	+	1	318	c.289A>G	c.(289-291)Acc>Gcc	p.T97A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T97A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGGCTGCCTCACCCAGCTGTT	0.527																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(289-291)ACC>GCC		olfactory receptor, family 4, subfamily C,							126.0	115.0	119.0					11																	55432931		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432931A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.289A>G	11.37:g.55432931A>G	ENSP00000324769:p.Thr97Ala					OR4C6_uc010rik.1_Missense_Mutation_p.T97A	p.T97A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	554	+			97			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.289A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	1.501	-0.552067	0.03996	.	.	ENSG00000181903	ENST00000314259	T	0.02944	4.1	3.83	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.650048	0.12642	N	0.451174	T	0.02304	0.0071	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.48410	-0.9038	10	0.25751	T	0.34	.	6.6681	0.23054	0.7871:0.0:0.2129:0.0	.	97	Q8NH72	OR4C6_HUMAN	A	97	ENSP00000324769:T97A	ENSP00000324769:T97A	T	+	1	0	OR4C6	55189507	0.000000	0.05858	0.981000	0.43875	0.068000	0.16541	-3.384000	0.00489	0.383000	0.24910	0.444000	0.29173	ACC		PASS	0.527	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		30	115	30	115	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57080646	57080646	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:57080646C>A	ENST00000532437.1	-	4	1827	c.1516G>T	c.(1516-1518)Gcc>Tcc	p.A506S	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A506S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	506	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A506S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCGGCGGCCTCACTGGCT	0.657																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1516-1518)GCC>TCC		tankyrase 1-binding protein 1							22.0	23.0	23.0					11																	57080646		2021	4046	6067	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080646C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1516G>T	11.37:g.57080646C>A	ENSP00000437271:p.Ala506Ser					TNKS1BP1_uc001njs.2_Missense_Mutation_p.A506S|TNKS1BP1_uc009ymd.1_5'UTR	p.A506S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	1828	-		all_epithelial(135;0.21)	506			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1516G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394339	0.62066	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30448	1.53;1.53	3.15	3.15	0.36227	.	0.211940	0.23764	N	0.044786	T	0.28167	0.0695	N	0.17082	0.46	0.25194	N	0.990106	D	0.76494	0.999	D	0.79108	0.992	T	0.23583	-1.0184	10	0.13108	T	0.6	-2.523	4.0281	0.09697	0.2354:0.6408:0.0:0.1238	.	506	Q9C0C2	TB182_HUMAN	S	506	ENSP00000350990:A506S;ENSP00000437271:A506S	ENSP00000350990:A506S	A	-	1	0	TNKS1BP1	56837222	0.493000	0.26035	0.880000	0.34516	0.451000	0.32288	0.253000	0.18296	2.081000	0.62600	0.462000	0.41574	GCC		PASS	0.657	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	22	5	22	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57080648	57080648	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:57080648T>A	ENST00000532437.1	-	4	1825	c.1514A>T	c.(1513-1515)gAg>gTg	p.E505V	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E505V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	505	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.E505V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCGGCGGCCTCACTGGCTTC	0.647																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1513-1515)GAG>GTG		tankyrase 1-binding protein 1							21.0	23.0	22.0					11																	57080648		2015	4023	6038	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080648T>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1514A>T	11.37:g.57080648T>A	ENSP00000437271:p.Glu505Val					TNKS1BP1_uc001njs.2_Missense_Mutation_p.E505V|TNKS1BP1_uc009ymd.1_5'UTR	p.E505V	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	1826	-		all_epithelial(135;0.21)	505			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1514A>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831008	0.91036	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38560	1.13;1.13	4.01	4.01	0.46588	.	0.387436	0.18720	N	0.133058	T	0.47820	0.1466	L	0.27053	0.805	0.34396	D	0.694741	D	0.71674	0.998	D	0.66351	0.943	T	0.61466	-0.7057	10	0.72032	D	0.01	-8.6758	11.3033	0.49320	0.0:0.0:0.0:1.0	.	505	Q9C0C2	TB182_HUMAN	V	505	ENSP00000350990:E505V;ENSP00000437271:E505V	ENSP00000350990:E505V	E	-	2	0	TNKS1BP1	56837224	0.961000	0.32948	0.875000	0.34327	0.497000	0.33675	2.978000	0.49305	1.691000	0.51100	0.379000	0.24179	GAG		PASS	0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	19	5	19	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62595044	62595044	+	Silent	SNP	G	G	A	rs149057421	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:62595044G>A	ENST00000294179.3	-	3	438	c.285C>T	c.(283-285)acC>acT	p.T95T	STX5_ENST00000394690.1_Silent_p.T41T|STX5_ENST00000377897.4_Silent_p.T95T|STX5_ENST00000541317.1_5'UTR	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	95					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.T95T(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGGCCATGAGGGTGAATTCAC	0.483																																						uc001nvh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(283-285)ACC>ACT		syntaxin 5							132.0	119.0	123.0					11																	62595044		2201	4299	6500	SO:0001819	synonymous_variant	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62595044G>A	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.285C>T	11.37:g.62595044G>A						STX5_uc010rmi.1_5'UTR|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Silent_p.T41T|STX5_uc010rmj.1_Silent_p.T95T|STX5_uc001nvj.2_Intron	p.T95T	NM_003164	NP_003155	Q13190	STX5_HUMAN			3	439	-			95			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Silent	SNP	ENST00000294179.3	37	c.285C>T	CCDS8038.2																																																																																				PASS	0.483	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		41	44	41	44	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121008472	121008472	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:121008472G>T	ENST00000392793.1	+	11	3555	c.3284G>T	c.(3283-3285)cGc>cTc	p.R1095L	TECTA_ENST00000264037.2_Missense_Mutation_p.R1095L			O75443	TECTA_HUMAN	tectorin alpha	1095					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R1095L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCAAGCCCGCACCGACGCC	0.577																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(3283-3285)CGC>CTC		tectorin alpha precursor							119.0	90.0	100.0					11																	121008472		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008472G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3284G>T	11.37:g.121008472G>T	ENSP00000376543:p.Arg1095Leu						p.R1095L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3284	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1095						Missense_Mutation	SNP	ENST00000392793.1	37	c.3284G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041342	0.75732	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36878	1.23;1.23	5.23	5.23	0.72850	von Willebrand factor, type D domain (1);	0.056965	0.64402	D	0.000001	T	0.46483	0.1395	L	0.39898	1.24	0.40144	D	0.976864	D	0.69078	0.997	P	0.57204	0.815	T	0.26985	-1.0087	10	0.27785	T	0.31	.	18.8226	0.92103	0.0:0.0:1.0:0.0	.	1095	O75443	TECTA_HUMAN	L	1095	ENSP00000376543:R1095L;ENSP00000264037:R1095L	ENSP00000264037:R1095L	R	+	2	0	TECTA	120513682	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.566000	0.73978	2.430000	0.82344	0.655000	0.94253	CGC		PASS	0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		20	30	20	30	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125267941	125267941	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:125267941A>G	ENST00000298282.9	+	7	842	c.571A>G	c.(571-573)Atc>Gtc	p.I191V	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.I127V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	191					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.I191V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGCCCTCCATCAACCTTCA	0.572																																						uc001qbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(571-573)ATC>GTC		PBX/knotted 1 homeobox 2							68.0	73.0	71.0					11																	125267941		1934	4127	6061	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267941A>G	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.571A>G	11.37:g.125267941A>G	ENSP00000298282:p.Ile191Val					PKNOX2_uc010saz.1_Missense_Mutation_p.I162V|PKNOX2_uc010sba.1_Missense_Mutation_p.I162V|PKNOX2_uc010sbb.1_Missense_Mutation_p.I127V	p.I191V	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	885	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	191					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.571A>G	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157182	0.38119	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.77	5.52	5.52	0.82312	.	0.176947	0.49916	D	0.000130	T	0.70298	0.3208	N	0.12182	0.205	0.45307	D	0.998304	B;B	0.10296	0.0;0.003	B;B	0.10450	0.0;0.005	T	0.65026	-0.6268	10	0.22109	T	0.4	-7.3538	15.9907	0.80202	1.0:0.0:0.0:0.0	.	127;191	F5GZ15;Q96KN3	.;PKNX2_HUMAN	V	162;162;191;127;179	ENSP00000434732:I162V;ENSP00000433971:I162V;ENSP00000298282:I191V;ENSP00000441470:I127V	ENSP00000298282:I191V	I	+	1	0	PKNOX2	124773151	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.499000	0.45372	2.237000	0.73441	0.524000	0.50904	ATC		PASS	0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			59	47	59	47	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	441100	441100	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:441100T>C	ENST00000399788.2	-	13	2020	c.1658A>G	c.(1657-1659)tAc>tGc	p.Y553C	KDM5A_ENST00000382815.4_Missense_Mutation_p.Y553C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	553	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Y553C(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATTGGTCCTGTACACCTAAAT	0.373			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1657-1659)TAC>TGC		retinoblastoma binding protein 2 isoform 1							55.0	56.0	56.0					12																	441100		2069	4228	6297	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:441100T>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1658A>G	12.37:g.441100T>C	ENSP00000382688:p.Tyr553Cys					KDM5A_uc001qie.1_Missense_Mutation_p.Y553C|KDM5A_uc010sdn.1_Missense_Mutation_p.Y512C|KDM5A_uc010sdo.1_Missense_Mutation_p.Y172C	p.Y553C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			13	2021	-			553			JmjC.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.1658A>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311627	0.40895	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.73258	-0.73;-0.73;-0.73	5.63	4.44	0.53790	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.124087	0.56097	D	0.000029	T	0.73434	0.3586	L	0.49778	1.585	0.48236	D	0.999613	D;B;B;P	0.56287	0.975;0.128;0.014;0.659	P;B;B;P	0.53988	0.739;0.181;0.064;0.669	T	0.76694	-0.2865	10	0.87932	D	0	-2.6964	11.6503	0.51284	0.1933:0.0:0.0:0.8067	.	172;553;553;553	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	C	172;512;553;553;172	ENSP00000382688:Y553C;ENSP00000372265:Y553C;ENSP00000440622:Y172C	ENSP00000261253:Y172C	Y	-	2	0	KDM5A	311361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	2.151000	0.67156	0.528000	0.53228	TAC		PASS	0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		27	46	27	46	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22659657	22659657	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:22659657T>A	ENST00000333957.4	-	10	1390	c.1135A>T	c.(1135-1137)Atc>Ttc	p.I379F	C2CD5_ENST00000544930.1_Missense_Mutation_p.I172F|C2CD5_ENST00000542676.1_Missense_Mutation_p.I379F|C2CD5_ENST00000536386.1_Missense_Mutation_p.I381F|C2CD5_ENST00000446597.1_Missense_Mutation_p.I379F|C2CD5_ENST00000545552.1_Missense_Mutation_p.I370F|C2CD5_ENST00000396028.2_Missense_Mutation_p.I370F	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	379					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.I172F(1)|p.I379F(1)									GGATTGTGGATACGATCCAAA	0.338																																						uc001rfq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1135-1137)ATC>TTC		hypothetical protein LOC9847							120.0	124.0	122.0					12																	22659657		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22659657T>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1135A>T	12.37:g.22659657T>A	ENSP00000334229:p.Ile379Phe					KIAA0528_uc010sir.1_Missense_Mutation_p.I172F|KIAA0528_uc010sis.1_Missense_Mutation_p.I379F|KIAA0528_uc010sit.1_Missense_Mutation_p.I381F|KIAA0528_uc010siu.1_Missense_Mutation_p.I379F|KIAA0528_uc001rfr.2_Missense_Mutation_p.I370F|KIAA0528_uc009ziy.1_Missense_Mutation_p.I381F	p.I379F	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			10	1363	-			379					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1135A>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.722572|4.722572	0.89298|0.89298	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.59502|.	0.26;0.26;0.26;0.26;0.26;0.26;0.26|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.055575|.	0.64402|.	D|.	0.000001|.	T|T	0.74733|0.74733	0.3755|0.3755	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.998;0.999;1.0;0.999|.	D;D;D;D;D;D|.	0.91635|.	0.988;0.999;0.968;0.981;0.997;0.997|.	T|T	0.75551|0.75551	-0.3278|-0.3278	10|5	0.72032|.	D|.	0.01|.	-15.4903|-15.4903	15.4621|15.4621	0.75366|0.75366	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	381;379;172;381;370;379|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	F|F	379;379;381;370;379;370;172|54	ENSP00000334229:I379F;ENSP00000388756:I379F;ENSP00000439392:I381F;ENSP00000379345:I370F;ENSP00000441951:I379F;ENSP00000443204:I370F;ENSP00000445288:I172F|.	ENSP00000334229:I379F|.	I|Y	-|-	1|2	0|0	KIAA0528|KIAA0528	22550924|22550924	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.910000|0.910000	0.53928|0.53928	7.526000|7.526000	0.81920|0.81920	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	ATC|TAT		PASS	0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		60	112	60	112	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22676435	22676435	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:22676435G>A	ENST00000333957.4	-	7	980	c.725C>T	c.(724-726)gCg>gTg	p.A242V	C2CD5_ENST00000544930.1_Missense_Mutation_p.A44V|C2CD5_ENST00000542676.1_Missense_Mutation_p.A242V|C2CD5_ENST00000536386.1_Missense_Mutation_p.A242V|C2CD5_ENST00000446597.1_Missense_Mutation_p.A242V|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000545552.1_Missense_Mutation_p.A242V|C2CD5_ENST00000396028.2_Missense_Mutation_p.A242V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	242					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.A44V(1)|p.A242V(1)									CAGAGTACACGCCGTTCCTAT	0.438																																						uc001rfq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(724-726)GCG>GTG		hypothetical protein LOC9847							131.0	120.0	124.0					12																	22676435		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22676435G>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.725C>T	12.37:g.22676435G>A	ENSP00000334229:p.Ala242Val					KIAA0528_uc010sir.1_Missense_Mutation_p.A44V|KIAA0528_uc010sis.1_Missense_Mutation_p.A242V|KIAA0528_uc010sit.1_Missense_Mutation_p.A242V|KIAA0528_uc010siu.1_Missense_Mutation_p.A242V|KIAA0528_uc001rfr.2_Missense_Mutation_p.A242V|KIAA0528_uc009ziy.1_Missense_Mutation_p.A242V	p.A242V	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			7	953	-			242					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.725C>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466897	0.96257	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D;P	0.76494	0.991;0.985;0.988;0.985;0.999;0.947	P;P;P;P;D;P	0.66196	0.767;0.681;0.841;0.59;0.942;0.681	T	0.59883	-0.7370	10	0.40728	T	0.16	-13.1666	18.8083	0.92047	0.0:0.0:1.0:0.0	.	242;242;44;242;242;242	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	V	242;242;242;242;242;242;44;41	ENSP00000334229:A242V;ENSP00000388756:A242V;ENSP00000439392:A242V;ENSP00000379345:A242V;ENSP00000441951:A242V;ENSP00000443204:A242V;ENSP00000445288:A44V;ENSP00000443479:A41V	ENSP00000334229:A242V	A	-	2	0	KIAA0528	22567702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.693000	0.74582	2.426000	0.82243	0.591000	0.81541	GCG		PASS	0.438	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		13	60	13	60	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57437912	57437912	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:57437912G>C	ENST00000442789.2	-	10	1009	c.722C>G	c.(721-723)gCc>gGc	p.A241G	MYO1A_ENST00000544473.1_Missense_Mutation_p.A79G|MYO1A_ENST00000300119.3_Missense_Mutation_p.A241G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	241	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A241G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAAGCTGGAGGCGTCGTCCAT	0.572																																						uc001smw.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(721-723)GCC>GGC		myosin IA							106.0	95.0	99.0					12																	57437912		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57437912G>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.722C>G	12.37:g.57437912G>C	ENSP00000393392:p.Ala241Gly					MYO1A_uc010sqz.1_Missense_Mutation_p.A79G|MYO1A_uc009zpd.2_Missense_Mutation_p.A241G	p.A241G	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			9	965	-			241			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.722C>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723620	0.68959	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88896	-2.44;-2.44;-2.44	4.81	3.91	0.45181	Myosin head, motor domain (2);	0.184440	0.46758	D	0.000265	D	0.85057	0.5610	L	0.53780	1.695	0.43814	D	0.996378	B	0.31655	0.334	B	0.31442	0.13	T	0.83172	-0.0093	10	0.45353	T	0.12	.	10.5441	0.45050	0.0:0.0:0.807:0.193	.	241	Q9UBC5	MYO1A_HUMAN	G	241;241;79	ENSP00000300119:A241G;ENSP00000393392:A241G;ENSP00000440514:A79G	ENSP00000300119:A241G	A	-	2	0	MYO1A	55724179	0.991000	0.36638	0.538000	0.28064	0.761000	0.43186	3.320000	0.51991	1.365000	0.46057	0.563000	0.77884	GCC		PASS	0.572	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		41	42	41	42	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78510561	78510561	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:78510561C>T	ENST00000397909.2	+	13	2819	c.2646C>T	c.(2644-2646)gaC>gaT	p.D882D	NAV3_ENST00000536525.2_Silent_p.D882D|NAV3_ENST00000266692.7_Silent_p.D882D|NAV3_ENST00000228327.6_Silent_p.D882D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	882						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D882D(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTGGGATGACAGCAGTTCAG	0.453										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2644-2646)GAC>GAT		neuron navigator 3							130.0	122.0	125.0					12																	78510561		2080	4245	6325	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510561C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2646C>T	12.37:g.78510561C>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.D882D|NAV3_uc010sub.1_Silent_p.D382D|NAV3_uc009zsf.2_5'Flank	p.D882D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			13	2819	+			882					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.2646C>T																																																																																					PASS	0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		42	51	42	51	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86198647	86198647	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:86198647T>C	ENST00000361228.3	-	2	1509	c.1141A>G	c.(1141-1143)Aga>Gga	p.R381G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	381					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.R381G(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTTCGCTCTGTTTTCCTTT	0.423																																						uc001taf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1141-1143)AGA>GGA		Ras association (RalGDS/AF-6) domain family							180.0	175.0	177.0					12																	86198647		1900	4134	6034	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198647T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1141A>G	12.37:g.86198647T>C	ENSP00000354884:p.Arg381Gly						p.R381G	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1480	-			381					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1141A>G	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	0.236	-1.017175	0.02078	.	.	ENSG00000198774	ENST00000361228	T	0.45276	0.9	5.29	-0.333	0.12671	.	1.101050	0.06924	U	0.809895	T	0.35941	0.0949	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32798	-0.9893	10	0.21540	T	0.41	-2.7014	11.7276	0.51718	0.0:0.072:0.6357:0.2923	.	381	O75901	RASF9_HUMAN	G	381	ENSP00000354884:R381G	ENSP00000354884:R381G	R	-	1	2	RASSF9	84722778	0.000000	0.05858	0.105000	0.21289	0.169000	0.22640	0.468000	0.22051	-0.210000	0.10140	0.528000	0.53228	AGA		PASS	0.423	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			120	127	120	127	---	---	---	---
KCTD10	83892	broad.mit.edu	37	12	109894110	109894110	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr12:109894110T>C	ENST00000228495.6	-	6	817	c.536A>G	c.(535-537)gAc>gGc	p.D179G	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000540411.1_Intron|KCTD10_ENST00000424763.2_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	179					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.D179G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CATATTGTCGTCAGAATTGCT	0.453																																						uc001toi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GAC>GGC		potassium channel tetramerisation domain							101.0	92.0	95.0					12																	109894110		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109894110T>C	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.536A>G	12.37:g.109894110T>C	ENSP00000228495:p.Asp179Gly					KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Intron|KCTD10_uc001toj.1_Missense_Mutation_p.D188G|KCTD10_uc001tok.1_5'UTR	p.D179G	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN			6	624	-			179					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.536A>G	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.1|24.1	4.496116|4.496116	0.85069|0.85069	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000545759;ENST00000542262;ENST00000542858|ENST00000538161	T;T;T|.	0.53640|.	0.75;0.67;0.61|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77624|0.77624	0.4158|0.4158	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.80763|0.80763	-0.1237|-0.1237	10|5	0.72032|.	D|.	0.01|.	-32.3961|-32.3961	13.7056|13.7056	0.62636|0.62636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	179|.	Q9H3F6|.	BACD3_HUMAN|.	G|A	179;21;150;169|145	ENSP00000228495:D179G;ENSP00000437348:D150G;ENSP00000445129:D169G|.	ENSP00000228495:D179G|.	D|T	-|-	2|1	0|0	KCTD10|KCTD10	108378493|108378493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.868000|7.868000	0.87116|0.87116	2.090000|2.090000	0.63153|0.63153	0.459000|0.459000	0.35465|0.35465	GAC|ACG		PASS	0.453	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		20	74	20	74	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32841387	32841387	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr13:32841387C>A	ENST00000380250.3	+	55	8523	c.8027C>A	c.(8026-8028)gCc>gAc	p.A2676D	FRY_ENST00000542859.1_Missense_Mutation_p.A46D	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2676						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A2676D(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGCCCGCAGCCTGTGACGAT	0.557																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(8026-8028)GCC>GAC		furry homolog							99.0	107.0	105.0					13																	32841387		2065	4202	6267	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841387C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8027C>A	13.37:g.32841387C>A	ENSP00000369600:p.Ala2676Asp					FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.A231D|FRY_uc001utz.2_Missense_Mutation_p.A201D|FRY_uc010tdx.1_Missense_Mutation_p.A46D	p.A2676D	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8523	+		Lung SC(185;0.0271)	2676					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8027C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569679	0.65765	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.25085	1.82	5.52	5.52	0.82312	.	0.199783	0.45606	D	0.000346	T	0.28101	0.0693	M	0.61703	1.905	0.38263	D	0.94194	B;B	0.25850	0.037;0.136	B;B	0.22601	0.031;0.04	T	0.11842	-1.0571	10	0.56958	D	0.05	.	12.7384	0.57238	0.0:0.9249:0.0:0.0751	.	457;2676	Q8NB82;Q5TBA9	.;FRY_HUMAN	D	2676;320;46	ENSP00000369600:A2676D	ENSP00000369567:A320D	A	+	2	0	FRY	31739387	1.000000	0.71417	0.994000	0.49952	0.631000	0.37964	4.451000	0.60047	2.600000	0.87896	0.650000	0.86243	GCC		PASS	0.557	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		34	134	34	134	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52535998	52535998	+	Silent	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr13:52535998A>G	ENST00000242839.4	-	6	2077	c.1921T>C	c.(1921-1923)Ttg>Ctg	p.L641L	ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Silent_p.L530L|ATP7B_ENST00000448424.2_Silent_p.L641L|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000418097.2_Silent_p.L641L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	641			L -> S (in WD; dbSNP:rs186924074). {ECO:0000269|PubMed:15967699, ECO:0000269|PubMed:16088907}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.L641L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTGTGGTCCAAGTGATGAGCG	0.478									Wilson disease																													uc001vfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1921-1923)TTG>CTG		ATPase, Cu++ transporting, beta polypeptide							205.0	198.0	200.0					13																	52535998		1905	4111	6016	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52535998A>G	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1921T>C	13.37:g.52535998A>G						ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.L530L|ATP7B_uc010tgt.1_Silent_p.L641L|ATP7B_uc010tgu.1_Silent_p.L641L|ATP7B_uc010tgv.1_Silent_p.L641L|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_5'UTR|ATP7B_uc010tgw.1_Intron	p.L641L	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	6	2078	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	641		L -> S (in WD).	Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1921T>C	CCDS41892.1																																																																																				PASS	0.478	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		101	68	101	68	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113526056	113526056	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr13:113526056G>A	ENST00000487903.1	+	26	3087	c.2999G>A	c.(2998-3000)gGa>gAa	p.G1000E	ATP11A_ENST00000375645.3_Missense_Mutation_p.G1000E|ATP11A_ENST00000283558.8_Missense_Mutation_p.G1000E|ATP11A_ENST00000375630.2_Missense_Mutation_p.G1000E			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1000					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1000E(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGATATTTGGAAACTGGACG	0.408																																						uc001vsi.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(2998-3000)GGA>GAA		ATPase, class VI, type 11A isoform a							154.0	155.0	155.0					13																	113526056		2203	4300	6503	SO:0001583	missense	23250				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.chr13:113526056G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2999G>A	13.37:g.113526056G>A	ENSP00000420387:p.Gly1000Glu					ATP11A_uc001vsj.3_Missense_Mutation_p.G1000E|ATP11A_uc010ago.2_RNA	p.G1000E	NM_015205	NP_056020	P98196	AT11A_HUMAN			26	3087	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1000			Extracellular (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2999G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666489	0.67814	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.15	4.15	0.48705	.	0.057363	0.64402	D	0.000002	T	0.48786	0.1519	M	0.80616	2.505	0.80722	D	1	P;P	0.46706	0.883;0.756	P;B	0.45856	0.495;0.391	T	0.61053	-0.7140	10	0.59425	D	0.04	.	16.8014	0.85615	0.0:0.0:1.0:0.0	.	1000;1000	E9PEJ6;P98196	.;AT11A_HUMAN	E	1000	ENSP00000420387:G1000E;ENSP00000364781:G1000E;ENSP00000364796:G1000E;ENSP00000283558:G1000E	ENSP00000283558:G1000E	G	+	2	0	ATP11A	112574057	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	8.935000	0.92923	2.002000	0.58637	0.462000	0.41574	GGA		PASS	0.408	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		55	847	55	847	---	---	---	---
POLE2	5427	broad.mit.edu	37	14	50117145	50117145	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr14:50117145G>C	ENST00000216367.5	-	17	1434	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	POLE2_ENST00000554396.1_Missense_Mutation_p.I445M|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Missense_Mutation_p.I419M	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTGGGATAAGATAGTCTTTA	0.358																																						uc001wwu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1333-1335)ATC>ATG		DNA-directed DNA polymerase epsilon 2							111.0	108.0	109.0					14																	50117145		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117145G>C	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1335C>G	14.37:g.50117145G>C	ENSP00000216367:p.Ile445Met					SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.I159M|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.I160M	p.I445M	NM_002692	NP_002683	P56282	DPOE2_HUMAN			17	1349	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		445					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1335C>G	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578567	0.46006	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.38887	1.11;1.11;1.11	5.88	-2.08	0.07254	DNA polymerase alpha/epsilon, subunit B (1);	0.461581	0.26133	N	0.026148	T	0.46698	0.1406	M	0.71206	2.165	0.24328	N	0.995019	P;P;P	0.41546	0.754;0.563;0.563	P;P;P	0.54629	0.757;0.502;0.502	T	0.40440	-0.9563	10	0.56958	D	0.05	-1.5964	1.9754	0.03415	0.4071:0.1001:0.3152:0.1776	.	445;419;445	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	M	445;419;445	ENSP00000216367:I445M;ENSP00000446313:I419M;ENSP00000451621:I445M	ENSP00000216367:I445M	I	-	3	3	POLE2	49186895	0.992000	0.36948	0.124000	0.21820	0.986000	0.74619	0.254000	0.18314	-0.102000	0.12197	-0.157000	0.13467	ATC		PASS	0.358	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		24	61	24	61	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64465690	64465690	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr14:64465690A>G	ENST00000344113.4	+	27	3624	c.3412A>G	c.(3412-3414)Act>Gct	p.T1138A	SYNE2_ENST00000554584.1_Missense_Mutation_p.T1138A|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.T1138A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1138					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T1138A(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCAGGATTACTTCTGATTT	0.338																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3412-3414)ACT>GCT		spectrin repeat containing, nuclear envelope 2							121.0	115.0	117.0					14																	64465690		1857	4120	5977	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64465690A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3412A>G	14.37:g.64465690A>G	ENSP00000341781:p.Thr1138Ala					SYNE2_uc001xgl.2_Missense_Mutation_p.T1138A	p.T1138A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	27	3642	+			1138			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3412A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	3.068	-0.191737	0.06299	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56275	0.83;0.83;0.47	5.32	-0.103	0.13609	.	0.825342	0.10588	N	0.657130	T	0.31544	0.0800	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.14805	0.006;0.011	B;B	0.13407	0.004;0.009	T	0.18147	-1.0346	10	0.23302	T	0.38	.	1.1092	0.01700	0.2999:0.3808:0.1343:0.185	.	1138;1138	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	A	1138	ENSP00000350719:T1138A;ENSP00000341781:T1138A;ENSP00000452570:T1138A	ENSP00000261678:T1138A	T	+	1	0	SYNE2	63535443	0.248000	0.23930	0.041000	0.18516	0.190000	0.23558	1.060000	0.30530	0.365000	0.24400	0.533000	0.62120	ACT		PASS	0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		63	64	63	64	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102910044	102910044	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr14:102910044C>T	ENST00000359520.7	+	12	3039	c.2813C>T	c.(2812-2814)tCc>tTc	p.S938F	TECPR2_ENST00000558678.1_Missense_Mutation_p.S938F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	938					autophagy (GO:0006914)|cell death (GO:0008219)			p.S938F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TACCCGCTGTCCCAGATCACA	0.622																																						uc001ylw.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(2812-2814)TCC>TTC		tectonin beta-propeller repeat containing 2							88.0	67.0	74.0					14																	102910044		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102910044C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2813C>T	14.37:g.102910044C>T	ENSP00000352510:p.Ser938Phe					TECPR2_uc010awl.2_Missense_Mutation_p.S938F|TECPR2_uc010txx.1_Missense_Mutation_p.S101F	p.S938F	NM_014844	NP_055659	O15040	TCPR2_HUMAN			12	2961	+			938					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2813C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622396	0.87460	.	.	ENSG00000196663	ENST00000359520	T	0.80480	-1.38	5.61	5.61	0.85477	.	0.466841	0.24220	N	0.040449	D	0.82737	0.5102	L	0.27053	0.805	0.42256	D	0.991994	P;P;P	0.52170	0.916;0.916;0.951	P;P;P	0.57548	0.506;0.698;0.823	D	0.83805	0.0238	10	0.56958	D	0.05	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	121;938;938	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	F	938	ENSP00000352510:S938F	ENSP00000352510:S938F	S	+	2	0	TECPR2	101979797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.992000	0.63889	2.793000	0.96121	0.655000	0.94253	TCC		PASS	0.622	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		47	71	47	71	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48527109	48527109	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr15:48527109A>T	ENST00000558405.1	+	8	1137	c.1123A>T	c.(1123-1125)Aca>Tca	p.T375S	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T375S|SLC12A1_ENST00000330289.6_Missense_Mutation_p.T375S|SLC12A1_ENST00000396577.3_Missense_Mutation_p.T375S			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	375					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.T375S(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCCACGCTTCACAAAGGGTGA	0.398																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1123-1125)ACA>TCA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						102.0	104.0	103.0					15																	48527109		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48527109A>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1123A>T	15.37:g.48527109A>T	ENSP00000453409:p.Thr375Ser					SLC12A1_uc010uew.1_Missense_Mutation_p.T181S|SLC12A1_uc010bem.2_Missense_Mutation_p.T375S|SLC12A1_uc010uex.1_Missense_Mutation_p.T375S|SLC12A1_uc001zwq.3_Missense_Mutation_p.T146S|SLC12A1_uc001zwr.3_Missense_Mutation_p.T102S	p.T375S	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	9	1339	+		all_lung(180;0.00219)	375					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1123A>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658892	0.47467	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98822	-5.16;-5.16;-5.16	5.06	5.06	0.68205	Amino acid permease domain (1);	0.053358	0.64402	D	0.000001	D	0.96005	0.8699	N	0.13327	0.33	0.35074	D	0.762782	B;B;B	0.20459	0.045;0.005;0.005	B;B;B	0.29077	0.098;0.032;0.026	D	0.96542	0.9401	10	0.87932	D	0	.	15.1141	0.72388	1.0:0.0:0.0:0.0	.	375;375;375	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	S	188;375;375;375	ENSP00000370381:T375S;ENSP00000379822:T375S;ENSP00000331550:T375S	ENSP00000331550:T375S	T	+	1	0	SLC12A1	46314401	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.790000	0.38734	2.032000	0.59987	0.383000	0.25322	ACA		PASS	0.398	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			64	57	64	57	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70344823	70344823	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr15:70344823G>T	ENST00000558939.1	-	18	3401	c.2024C>A	c.(2023-2025)gCt>gAt	p.A675D	TLE3_ENST00000442299.2_Missense_Mutation_p.A667D|TLE3_ENST00000559191.1_Missense_Mutation_p.A256D|TLE3_ENST00000557907.1_Missense_Mutation_p.A667D|TLE3_ENST00000558379.1_Missense_Mutation_p.A670D|TLE3_ENST00000539550.1_Missense_Mutation_p.A602D|TLE3_ENST00000557997.1_Missense_Mutation_p.A667D|TLE3_ENST00000317509.8_Missense_Mutation_p.A663D|TLE3_ENST00000451782.2_Missense_Mutation_p.A672D|TLE3_ENST00000559048.1_Missense_Mutation_p.A675D|TLE3_ENST00000560589.1_Missense_Mutation_p.A619D|TLE3_ENST00000560939.1_Missense_Mutation_p.A677D|TLE3_ENST00000558201.1_Missense_Mutation_p.A681D|TLE3_ENST00000440567.3_Missense_Mutation_p.A665D|TLE3_ENST00000559929.1_Missense_Mutation_p.A685D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	675					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A675D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATGCCCACAGCCAGCCACTC	0.617																																						uc002asm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(2023-2025)GCT>GAT		transducin-like enhancer protein 3 isoform a							48.0	35.0	40.0					15																	70344823		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70344823G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.2024C>A	15.37:g.70344823G>T	ENSP00000452871:p.Ala675Asp					TLE3_uc002ask.2_Missense_Mutation_p.A602D|TLE3_uc002asl.2_Missense_Mutation_p.A675D|TLE3_uc010ukd.1_Missense_Mutation_p.A665D|TLE3_uc010bik.1_Missense_Mutation_p.A256D|TLE3_uc010bil.1_Missense_Mutation_p.A672D|TLE3_uc002asn.2_Missense_Mutation_p.A663D|TLE3_uc002asp.2_Missense_Mutation_p.A667D|TLE3_uc002aso.2_Missense_Mutation_p.A670D	p.A675D	NM_005078	NP_005069	Q04726	TLE3_HUMAN			18	3143	-			675			WD 5.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.2024C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270354	0.80469	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.114925	0.64402	D	0.000015	T	0.46908	0.1417	M	0.81942	2.565	0.80722	D	1	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	0.997;0.994;0.999;0.992;1.0;0.982;0.994;0.997	T	0.49224	-0.8962	10	0.87932	D	0	-18.7002	18.5138	0.90928	0.0:0.0:1.0:0.0	.	665;672;667;670;663;675;675;602	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	D	667;672;675;665;602	ENSP00000390007:A667D;ENSP00000394717:A672D;ENSP00000415057:A665D;ENSP00000442594:A602D	ENSP00000319233:A675D	A	-	2	0	TLE3	68131877	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.538000	0.98072	2.706000	0.92434	0.561000	0.74099	GCT		PASS	0.617	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		17	9	17	9	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79339153	79339153	+	Silent	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr15:79339153C>G	ENST00000419573.3	-	5	1087	c.813G>C	c.(811-813)cgG>cgC	p.R271R	RASGRF1_ENST00000558480.2_Silent_p.R271R|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	271	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R271R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGCGGCCATCCGCAGCGGGC	0.592																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(811-813)CGG>CGC		Ras protein-specific guanine							151.0	122.0	132.0					15																	79339153		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79339153C>G	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.813G>C	15.37:g.79339153C>G						RASGRF1_uc002bep.2_Silent_p.R271R|RASGRF1_uc010blm.1_Silent_p.R193R|RASGRF1_uc002ber.3_Silent_p.R271R	p.R271R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			5	1188	-			271			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.813G>C	CCDS10309.1																																																																																				PASS	0.592	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		81	65	81	65	---	---	---	---
RPS2	6187	broad.mit.edu	37	16	2012182	2012182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:2012182G>A	ENST00000343262.4	-	7	855	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	RPS2_ENST00000530225.1_3'UTR|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Nonsense_Mutation_p.Q209*|SNORA64_ENST00000384674.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	267					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q267*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGAACTCCTGATAGGGAGAC	0.512																																						uc002cnn.2																			2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)		0						c.(799-801)CAG>TAG		ribosomal protein S2							47.0	55.0	53.0					16																	2012182		2199	4298	6497	SO:0001587	stop_gained	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2012182G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.799C>T	16.37:g.2012182G>A	ENSP00000341885:p.Gln267*					RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Nonsense_Mutation_p.Q209*|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Nonsense_Mutation_p.Q267*|SNHG9_uc002cnr.2_5'Flank	p.Q267*	NM_002952	NP_002943	P15880	RS2_HUMAN			6	987	-			267					B2R5G0|D3DU82|Q3MIB1	Nonsense_Mutation	SNP	ENST00000343262.4	37	c.799C>T	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.002685	0.74932	.	.	ENSG00000140988	ENST00000526522;ENST00000533186;ENST00000343262	.	.	.	4.28	4.28	0.50868	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.8102	0.78557	0.0:0.0:1.0:0.0	.	.	.	.	X	209;169;267	.	ENSP00000341885:Q267X	Q	-	1	0	RPS2	1952183	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.431000	0.97494	1.978000	0.57642	0.603000	0.83216	CAG		PASS	0.512	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		39	75	39	75	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2142539	2142539	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:2142539C>T	ENST00000262304.4	-	39	11419	c.11211G>A	c.(11209-11211)ggG>ggA	p.G3737G	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Silent_p.G3736G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3737					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G3737G(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGACTGGTTCCCGTGGACGT	0.662																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(11209-11211)GGG>GGA		polycystin 1 isoform 1 precursor							32.0	35.0	34.0					16																	2142539		2196	4295	6491	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2142539C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11211G>A	16.37:g.2142539C>T						PKD1_uc002cot.1_Silent_p.G3736G|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	p.G3737G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			39	11420	-			3737			Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11211G>A	CCDS32369.1																																																																																				PASS	0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	20	14	20	---	---	---	---
PRSS22	64063	broad.mit.edu	37	16	2903228	2903228	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:2903228C>A	ENST00000161006.3	-	6	885	c.820G>T	c.(820-822)Gtc>Ttc	p.V274F	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Missense_Mutation_p.V164F	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V274F(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGATGTAGACCCCGGGCCTG	0.726																																						uc002cry.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(820-822)GTC>TTC		protease, serine, 22 precursor							20.0	22.0	21.0					16																	2903228		2190	4279	6469	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903228C>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.820G>T	16.37:g.2903228C>A	ENSP00000161006:p.Val274Phe					PRSS22_uc002crz.1_Missense_Mutation_p.V164F	p.V274F	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			6	886	-			274			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.820G>T	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	c	15.16	2.751566	0.49257	.	.	ENSG00000005001	ENST00000161006	D	0.90788	-2.73	4.05	3.09	0.35607	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41605	D	0.000845	D	0.95790	0.8630	M	0.93808	3.46	0.51233	D	0.999916	D	0.76494	0.999	D	0.87578	0.998	D	0.95197	0.8313	10	0.87932	D	0	.	9.5958	0.39573	0.0:0.8934:0.0:0.1066	.	274	Q9GZN4	BSSP4_HUMAN	F	274	ENSP00000161006:V274F	ENSP00000161006:V274F	V	-	1	0	PRSS22	2843229	0.999000	0.42202	0.943000	0.38184	0.484000	0.33280	4.253000	0.58791	0.825000	0.34637	0.456000	0.33151	GTC		PASS	0.726	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		19	65	19	65	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3641121	3641121	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:3641121C>G	ENST00000294008.3	-	12	3158	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	840	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.E840Q(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGATCTTCTTCGTGGTCCTTG	0.468								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2518-2520)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							165.0	169.0	167.0					16																	3641121		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641121C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2518G>C	16.37:g.3641121C>G	ENSP00000294008:p.Glu840Gln						p.E840Q	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3145	-			840			Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2518G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013083	0.54468	.	.	ENSG00000188827	ENST00000294008	T	0.01388	4.95	5.35	-2.32	0.06745	.	0.557270	0.18260	N	0.146666	T	0.01489	0.0048	L	0.61218	1.895	0.09310	N	1	P	0.34955	0.477	B	0.27262	0.078	T	0.40627	-0.9553	10	0.56958	D	0.05	.	6.1239	0.20167	0.0:0.3556:0.3392:0.3052	.	840	Q8IY92	SLX4_HUMAN	Q	840	ENSP00000294008:E840Q	ENSP00000294008:E840Q	E	-	1	0	SLX4	3581122	0.103000	0.21917	0.022000	0.16811	0.020000	0.10135	0.825000	0.27393	-0.300000	0.08895	-0.367000	0.07326	GAA		PASS	0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		81	177	81	177	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3795299	3795299	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:3795299T>C	ENST00000262367.5	-	22	4702	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1260C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1298	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y1298C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGATGTCATAGTGCAGAAC	0.537			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3892-3894)TAT>TGT		CREB binding protein isoform a							137.0	93.0	108.0					16																	3795299		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3795299T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3893A>G	16.37:g.3795299T>C	ENSP00000262367:p.Tyr1298Cys					CREBBP_uc002cvw.2_Missense_Mutation_p.Y1260C	p.Y1298C	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	22	4097	-		Ovarian(90;0.0266)	1298			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3893A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716880	0.48622	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.98889	-5.21;-5.21	5.41	5.41	0.78517	.	0.087258	0.49916	D	0.000123	D	0.97882	0.9304	L	0.53249	1.67	0.54753	D	0.999981	D;D	0.58620	0.983;0.983	P;P	0.52710	0.707;0.707	D	0.97177	0.9848	10	0.42905	T	0.14	-12.2649	10.9075	0.47088	0.1401:0.0:0.0:0.8599	.	1328;1298	Q4LE28;Q92793	.;CBP_HUMAN	C	1298;1328;1260	ENSP00000262367:Y1298C;ENSP00000371502:Y1260C	ENSP00000262367:Y1298C	Y	-	2	0	CREBBP	3735300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.674000	0.83992	2.186000	0.69663	0.533000	0.62120	TAT		PASS	0.537	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	56	15	56	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3820624	3820624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:3820624G>A	ENST00000262367.5	-	14	3636	c.2827C>T	c.(2827-2829)Cag>Tag	p.Q943*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q905*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	943					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q943*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGATGACTGAGGGGTAGCC	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127	GRCh37	CD021194	CREBBP	D		c.(2827-2829)CAG>TAG		CREB binding protein isoform a							88.0	111.0	103.0					16																	3820624		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820624G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2827C>T	16.37:g.3820624G>A	ENSP00000262367:p.Gln943*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q905*	p.Q943*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3031	-		Ovarian(90;0.0266)	943					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2827C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	49	15.293914	0.99829	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-15.4574	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	943;973;905	.	ENSP00000262367:Q943X	Q	-	1	0	CREBBP	3760625	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.976000	0.76135	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		96	129	96	129	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16146661	16146661	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:16146661C>T	ENST00000399410.3	+	11	1636	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	ABCC1_ENST00000351154.5_Silent_p.T487T|ABCC1_ENST00000399408.2_Silent_p.T487T|ABCC1_ENST00000345148.5_Silent_p.T487T|ABCC1_ENST00000349029.5_Silent_p.T487T|ABCC1_ENST00000346370.5_Silent_p.T487T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	487	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.T487T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CGATGAAGACCAAGACGTATC	0.572																																						uc010bvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1459-1461)ACC>ACT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						125.0	126.0	125.0					16																	16146661		2085	4202	6287	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16146661C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1461C>T	16.37:g.16146661C>T						ABCC1_uc010bvj.2_Silent_p.T487T|ABCC1_uc010bvk.2_Silent_p.T487T|ABCC1_uc010bvl.2_Silent_p.T487T|ABCC1_uc010bvm.2_Silent_p.T487T|ABCC1_uc002del.3_Silent_p.T371T|ABCC1_uc010bvn.2_Silent_p.T350T	p.T487T	NM_004996	NP_004987	P33527	MRP1_HUMAN			11	1636	+			487			Cytoplasmic.|ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.1461C>T	CCDS42122.1																																																																																				PASS	0.572	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		21	65	21	65	---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21279036	21279036	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:21279036T>A	ENST00000219599.3	-	7	777	c.512A>T	c.(511-513)aAa>aTa	p.K171I	CRYM_ENST00000415987.2_Missense_Mutation_p.K129I|CRYM_ENST00000543948.1_Missense_Mutation_p.K171I|CRYM_ENST00000396023.2_Missense_Mutation_p.K171I	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	171					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)	p.K171I(1)		large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TGCATTTTCTTTGGTGCGGTT	0.507																																						uc002dik.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)AAA>ATA		crystallin, mu isoform 1	Levothyroxine(DB00451)						167.0	148.0	154.0					16																	21279036		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21279036T>A		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.512A>T	16.37:g.21279036T>A	ENSP00000219599:p.Lys171Ile					CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K129I|CRYM_uc002dim.2_Missense_Mutation_p.K171I	p.K171I	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	5	597	-			171					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.512A>T	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907509	0.33721	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	-2.04	0.07343	NAD(P)-binding domain (1);	0.416849	0.29908	N	0.010881	T	0.64527	0.2606	L	0.36672	1.1	0.26446	N	0.975696	B	0.06786	0.001	B	0.20955	0.032	T	0.49597	-0.8923	10	0.27785	T	0.31	-2.8942	12.0638	0.53576	0.0:0.5117:0.0:0.4883	.	171	Q14894	CRYM_HUMAN	I	171;171;171;129	ENSP00000440227:K171I;ENSP00000219599:K171I;ENSP00000379341:K171I;ENSP00000390928:K129I	ENSP00000219599:K171I	K	-	2	0	CRYM	21186537	0.017000	0.18338	0.115000	0.21578	0.897000	0.52465	0.124000	0.15728	-0.738000	0.04817	-0.468000	0.05107	AAA		PASS	0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			52	92	52	92	---	---	---	---
ZNRF1	84937	broad.mit.edu	37	16	75146775	75146775	+	IGR	SNP	G	G	T	rs571838219		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr16:75146775G>T	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Silent_p.I378I|RP11-252E2.1_ENST00000499110.1_RNA|LDHD_ENST00000300051.4_Silent_p.I401I	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I401I(1)		breast(1)	1						TCTGCACCACGATCTCCGGCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18513	0.0		0.001	False		,,,				2504	0.0					uc002fdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1201-1203)ATC>ATA		D-lactate dehydrogenase isoform 1 precursor							46.0	37.0	40.0					16																	75146775		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146775G>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146775G>T						LDHD_uc002fdn.2_Silent_p.I378I	p.I401I	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			9	1250	-			401					D3DUJ9|Q9H083	Silent	SNP	ENST00000335325.4	37	c.1203C>A	CCDS10912.1																																																																																				PASS	0.617	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			20	24	20	24	---	---	---	---
ELP5	23587	broad.mit.edu	37	17	7160277	7160277	+	Missense_Mutation	SNP	G	G	A	rs3190365		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr17:7160277G>A	ENST00000396628.2	+	5	776	c.559G>A	c.(559-561)Gag>Aag	p.E187K	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.E187K|ELP5_ENST00000574993.1_Missense_Mutation_p.E187K|ELP5_ENST00000354429.2_Missense_Mutation_p.E187K|ELP5_ENST00000356683.2_Missense_Mutation_p.E187K	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	187					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)		p.E187K(2)									TGCTCAGACTGAGGTGACCCT	0.612																																						uc002gfg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(559-561)GAG>AAG		S-phase 2 protein isoform 4							53.0	47.0	49.0					17																	7160277		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7160277G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.559G>A	17.37:g.7160277G>A	ENSP00000379869:p.Glu187Lys					C17orf81_uc002gfj.2_Missense_Mutation_p.E187K|C17orf81_uc010cmb.2_Missense_Mutation_p.E187K|C17orf81_uc002gfh.1_Missense_Mutation_p.E187K|C17orf81_uc002gfi.1_Missense_Mutation_p.E187K|C17orf81_uc002gfl.1_Missense_Mutation_p.E187K	p.E187K	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			6	666	+			187					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.559G>A	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144190	0.21205	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.46819	1.51;1.51;1.51;0.86	5.32	4.34	0.51931	.	0.200296	0.43110	N	0.000601	T	0.43010	0.1228	M	0.64997	1.995	0.34689	D	0.725549	B;B;B	0.24618	0.087;0.107;0.06	B;B;B	0.26693	0.03;0.072;0.05	T	0.50783	-0.8787	10	0.20046	T	0.44	-8.2694	10.5707	0.45198	0.0912:0.0:0.9088:0.0	rs3190365	187;187;187	Q8TE02-2;A8K1M5;Q8TE02	.;.;DERP6_HUMAN	K	187	ENSP00000346412:E187K;ENSP00000379869:E187K;ENSP00000379868:E187K;ENSP00000349111:E187K	ENSP00000346412:E187K	E	+	1	0	C17orf81	7101001	0.992000	0.36948	0.510000	0.27712	0.502000	0.33828	2.784000	0.47774	1.378000	0.46305	0.655000	0.94253	GAG		PASS	0.612	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		30	17	30	17	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10401181	10401181	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr17:10401181T>A	ENST00000226207.5	-	31	4329	c.4235A>T	c.(4234-4236)aAt>aTt	p.N1412I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1412					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.N1412I(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						ACATTTGGCATTCACAGCTTC	0.483																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4234-4236)AAT>ATT		myosin, heavy chain 1, skeletal muscle, adult							109.0	98.0	102.0					17																	10401181		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401181T>A		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.4235A>T	17.37:g.10401181T>A	ENSP00000226207:p.Asn1412Ile					uc002gml.1_Intron	p.N1412I	NM_005963	NP_005954	P12882	MYH1_HUMAN			31	4329	-			1412			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4235A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221690	0.58560	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.78481	-1.18	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.46145	U	0.000306	D	0.82449	0.5039	M	0.89030	3	0.80722	D	1	B	0.15141	0.012	B	0.20577	0.03	T	0.81362	-0.0967	10	0.87932	D	0	.	16.1566	0.81673	0.0:0.0:0.0:1.0	.	1412	P12882	MYH1_HUMAN	I	1412;501	ENSP00000226207:N1412I	ENSP00000226207:N1412I	N	-	2	0	MYH1	10341906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.268000	0.75426	0.533000	0.62120	AAT		PASS	0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		54	46	54	46	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10427843	10427843	+	Silent	SNP	T	T	C	rs564312739		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr17:10427843T>C	ENST00000245503.5	-	35	5499	c.5115A>G	c.(5113-5115)agA>agG	p.R1705R	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.R1705R|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1705					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1705R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCGATTTTTCTGCTCCTCT	0.542													N|||	1	0.000199681	0.0	0.0014	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0					uc010coi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5113-5115)AGA>AGG		myosin heavy chain IIa																																				SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427843T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5115A>G	17.37:g.10427843T>C						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1705R|MYH2_uc010coj.2_Intron	p.R1705R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5243	-			1705			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5115A>G	CCDS11156.1																																																																																				PASS	0.542	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		72	82	72	82	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18149623	18149623	+	Splice_Site	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr17:18149623G>A	ENST00000327031.4	-	24	3430	c.3205C>T	c.(3205-3207)Cgg>Tgg	p.R1069W	FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Splice_Site_p.R983W|FLII_ENST00000579294.1_Splice_Site_p.R1058W|FLII_ENST00000545457.2_Splice_Site_p.R1014W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1069					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.R1069W(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCAGGCACCGGGTGCAGAGG	0.652																																						uc002gsr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3205-3207)CGG>TGG		flightless I homolog							76.0	77.0	77.0					17																	18149623		2203	4300	6503	SO:0001630	splice_region_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149623G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3206+1C>T	17.37:g.18149623G>A						FLII_uc002gsq.1_Missense_Mutation_p.R940W|FLII_uc010cpy.1_Missense_Mutation_p.R1058W|FLII_uc010vxn.1_Missense_Mutation_p.R1038W|FLII_uc010vxo.1_Missense_Mutation_p.R1014W	p.R1069W	NM_002018	NP_002009	Q13045	FLII_HUMAN			24	3256	-	all_neural(463;0.228)		1069			Gelsolin-like 4.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3205C>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208174	0.79240	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.22134	1.97;1.97	5.67	5.67	0.87782	.	0.048058	0.85682	D	0.000000	T	0.59689	0.2212	H	0.96048	3.76	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;0.999;1.0;0.999	T	0.71790	-0.4486	10	0.87932	D	0	-29.45	13.7191	0.62717	0.0:0.0:0.7428:0.2572	.	983;983;1069;1038	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	W	1069;948;983	ENSP00000324573:R1069W;ENSP00000368763:R983W	ENSP00000324573:R1069W	R	-	1	2	FLII	18090348	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.363000	0.52321	2.681000	0.91329	0.643000	0.83706	CGG		PASS	0.652	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	Missense_Mutation	5	89	5	89	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73732371	73732371	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr17:73732371C>T	ENST00000200181.3	+	15	1951	c.1764C>T	c.(1762-1764)ggC>ggT	p.G588G	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.G588G|ITGB4_ENST00000450894.3_Silent_p.G588G|ITGB4_ENST00000579662.1_Silent_p.G588G|ITGB4_ENST00000449880.2_Silent_p.G588G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	588	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.G588G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCCCAGGGCATCTGTAATG	0.627																																						uc002jpg.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)	4						c.(1762-1764)GGC>GGT		integrin beta 4 isoform 1 precursor							64.0	66.0	65.0					17																	73732371		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73732371C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1764C>T	17.37:g.73732371C>T						ITGB4_uc002jph.2_Silent_p.G588G|ITGB4_uc010dgo.2_Silent_p.G588G|ITGB4_uc002jpi.3_Silent_p.G588G|ITGB4_uc010dgp.1_Silent_p.G588G|ITGB4_uc002jpj.2_Silent_p.G588G|ITGB4_uc010wsh.1_Silent_p.G143G	p.G588G	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	1951	+	all_cancers(13;1.5e-07)		588			Cysteine-rich tandem repeats.|Extracellular (Potential).|IV.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1764C>T	CCDS11727.1																																																																																				PASS	0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			68	47	68	47	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6980547	6980547	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr18:6980547G>A	ENST00000389658.3	-	42	6073	c.5980C>T	c.(5980-5982)Ctc>Ttc	p.L1994F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1994	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L1994F(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGTATCAAGAGTGATTCATTG	0.353																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5980-5982)CTC>TTC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						200.0	173.0	182.0					18																	6980547		2201	4300	6501	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6980547G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5980C>T	18.37:g.6980547G>A	ENSP00000374309:p.Leu1994Phe					LAMA1_uc010wzj.1_Missense_Mutation_p.L1470F	p.L1994F	NM_005559	NP_005550	P25391	LAMA1_HUMAN			42	6074	-		Colorectal(10;0.172)	1994			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5980C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599482	0.28534	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.15	3.37	0.38596	.	0.242056	0.28317	N	0.015785	T	0.23133	0.0559	M	0.68593	2.085	0.09310	N	0.999997	P	0.48089	0.905	B	0.42653	0.394	T	0.10291	-1.0636	10	0.45353	T	0.12	.	8.6622	0.34099	0.1913:0.1214:0.6874:0.0	.	1994	P25391	LAMA1_HUMAN	F	1994	ENSP00000374309:L1994F	ENSP00000374309:L1994F	L	-	1	0	LAMA1	6970547	0.962000	0.33011	0.002000	0.10522	0.661000	0.39034	0.763000	0.26517	0.288000	0.22398	-0.795000	0.03280	CTC		PASS	0.353	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		15	68	15	68	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511803	4511803	+	Missense_Mutation	SNP	C	C	G	rs370698276		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:4511803C>G	ENST00000301286.3	-	3	2126	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	709	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.K637N(1)|p.K709N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TTAGGACAGTCTTGGTGGTGT	0.592																																						uc002mar.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2125-2127)AAG>AAC		plasma membrane associated protein, S3-12		C	ASN/LYS	0,4270		0,0,2135	253.0	269.0	264.0		2127	1.6	0.2	19		264	1,8477		0,1,4238	no	missense	PLIN4	NM_001080400.1	94	0,1,6373	GG,GC,CC		0.0118,0.0,0.0078	probably-damaging	709/1358	4511803	1,12747	2135	4239	6374	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511803C>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2127G>C	19.37:g.4511803C>G	ENSP00000301286:p.Lys709Asn					PLIN4_uc010dub.1_5'Flank	p.K709N	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2127	-			709			19.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2127G>C	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928483	0.34002	0.0	1.18E-4	ENSG00000167676	ENST00000301286	T	0.06849	3.25	4.89	1.59	0.23543	.	0.310545	0.22711	N	0.056569	T	0.12263	0.0298	M	0.83118	2.625	0.09310	N	1	B	0.25772	0.134	B	0.29353	0.101	T	0.16630	-1.0396	10	0.72032	D	0.01	-16.8297	5.3652	0.16109	0.0:0.598:0.1535:0.2486	.	709	Q96Q06	PLIN4_HUMAN	N	709	ENSP00000301286:K709N	ENSP00000301286:K709N	K	-	3	2	PLIN4	4462803	0.000000	0.05858	0.165000	0.22776	0.049000	0.14656	-0.105000	0.10907	1.048000	0.40298	0.205000	0.17691	AAG		PASS	0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		71	444	71	444	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9577783	9577783	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:9577783C>G	ENST00000301480.4	-	10	2053	c.1840G>C	c.(1840-1842)Gat>Cat	p.D614H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	614					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.D614H(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						TTAGTAAGATCTGAGCGTTCT	0.408																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1840-1842)GAT>CAT		zinc finger protein 560							160.0	143.0	148.0					19																	9577783		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577783C>G	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.1840G>C	19.37:g.9577783C>G	ENSP00000301480:p.Asp614His					ZNF560_uc010dwr.1_Missense_Mutation_p.D508H	p.D614H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2050	-			614			C2H2-type 10.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1840G>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084930	0.36758	.	.	ENSG00000198028	ENST00000301480	T	0.18657	2.2	1.89	-3.78	0.04333	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.03071	-0.42	0.09310	N	1	D	0.56746	0.977	P	0.54346	0.749	T	0.05241	-1.0897	9	0.20519	T	0.43	.	1.5105	0.02495	0.3454:0.357:0.1706:0.1271	.	614	Q96MR9	ZN560_HUMAN	H	614	ENSP00000301480:D614H	ENSP00000301480:D614H	D	-	1	0	ZNF560	9438783	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-9.435000	0.00011	-1.049000	0.03234	0.313000	0.20887	GAT		PASS	0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		53	160	53	160	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13928130	13928130	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:13928130C>T	ENST00000254323.2	+	7	1470	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Silent_p.A261A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	427							zinc ion binding (GO:0008270)	p.A427A(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCTGGAGGCCTGTCGTCTGG	0.642																																						uc002mxh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1279-1281)GCC>GCT		zinc finger, SWIM-type containing 4							64.0	63.0	64.0					19																	13928130		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13928130C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1281C>T	19.37:g.13928130C>T						ZSWIM4_uc010xng.1_Silent_p.A350A	p.A427A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		7	1470	+			427						Silent	SNP	ENST00000254323.2	37	c.1281C>T	CCDS32924.1																																																																																				PASS	0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		49	64	49	64	---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15587093	15587093	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:15587093C>T	ENST00000340880.4	-	2	868	c.388G>A	c.(388-390)Gca>Aca	p.A130T	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.A130T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	130					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.A130T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGCAGCCCTGCCTCCAGCCCC	0.612																																						uc002nbf.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(388-390)GCA>ACA		peptidoglycan recognition protein 2 precursor							98.0	84.0	89.0					19																	15587093		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587093C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.388G>A	19.37:g.15587093C>T	ENSP00000345968:p.Ala130Thr					PGLYRP2_uc002nbg.3_Missense_Mutation_p.A130T	p.A130T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	521	-			130					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.388G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600166	0.46423	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05925	3.41;3.37	5.17	5.17	0.71159	.	0.160773	0.38778	N	0.001578	T	0.24851	0.0603	M	0.80183	2.485	0.19945	N	0.999947	D;D	0.71674	0.996;0.998	D;D	0.65987	0.94;0.919	T	0.04103	-1.0977	10	0.72032	D	0.01	-15.9912	14.1773	0.65549	0.0:1.0:0.0:0.0	.	130;130	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	T	130	ENSP00000345968:A130T;ENSP00000292609:A130T	ENSP00000292609:A130T	A	-	1	0	PGLYRP2	15448093	0.969000	0.33509	0.613000	0.29037	0.116000	0.19942	3.376000	0.52417	2.430000	0.82344	0.563000	0.77884	GCA		PASS	0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		32	84	32	84	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21216941	21216941	+	Silent	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:21216941A>T	ENST00000261560.5	+	4	454	c.273A>T	c.(271-273)ggA>ggT	p.G91G	ZNF430_ENST00000599548.1_Silent_p.G91G|ZNF430_ENST00000595401.1_Silent_p.G90G	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	91	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G91G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAGCAAGGAAAAGAGCCCT	0.408																																						uc002npj.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(271-273)GGA>GGT		zinc finger protein 430							129.0	126.0	127.0					19																	21216941		2203	4300	6503	SO:0001819	synonymous_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21216941A>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.273A>T	19.37:g.21216941A>T						ZNF430_uc002npk.2_Silent_p.G90G	p.G91G	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			4	383	+			91			KRAB.		Q86V70	Silent	SNP	ENST00000261560.5	37	c.273A>T	CCDS32978.1																																																																																				PASS	0.408	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		56	61	56	61	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33113388	33113388	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:33113388C>T	ENST00000306065.4	-	18	1925	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	589					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A589A(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCTCGGTGGACGCTCCGTTCT	0.527																																						uc002ntn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1765-1767)GCG>GCA		ankyrin repeat domain 27 (VPS9 domain)							235.0	205.0	215.0					19																	33113388		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113388C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1767G>A	19.37:g.33113388C>T							p.A589A	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			18	1923	-	Esophageal squamous(110;0.137)		589			ANK 5.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1767G>A	CCDS32986.1																																																																																				PASS	0.527	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		237	359	237	359	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33703303	33703303	+	Missense_Mutation	SNP	G	G	A	rs375602222		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:33703303G>A	ENST00000253188.4	-	5	829	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	228					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.T228M(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGGGCGTCATCCAGAA	0.627																																						uc002num.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(682-684)ACG>ATG		solute carrier family 7, member 10		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	52.0	47.0	49.0		683	5.1	1.0	19		49	0,8600		0,0,4300	no	missense	SLC7A10	NM_019849.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	228/524	33703303	1,13005	2203	4300	6503	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33703303G>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.683C>T	19.37:g.33703303G>A	ENSP00000253188:p.Thr228Met					SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Missense_Mutation_p.T201M	p.T228M	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN			5	830	-	Esophageal squamous(110;0.137)		228					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.683C>T	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892441	0.72524	2.27E-4	0.0	ENSG00000130876	ENST00000253188	D	0.90620	-2.7	5.08	5.08	0.68730	Amino acid permease domain (1);	0.298874	0.36703	N	0.002442	D	0.90748	0.7096	L	0.39898	1.24	0.80722	D	1	D	0.58620	0.983	P	0.57911	0.829	D	0.90601	0.4544	10	0.54805	T	0.06	.	11.0051	0.47629	0.0858:0.0:0.9142:0.0	.	228	Q9NS82	AAA1_HUMAN	M	228	ENSP00000253188:T228M	ENSP00000253188:T228M	T	-	2	0	SLC7A10	38395143	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	3.108000	0.50337	2.376000	0.81061	0.462000	0.41574	ACG		PASS	0.627	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		38	68	38	68	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36557157	36557157	+	Splice_Site	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:36557157A>G	ENST00000270301.7	+	5	390		c.e5-1		WDR62_ENST00000401500.2_Splice_Site|WDR62_ENST00000388999.3_Splice_Site|WDR62_ENST00000378860.4_Splice_Site			O43379	WDR62_HUMAN	WD repeat domain 62						cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.?(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACCTTCCCTAGAATGGGCAT	0.582																																						uc002odc.2																			1	Unknown(1)		lung(1)		0						c.e5-2		WD repeat domain 62 isoform 2							100.0	82.0	88.0					19																	36557157		2203	4300	6503	SO:0001630	splice_region_variant	284403				cerebral cortex development	nucleus		g.chr19:36557157A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.391-1A>G	19.37:g.36557157A>G						WDR62_uc002odd.2_Splice_Site_p.N131_splice|WDR62_uc002odb.2_Splice_Site_p.N131_splice	p.N131_splice	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	482	+	Esophageal squamous(110;0.162)							Q63HP9|Q659D7|Q8NBF7|Q96AD9	Splice_Site	SNP	ENST00000270301.7	37	c.391_splice	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987011	0.74589	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1367	0.65291	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR62	41248997	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	8.961000	0.93122	2.232000	0.73038	0.529000	0.55759	.		PASS	0.582	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	Intron	34	98	34	98	---	---	---	---
ZNF570	148268	broad.mit.edu	37	19	37975983	37975983	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:37975983C>G	ENST00000330173.1	+	5	1988	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	ZNF570_ENST00000586475.1_Missense_Mutation_p.Q543E|CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000388801.3_Missense_Mutation_p.Q284E	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	487					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.Q487E(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCCCTTGCCCAACATCAGAG	0.433																																						uc002ogk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1459-1461)CAA>GAA		zinc finger protein 570							108.0	111.0	110.0					19																	37975983		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975983C>G	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1459C>G	19.37:g.37975983C>G	ENSP00000331540:p.Gln487Glu					ZNF570_uc010efl.1_Missense_Mutation_p.Q543E|ZNF570_uc010xtr.1_Missense_Mutation_p.Q284E	p.Q487E	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1988	+			487			C2H2-type 10.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.1459C>G	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	1.831	-0.469857	0.04445	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.35421	1.31;1.31	4.25	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.773311	0.11061	N	0.603958	T	0.19765	0.0475	N	0.02721	-0.515	0.21256	N	0.999749	B;P	0.49696	0.005;0.927	B;P	0.45276	0.021;0.475	T	0.05241	-1.0897	10	0.30078	T	0.28	.	11.9413	0.52903	0.0:0.8224:0.1776:0.0	.	284;487	B4DMP1;Q96NI8	.;ZN570_HUMAN	E	487;284	ENSP00000331540:Q487E;ENSP00000373453:Q284E	ENSP00000331540:Q487E	Q	+	1	0	ZNF570	42667823	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.963000	0.03837	2.351000	0.79841	0.563000	0.77884	CAA		PASS	0.433	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		33	163	33	163	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43262355	43262355	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:43262355C>T	ENST00000306511.4	-	3	605	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PSG8_ENST00000404209.4_Missense_Mutation_p.D170N|PSG8_ENST00000406636.3_Missense_Mutation_p.D48N|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	170	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.D170N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTCTCAGGATCACAGGTTAAG	0.532																																						uc002ouo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAT>AAT		pregnancy specific beta-1-glycoprotein 8 isoform							212.0	217.0	215.0					19																	43262355		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262355C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.508G>A	19.37:g.43262355C>T	ENSP00000305005:p.Asp170Asn					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.D9N|PSG8_uc002ouh.2_Missense_Mutation_p.D170N|PSG8_uc010ein.2_Missense_Mutation_p.D48N|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.D9N|PSG8_uc002oul.3_Missense_Mutation_p.D170N|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.D170N	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	606	-		Prostate(69;0.00899)	170			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.508G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	7.987	0.752428	0.15778	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000306511	T;T;T	0.12255	2.7;2.7;2.7	1.38	-0.108	0.13588	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08980	0.0222	N	0.17723	0.515	0.09310	N	1	B;B;B;B	0.15473	0.0;0.003;0.011;0.013	B;B;B;B	0.29862	0.003;0.02;0.065;0.108	T	0.39231	-0.9624	9	0.49607	T	0.09	.	4.7391	0.13003	0.0:0.5946:0.4054:0.0	.	48;170;170;170	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	N	170;45;48;170	ENSP00000385869:D170N;ENSP00000385081:D48N;ENSP00000305005:D170N	ENSP00000292109:D45N	D	-	1	0	PSG8	47954195	0.001000	0.12720	0.009000	0.14445	0.014000	0.08584	-0.694000	0.05115	0.731000	0.32448	0.298000	0.19748	GAT		PASS	0.532	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			90	526	90	526	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44273660	44273660	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:44273660T>G	ENST00000262888.3	-	6	1378	c.983A>C	c.(982-984)cAt>cCt	p.H328P		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	328	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.H328P(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCTGCGAGTATGTTTGTAGAA	0.582																																						uc002oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(982-984)CAT>CCT		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						91.0	85.0	87.0					19																	44273660		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273660T>G	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.983A>C	19.37:g.44273660T>G	ENSP00000262888:p.His328Pro					KCNN4_uc010eiz.2_Intron	p.H328P	NM_002250	NP_002241	O15554	KCNN4_HUMAN			6	1379	-		Prostate(69;0.0352)	328			Calmodulin-binding.		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.983A>C	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833585	0.71258	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.24151	1.87	5.23	5.23	0.72850	Calmodulin-binding domain (2);	0.111909	0.64402	D	0.000018	T	0.43765	0.1262	M	0.75777	2.31	0.48632	D	0.99968	D	0.62365	0.991	P	0.54590	0.756	T	0.47497	-0.9113	10	0.87932	D	0	-10.9627	13.3711	0.60713	0.0:0.0:0.0:1.0	.	328	O15554	KCNN4_HUMAN	P	328;196	ENSP00000262888:H328P	ENSP00000262888:H328P	H	-	2	0	KCNN4	48965500	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	4.472000	0.60189	2.111000	0.64477	0.533000	0.62120	CAT		PASS	0.582	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		33	204	33	204	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53912214	53912214	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:53912214A>G	ENST00000396408.3	+	4	1523	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	469					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.N469S(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACAAGTGTAATGAGTGTGGC	0.378																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)AAT>AGT		zinc finger protein 765							102.0	108.0	106.0					19																	53912214		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912214A>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1406A>G	19.37:g.53912214A>G	ENSP00000379689:p.Asn469Ser					ZNF765_uc002qbm.2_Missense_Mutation_p.N469S|ZNF765_uc002qbn.2_Intron	p.N469S	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1733	+			469			C2H2-type 10.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1406A>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	9.109	1.006097	0.19199	.	.	ENSG00000196417	ENST00000396408	T	0.07216	3.21	1.38	-2.76	0.05896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.10837	0.055	0.09310	N	1	D	0.55800	0.973	P	0.62435	0.902	T	0.13072	-1.0523	8	.	.	.	.	2.5562	0.04761	0.3371:0.0:0.1873:0.4756	.	469	Q7L2R6	ZN765_HUMAN	S	469	ENSP00000379689:N469S	.	N	+	2	0	ZNF765	58604026	0.000000	0.05858	0.002000	0.10522	0.449000	0.32228	-3.254000	0.00538	-1.320000	0.02283	0.148000	0.16107	AAT		PASS	0.378	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		53	159	53	159	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55290069	55290069	+	Intron	SNP	C	C	A	rs113506642	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:55290069C>A	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P224T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.P224T|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P224T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTAGGAAACCCTTCAAATAG	0.498																																						uc002qhb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)CCT>ACT		killer cell immunoglobulin-like receptor, two							70.0	67.0	68.0					19																	55290069		1937	3897	5834	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55290069C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-38920C>A	19.37:g.55290069C>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.P224T	p.P224T	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	5	708	+			224			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.670C>A		.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155759	0.06544	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00502	6.95;7.06	0.569	-1.01	0.10169	.	.	.	.	.	T	0.00524	0.0017	M	0.67569	2.06	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.11329	0.002;0.006	T	0.41395	-0.9511	8	0.87932	D	0	.	.	.	.	.	224;224	Q6IST4;Q6H2H3	.;.	T	224	ENSP00000336769:P224T;ENSP00000291633:P224T	ENSP00000291633:P224T	P	+	1	0	KIR2DL1	59981881	0.003000	0.15002	0.064000	0.19789	0.061000	0.15899	-0.309000	0.08145	-0.398000	0.07679	0.184000	0.17185	CCT		PASS	0.498	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		42	138	42	138	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56320484	56320484	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:56320484G>T	ENST00000589093.1	-	3	1585	c.1492C>A	c.(1492-1494)Ctt>Att	p.L498I	NLRP11_ENST00000589824.2_Missense_Mutation_p.L498I|NLRP11_ENST00000592953.1_Missense_Mutation_p.L399I|NLRP11_ENST00000360133.3_Missense_Mutation_p.L498I|NLRP11_ENST00000443188.1_Missense_Mutation_p.L498I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	498							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.L498I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCATTTAGAAGACCAAAAATG	0.418																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1492-1494)CTT>ATT		NLR family, pyrin domain containing 11							112.0	112.0	112.0					19																	56320484		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320484G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1492C>A	19.37:g.56320484G>T	ENSP00000466285:p.Leu498Ile					NLRP11_uc002qlz.2_Missense_Mutation_p.L399I|NLRP11_uc002qmb.2_Missense_Mutation_p.L399I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.L498I	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2203	-		Colorectal(82;0.0002)	498					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1492C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442306	0.43326	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	D;D	0.89270	-2.49;-2.42	2.19	2.19	0.27852	.	.	.	.	.	D	0.91905	0.7437	M	0.81112	2.525	0.09310	N	1	P;D	0.54397	0.942;0.966	P;P	0.58077	0.816;0.832	T	0.82510	-0.0421	9	0.45353	T	0.12	.	7.9594	0.30062	0.0:0.0:1.0:0.0	.	498;498	P59045;P59045-2	NAL11_HUMAN;.	I	498	ENSP00000409898:L498I;ENSP00000353251:L498I	ENSP00000353251:L498I	L	-	1	0	NLRP11	61012296	0.502000	0.26107	0.006000	0.13384	0.015000	0.08874	1.484000	0.35508	1.547000	0.49401	0.650000	0.86243	CTT		PASS	0.418	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		74	222	74	222	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443411	56443411	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr19:56443411G>T	ENST00000342929.3	-	1	266	c.267C>A	c.(265-267)ttC>ttA	p.F89L	NLRP13_ENST00000588751.1_Missense_Mutation_p.F89L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	89	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.F89F(2)|p.F89L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCATTGTCTGGAAGATGCCGA	0.507																																						uc010ygg.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)		skin(2)|lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(265-267)TTC>TTA		NACHT, leucine rich repeat and PYD containing							64.0	58.0	60.0					19																	56443411		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443411G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.267C>A	19.37:g.56443411G>T	ENSP00000343891:p.Phe89Leu						p.F89L	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	292	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	89			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.267C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012110	0.35511	.	.	ENSG00000173572	ENST00000342929	T	0.61742	0.08	1.97	-3.94	0.04130	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.44787	0.1310	L	0.46670	1.46	0.09310	N	1	B	0.29909	0.261	B	0.33392	0.163	T	0.39722	-0.9600	9	0.46703	T	0.11	.	4.9398	0.13960	0.2277:0.1964:0.5759:0.0	.	89	Q86W25	NAL13_HUMAN	L	89	ENSP00000343891:F89L	ENSP00000343891:F89L	F	-	3	2	NLRP13	61135223	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.142000	0.02869	0.591000	0.81541	TTC		PASS	0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		72	120	72	120	---	---	---	---
DEFB125	245938	broad.mit.edu	37	20	77049	77049	+	Silent	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr20:77049T>A	ENST00000382410.2	+	2	462	c.462T>A	c.(460-462)acT>acA	p.T154T	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	154					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T154T(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CAGCTCTTACTCATAATTAAT	0.423																																						uc002wcw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(460-462)ACT>ACA		defensin, beta 125 preproprotein							155.0	153.0	154.0					20																	77049		2203	4300	6503	SO:0001819	synonymous_variant	245938				defense response to bacterium	extracellular region		g.chr20:77049T>A	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.462T>A	20.37:g.77049T>A							p.T154T	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	462	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	154					A1A502|Q7Z7B9	Silent	SNP	ENST00000382410.2	37	c.462T>A	CCDS12989.2																																																																																				PASS	0.423	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		75	411	75	411	---	---	---	---
MAVS	57506	broad.mit.edu	37	20	3842088	3842088	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr20:3842088A>T	ENST00000428216.2	+	4	530	c.402A>T	c.(400-402)agA>agT	p.R134S	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	134	Pro-rich.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|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)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R134S(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACAGCTGCAGAGAGAAGGAGC	0.627																																						uc002wjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)AGA>AGT		virus-induced signaling adapter							77.0	78.0	77.0					20																	3842088		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|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|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842088A>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.402A>T	20.37:g.3842088A>T	ENSP00000401980:p.Arg134Ser					MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	p.R134S	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			4	571	+			134			Pro-rich.|Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.402A>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199591	0.38806	.	.	ENSG00000088888	ENST00000428216	T	0.11063	2.81	4.49	2.23	0.28157	.	1.486890	0.04194	N	0.328785	T	0.15132	0.0365	L	0.50333	1.59	0.09310	N	0.999996	P	0.46912	0.886	P	0.45829	0.494	T	0.19160	-1.0314	10	0.39692	T	0.17	-3.3945	6.0245	0.19648	0.7911:0.0:0.2089:0.0	.	134	Q7Z434	MAVS_HUMAN	S	134	ENSP00000401980:R134S	ENSP00000401980:R134S	R	+	3	2	MAVS	3790088	0.996000	0.38824	0.002000	0.10522	0.110000	0.19582	1.498000	0.35660	0.351000	0.24027	-0.353000	0.07706	AGA		PASS	0.627	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		10	188	10	188	---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44806640	44806640	+	Silent	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr20:44806640G>A	ENST00000372262.3	-	10	2260	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	CDH22_ENST00000537909.1_Silent_p.A620A	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	620					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A620A(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCTGAGGGAGGCGGCCATGA	0.647																																						uc002xrm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1858-1860)GCC>GCT		cadherin 22 precursor							81.0	64.0	69.0					20																	44806640		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44806640G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1860C>T	20.37:g.44806640G>A						CDH22_uc010ghk.1_Silent_p.A620A	p.A620A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			10	2261	-		Myeloproliferative disorder(115;0.0122)	620			Extracellular (Potential).		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1860C>T	CCDS13395.1																																																																																				PASS	0.647	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		32	13	32	13	---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52779309	52779309	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr20:52779309T>G	ENST00000216862.3	-	7	1330	c.937A>C	c.(937-939)Aag>Cag	p.K313Q	CYP24A1_ENST00000395955.3_Missense_Mutation_p.K313Q|CYP24A1_ENST00000395954.3_Missense_Mutation_p.K171Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	313					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.K313Q(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AATTCTTTCTTTGAAAGCCGA	0.453																																						uc002xwv.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(937-939)AAG>CAG		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						76.0	69.0	71.0					20																	52779309		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779309T>G	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.937A>C	20.37:g.52779309T>G	ENSP00000216862:p.Lys313Gln					CYP24A1_uc002xwu.1_Missense_Mutation_p.K171Q|CYP24A1_uc002xww.2_Missense_Mutation_p.K313Q	p.K313Q	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1335	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		313					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.937A>C	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751651	0.89753	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.68624	-0.34;-0.34;-0.34	5.6	5.6	0.85130	.	0.046747	0.85682	D	0.000000	T	0.76877	0.4049	M	0.81942	2.565	0.53688	D	0.999973	D;D;D	0.63046	0.992;0.985;0.985	P;P;P	0.54590	0.756;0.597;0.597	T	0.76000	-0.3119	10	0.23891	T	0.37	-9.6898	14.9587	0.71138	0.0:0.0:0.0:1.0	.	313;313;171	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	Q	313;313;171	ENSP00000216862:K313Q;ENSP00000379285:K313Q;ENSP00000379284:K171Q	ENSP00000216862:K313Q	K	-	1	0	CYP24A1	52212716	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.425000	0.80255	2.129000	0.65627	0.533000	0.62120	AAG		PASS	0.453	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			58	41	58	41	---	---	---	---
SLC2A4RG	56731	broad.mit.edu	37	20	62373567	62373567	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr20:62373567C>T	ENST00000266077.2	+	5	716	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R222C(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GAGACACATCCGCCTGGTGCA	0.706																																						uc002ygq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CGC>TGC		SLC2A4 regulator							17.0	21.0	20.0					20																	62373567		2173	4275	6448	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62373567C>T	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.664C>T	20.37:g.62373567C>T	ENSP00000266077:p.Arg222Cys					SLC2A4RG_uc002ygr.2_Missense_Mutation_p.R117C|SLC2A4RG_uc011abj.1_Missense_Mutation_p.R117C|SLC2A4RG_uc002ygs.2_Missense_Mutation_p.R24C|SLC2A4RG_uc002ygt.2_Missense_Mutation_p.R24C	p.R222C	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN			5	719	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		222			C2H2-type.		Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.664C>T	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663285	0.67700	.	.	ENSG00000125520	ENST00000266077	T	0.60548	0.18	3.7	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.262573	0.21623	U	0.071605	T	0.69477	0.3115	M	0.80616	2.505	0.44685	D	0.997672	D;D	0.89917	1.0;1.0	P;D	0.65233	0.901;0.933	T	0.71133	-0.4681	10	0.87932	D	0	.	4.86	0.13579	0.2068:0.6734:0.0:0.1197	.	117;222	Q2PHL5;Q9NR83	.;S2A4R_HUMAN	C	222	ENSP00000266077:R222C	ENSP00000266077:R222C	R	+	1	0	SLC2A4RG	61844011	1.000000	0.71417	0.992000	0.48379	0.788000	0.44548	1.211000	0.32382	1.618000	0.50286	0.313000	0.20887	CGC		PASS	0.706	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		12	6	12	6	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35183447	35183447	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr21:35183447C>T	ENST00000381318.3	+	21	2776	c.2488C>T	c.(2488-2490)Cgt>Tgt	p.R830C	ITSN1_ENST00000399349.1_Missense_Mutation_p.R825C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Missense_Mutation_p.R825C|ITSN1_ENST00000437442.2_Missense_Mutation_p.R825C|ITSN1_ENST00000399355.2_Missense_Mutation_p.R830C|ITSN1_ENST00000381285.4_Missense_Mutation_p.R830C|ITSN1_ENST00000399367.3_Missense_Mutation_p.R825C|ITSN1_ENST00000399352.1_Missense_Mutation_p.R825C|ITSN1_ENST00000399353.1_Missense_Mutation_p.R788C|ITSN1_ENST00000399338.4_Missense_Mutation_p.R825C|ITSN1_ENST00000381291.4_Missense_Mutation_p.R830C|ITSN1_ENST00000379960.5_Missense_Mutation_p.R825C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	830					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R830C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTGGCCTTGCGTGAGACCCC	0.557																																						uc002yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2488-2490)CGT>TGT		intersectin 1 isoform ITSN-l							86.0	85.0	86.0					21																	35183447		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183447C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2488C>T	21.37:g.35183447C>T	ENSP00000370719:p.Arg830Cys					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R825C|ITSN1_uc010gmg.2_Missense_Mutation_p.R788C|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R830C|ITSN1_uc010gmi.2_Missense_Mutation_p.R793C|ITSN1_uc010gmj.2_Missense_Mutation_p.R709C|ITSN1_uc002ysy.2_Missense_Mutation_p.R825C|ITSN1_uc002ysx.2_Missense_Mutation_p.R788C|ITSN1_uc002ytb.1_Missense_Mutation_p.R825C|ITSN1_uc002ytc.1_Missense_Mutation_p.R825C|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R793C|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R825C|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R764C|ITSN1_uc002ytf.1_RNA	p.R830C	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			21	2756	+			830					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2488C>T	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.041908|4.041908	0.75732|0.75732	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000440794|ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.46819	.|1.35;0.86;0.92;0.86;0.92;1.37;0.91;1.24;1.92;0.91;1.91;1.95	5.9|5.9	5.02|5.02	0.67125|0.67125	.|.	.|0.413823	.|0.27673	.|N	.|0.018331	T|T	0.40372|0.40372	0.1114|0.1114	N|N	0.08118|0.08118	0|0	0.37593|0.37593	D|D	0.92026|0.92026	.|B;B;D;B;B;B;D;D;B;D	.|0.71674	.|0.072;0.132;0.978;0.007;0.026;0.004;0.989;0.989;0.24;0.998	.|B;B;B;B;B;B;P;P;B;P	.|0.53809	.|0.008;0.012;0.226;0.003;0.019;0.001;0.613;0.676;0.04;0.735	T|T	0.53549|0.53549	-0.8423|-0.8423	5|10	.|0.54805	.|T	.|0.06	.|.	13.4061|13.4061	0.60913|0.60913	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	.|793;793;788;825;830;825;825;830;825;788	.|A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.|.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	V|C	64|788;830;830;830;830;825;825;825;830;825;825;825;825;825	.|ENSP00000382290:R788C;ENSP00000370719:R830C;ENSP00000370691:R830C;ENSP00000370685:R830C;ENSP00000382301:R825C;ENSP00000382289:R825C;ENSP00000382292:R830C;ENSP00000382286:R825C;ENSP00000382275:R825C;ENSP00000387377:R825C;ENSP00000382265:R825C;ENSP00000369294:R825C	.|ENSP00000369294:R825C	A|R	+|+	2|1	0|0	ITSN1|ITSN1	34105317|34105317	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	1.812000|1.812000	0.38952|0.38952	1.507000|1.507000	0.48752|0.48752	0.563000|0.563000	0.77884|0.77884	GCG|CGT		PASS	0.557	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		55	105	55	105	---	---	---	---
KRTAP12-4	386684	broad.mit.edu	37	21	46074476	46074476	+	Missense_Mutation	SNP	C	C	T	rs587630507|rs376121988|rs370429587	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr21:46074476C>T	ENST00000391618.1	-	1	100	c.56G>A	c.(55-57)tGc>tAc	p.C19Y	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	19	15 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.C19Y(1)		lung(4)|ovary(1)|prostate(1)	6						GGGGACACAGCACGGGGAGCC	0.677																																						uc002zfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)TGC>TAC		keratin associated protein 12-4							16.0	22.0	20.0					21																	46074476		2052	4197	6249	SO:0001583	missense	386684					keratin filament		g.chr21:46074476C>T	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.56G>A	21.37:g.46074476C>T	ENSP00000375476:p.Cys19Tyr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C19Y	NM_198698	NP_941971	P60329	KR124_HUMAN			1	101	-			19			15 X 5 AA approximate repeats.		Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.56G>A	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	c	9.759	1.169604	0.21621	.	.	ENSG00000212933	ENST00000391618	T	0.01887	4.58	3.04	1.09	0.20402	.	.	.	.	.	T	0.11922	0.0290	M	0.89904	3.07	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.10222	-1.0639	9	0.27785	T	0.31	.	8.9021	0.35501	0.0:0.5461:0.4539:0.0	.	19	P60329	KR124_HUMAN	Y	19	ENSP00000375476:C19Y	ENSP00000375476:C19Y	C	-	2	0	KRTAP12-4	44898904	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	-0.114000	0.10757	0.277000	0.22141	-0.499000	0.04595	TGC		PASS	0.677	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			10	12	10	12	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46896339	46896339	+	Silent	SNP	G	G	T	rs183924183	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr21:46896339G>T	ENST00000359759.4	+	5	2139	c.2118G>T	c.(2116-2118)acG>acT	p.T706T	COL18A1_ENST00000400337.2_Silent_p.T291T|COL18A1_ENST00000355480.5_Silent_p.T471T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	706	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.T471T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCAGCAGCACGGAAGATTCCA	0.627																																						uc011afs.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2116-2118)ACG>ACT		alpha 1 type XVIII collagen isoform 3 precursor							68.0	73.0	71.0					21																	46896339		2083	4206	6289	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46896339G>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2118G>T	21.37:g.46896339G>T						COL18A1_uc002zhg.2_Silent_p.T291T|COL18A1_uc002zhi.2_Silent_p.T471T	p.T706T	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	5	2139	+			706			Nonhelical region 1 (NC1).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.2118G>T																																																																																					PASS	0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			23	47	23	47	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21988525	21988525	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr22:21988525G>T	ENST00000292779.3	+	3	448	c.287G>T	c.(286-288)cGc>cTc	p.R96L	CCDC116_ENST00000607942.1_Missense_Mutation_p.R96L	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	96			R -> C (in dbSNP:rs861854).					p.R96L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGACTGAGCGCATGGCTGCC	0.632																																						uc002zve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(286-288)CGC>CTC		coiled-coil domain containing 116							101.0	92.0	95.0					22																	21988525		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21988525G>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.287G>T	22.37:g.21988525G>T	ENSP00000292779:p.Arg96Leu					CCDC116_uc011aih.1_Missense_Mutation_p.R96L	p.R96L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			3	380	+	Colorectal(54;0.105)		96			Potential.		Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.287G>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196369	0.58126	.	.	ENSG00000161180	ENST00000292779	T	0.22945	1.93	4.55	2.44	0.29823	.	0.657051	0.13333	N	0.395798	T	0.19725	0.0474	L	0.43923	1.385	0.09310	N	1	B;B	0.32573	0.262;0.376	B;B	0.34722	0.062;0.188	T	0.14364	-1.0475	9	.	.	.	-64.5118	5.1816	0.15163	0.1046:0.0:0.6906:0.2048	.	96;96	B7Z7H5;Q8IYX3-2	.;.	L	96	ENSP00000292779:R96L	.	R	+	2	0	CCDC116	20318525	0.086000	0.21541	0.026000	0.17262	0.883000	0.51084	0.211000	0.17474	1.259000	0.44117	0.585000	0.79938	CGC		PASS	0.632	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		41	85	41	85	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50897990	50897990	+	Silent	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr22:50897990G>A	ENST00000390679.3	-	27	3781	c.3597C>T	c.(3595-3597)agC>agT	p.S1199S	SBF1_ENST00000348911.6_Silent_p.S1200S|SBF1_ENST00000380817.3_Silent_p.S1199S|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1199	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1199S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACCGCCCGCTGCGCCAGC	0.672																																						uc003blh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3595-3597)AGC>AGT		SET binding factor 1							19.0	22.0	21.0					22																	50897990		2108	4218	6326	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50897990G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3597C>T	22.37:g.50897990G>A						SBF1_uc011arx.1_Silent_p.S863S	p.S1199S	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3792	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1199			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3597C>T																																																																																					PASS	0.672	SBF1-201	KNOWN	basic	protein_coding	protein_coding				34	19	34	19	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2161101	2161101	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:2161101C>T	ENST00000334651.5	-	6	819	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	256							oxidoreductase activity (GO:0016491)	p.R256H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCGCCAGACGGGTGGCCCA	0.612																																						uc004cqf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)CGT>CAT		dehydrogenase/reductase (SDR family) X-linked							103.0	96.0	98.0					X																	2161101		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161101C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.767G>A	X.37:g.2161101C>T	ENSP00000334113:p.Arg256His						p.R256H	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			6	816	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	256					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.767G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057877	0.19987	.	.	ENSG00000169084	ENST00000334651	T	0.78924	-1.22	1.45	0.349	0.16032	NAD(P)-binding domain (1);	0.196490	0.31472	U	0.007590	T	0.59609	0.2206	L	0.58583	1.82	0.09310	N	1	P	0.45348	0.856	B	0.26693	0.072	T	0.54159	-0.8335	10	0.26408	T	0.33	.	6.1014	0.20049	0.0:0.5706:0.0:0.4294	.	256	Q8N5I4	DHRSX_HUMAN	H	256	ENSP00000334113:R256H	ENSP00000334113:R256H	R	-	2	0	DHRSX	2171101	0.026000	0.19158	0.134000	0.22075	0.288000	0.27193	1.064000	0.30579	0.430000	0.26230	0.054000	0.15206	CGT		PASS	0.612	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		40	164	40	164	---	---	---	---
HCCS	3052	broad.mit.edu	37	X	11133044	11133044	+	Missense_Mutation	SNP	G	G	T	rs191165757		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:11133044G>T	ENST00000321143.4	+	3	392	c.190G>T	c.(190-192)Gtg>Ttg	p.V64L	HCCS_ENST00000380763.3_Missense_Mutation_p.V64L|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380762.4_Missense_Mutation_p.V64L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	64					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)	p.V64L(1)		kidney(1)|large_intestine(3)|lung(3)	7						CTATGAGTACGTGGAGTGTCC	0.478																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GTG>TTG		holocytochrome c synthase							121.0	100.0	107.0					X																	11133044		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11133044G>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.190G>T	X.37:g.11133044G>T	ENSP00000326579:p.Val64Leu					HCCS_uc004cuj.2_Missense_Mutation_p.V64L|HCCS_uc004cul.1_Missense_Mutation_p.V64L	p.V64L	NM_005333	NP_005324	P53701	CCHL_HUMAN			3	456	+			64					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.190G>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268029	0.80469	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82433	-1.61;-1.61;-1.61	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.71920	2.185	0.80722	D	1	P	0.52061	0.95	P	0.58520	0.84	D	0.87203	0.2242	10	0.33940	T	0.23	-34.3831	15.1865	0.73006	0.0:0.0:1.0:0.0	.	64	P53701	CCHL_HUMAN	L	64	ENSP00000326579:V64L;ENSP00000370140:V64L;ENSP00000370139:V64L	ENSP00000326579:V64L	V	+	1	0	HCCS	11042965	1.000000	0.71417	0.959000	0.39883	0.682000	0.39822	6.606000	0.74159	2.264000	0.75181	0.600000	0.82982	GTG		PASS	0.478	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			48	47	48	47	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32486704	32486704	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:32486704T>A	ENST00000357033.4	-	23	3279	c.3073A>T	c.(3073-3075)Att>Ttt	p.I1025F	DMD_ENST00000378677.2_Missense_Mutation_p.I1021F	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	1025					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.I1021F(1)|p.I1020F(1)|p.I1025F(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)				CGTCCCTCAATTTCTTCAAAT	0.428																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3073-3075)ATT>TTT		dystrophin Dp427m isoform							75.0	68.0	70.0					X																	32486704		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:32486704T>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.3073A>T	X.37:g.32486704T>A	ENSP00000354923:p.Ile1025Phe					DMD_uc004dcz.2_Missense_Mutation_p.I902F|DMD_uc004dcy.1_Missense_Mutation_p.I1021F|DMD_uc004ddb.1_Missense_Mutation_p.I1017F|DMD_uc010ngo.1_Intron	p.I1025F	NM_004006	NP_003997	P11532	DMD_HUMAN			23	3317	-		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)	1025			Spectrin 6.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3073A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	8.988	0.976964	0.18812	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.56611	0.45;0.45	5.12	1.3	0.21679	.	0.684728	0.10796	U	0.633193	T	0.42517	0.1206	L	0.27053	0.805	0.09310	N	1	B;B;B	0.32467	0.062;0.372;0.077	B;B;B	0.39258	0.044;0.295;0.073	T	0.38415	-0.9662	10	0.40728	T	0.16	.	9.2597	0.37605	0.0:0.3709:0.0:0.6291	.	1017;1025;1021	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	F	1017;1021;1025;1025;902	ENSP00000367948:I1021F;ENSP00000354923:I1025F	ENSP00000354923:I1025F	I	-	1	0	DMD	32396625	0.091000	0.21658	0.025000	0.17156	0.123000	0.20343	0.272000	0.18644	0.187000	0.20147	0.437000	0.28790	ATT		PASS	0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		3	36	3	36	---	---	---	---
SLC9A7	84679	broad.mit.edu	37	X	46502717	46502717	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:46502717T>C	ENST00000328306.4	-	12	1592	c.1567A>G	c.(1567-1569)Atc>Gtc	p.I523V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	523					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.I523V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCTCCAATGATCCAGACAGTG	0.502																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1567-1569)ATC>GTC		solute carrier family 9, member 7							112.0	66.0	81.0					X																	46502717		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46502717T>C	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1567A>G	X.37:g.46502717T>C	ENSP00000330320:p.Ile523Val						p.I523V	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			12	1575	-			523			Helical; (Potential).		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.1567A>G	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	T	2.431	-0.330954	0.05314	.	.	ENSG00000065923	ENST00000328306	T	0.12039	2.72	5.33	-2.93	0.05598	Cation/H+ exchanger (1);	0.592673	0.18989	N	0.125642	T	0.03053	0.0090	N	0.02658	-0.545	0.37119	D	0.900721	B	0.06786	0.001	B	0.16722	0.016	T	0.45716	-0.9242	10	0.02654	T	1	.	4.8401	0.13485	0.2464:0.3779:0.0:0.3757	.	523	Q96T83	SL9A7_HUMAN	V	523	ENSP00000330320:I523V	ENSP00000330320:I523V	I	-	1	0	SLC9A7	46387661	0.964000	0.33143	0.995000	0.50966	0.910000	0.53928	0.061000	0.14366	-0.314000	0.08716	-0.451000	0.05528	ATC		PASS	0.502	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		15	15	15	15	---	---	---	---
PBDC1	51260	broad.mit.edu	37	X	75394775	75394775	+	Silent	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:75394775C>G	ENST00000373358.3	+	3	350	c.147C>G	c.(145-147)gtC>gtG	p.V49V	PBDC1_ENST00000373357.3_Silent_p.V49V	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	49								p.V49V(1)									ATGCTGAAGTCTATTACAAGG	0.403																																						uc004ecl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GTC>GTG		hypothetical protein LOC51260							141.0	113.0	123.0					X																	75394775		2203	4300	6503	SO:0001819	synonymous_variant	51260							g.chrX:75394775C>G	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.147C>G	X.37:g.75394775C>G							p.V49V	NM_016500	NP_057584	Q9BVG4	CX026_HUMAN			3	350	+			49						Silent	SNP	ENST00000373358.3	37	c.147C>G	CCDS14432.1																																																																																				PASS	0.403	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		8	43	8	43	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83362035	83362035	+	Silent	SNP	C	C	T			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:83362035C>T	ENST00000262752.2	-	14	1132	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	RPS6KA6_ENST00000543399.1_Silent_p.L375L|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	375	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L375L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CACTGGCTGGCAAACCGGGAG	0.333																																						uc004eej.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1123-1125)TTG>TTA		ribosomal protein S6 kinase polypeptide 6							58.0	55.0	56.0					X																	83362035		2203	4298	6501	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362035C>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1125G>A	X.37:g.83362035C>T						RPS6KA6_uc011mqt.1_Silent_p.L375L|RPS6KA6_uc011mqu.1_Silent_p.L272L	p.L375L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			14	1202	-			375			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.1125G>A	CCDS14451.1																																																																																				PASS	0.333	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		22	19	22	19	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86068160	86068160	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:86068160G>A	ENST00000373125.4	+	9	1417	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	DACH2_ENST00000510272.1_Missense_Mutation_p.A254T|DACH2_ENST00000508860.1_Missense_Mutation_p.A306T|DACH2_ENST00000373131.1_Missense_Mutation_p.A460T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	473	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A473T(1)|p.A460T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTTGGATAATGCTCGCATCCA	0.373																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1417-1419)GCT>ACT		dachshund 2 isoform a							34.0	33.0	33.0					X																	86068160		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068160G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1417G>A	X.37:g.86068160G>A	ENSP00000362217:p.Ala473Thr					DACH2_uc004eex.2_Missense_Mutation_p.A460T|DACH2_uc010nmq.2_Missense_Mutation_p.A339T|DACH2_uc011mra.1_Missense_Mutation_p.A306T|DACH2_uc010nmr.2_Missense_Mutation_p.A254T|DACH2_uc004eey.2_Missense_Mutation_p.A166T|DACH2_uc004eez.2_Missense_Mutation_p.A156T	p.A473T	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			9	1587	+			473			Potential.|DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1417G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496572	0.85069	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.92048	-2.9;-2.96	5.19	4.32	0.51571	.	0.078647	0.52532	N	0.000064	D	0.95490	0.8535	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;0.999;0.995;0.998	D	0.95240	0.8350	10	0.66056	D	0.02	.	12.651	0.56761	0.0819:0.0:0.9181:0.0	.	339;473;460;473	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	473;460;473;306;254;306;138	ENSP00000362223:A460T;ENSP00000362217:A473T	ENSP00000345134:A473T	A	+	1	0	DACH2	85954816	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.288000	0.96055	0.961000	0.38030	0.513000	0.50165	GCT		PASS	0.373	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	7	9	7	---	---	---	---
MIR363	574031	broad.mit.edu	37	X	133304114	133304114	+	RNA	SNP	C	C	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:133304114C>G	ENST00000384840.1	-	0	0				MIR18B_ENST00000454574.2_RNA|MIR92A2_ENST00000385299.1_RNA|MIR19B2_ENST00000385077.2_RNA|MIR106A_ENST00000384870.1_RNA|MIR20B_ENST00000384977.1_RNA	NR_029852.1				microRNA 363																		AGCTGCTTCACTAACTGCACT	0.398																																						hsa-mir-18b|MI0001518																			0					0															101.0	79.0	86.0					X																	133304114		1568	3582	5150			574033							g.chrX:133304114C>G			Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133304114C>G						MIR363_hsa-mir-363|MI0000764_5'Flank|MIR92A2_hsa-mir-92a-2|MI0000094_5'Flank|uc004exf.2_5'Flank|uc011mvi.1_5'Flank|MIR19B2_hsa-mir-19b-2|MI0000075_5'Flank|MIR20B_hsa-mir-20b|MI0001519_5'Flank										-									RNA	SNP	ENST00000384840.1	37	c.28C>G																																																																																					PASS	0.398	MIR363-201	KNOWN	basic	miRNA	miRNA		NR_029852		21	18	21	18	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138714595	138714595	+	Silent	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:138714595A>G	ENST00000370576.4	-	2	279	c.70T>C	c.(70-72)Ttg>Ctg	p.L24L	MCF2_ENST00000520602.1_Silent_p.L84L|MCF2_ENST00000414978.1_Silent_p.L84L|MCF2_ENST00000519895.1_Silent_p.L84L|MCF2_ENST00000370573.4_Silent_p.L24L|MCF2_ENST00000370578.4_Silent_p.L169L|MCF2_ENST00000536274.1_Silent_p.L24L|MCF2_ENST00000338585.6_Silent_p.L24L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	24	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.L24L(2)|p.L84L(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)					ACCAAGTGCAAGTTCCCAGGG	0.373																																						uc004fau.2																			3	Substitution - coding silent(3)		lung(3)	lung(1)|pleura(1)	2						c.(70-72)TTG>CTG		MCF.2 cell line derived transforming sequence							76.0	73.0	74.0					X																	138714595		2203	4300	6503	SO:0001819	synonymous_variant	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:138714595A>G		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.70T>C	X.37:g.138714595A>G						MCF2_uc004fav.2_Silent_p.L24L|MCF2_uc011mwl.1_Silent_p.L24L|MCF2_uc010nsh.1_Silent_p.L24L|MCF2_uc011mwm.1_Silent_p.L24L|MCF2_uc011mwn.1_Silent_p.L169L|MCF2_uc004faw.2_Silent_p.L84L|MCF2_uc011mwo.1_Silent_p.L84L	p.L24L	NM_005369	NP_005360	P10911	MCF2_HUMAN			2	364	-	Acute lymphoblastic leukemia(192;0.000127)		24			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.70T>C	CCDS14667.1																																																																																				PASS	0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		26	21	26	21	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138867415	138867415	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:138867415G>C	ENST00000327569.3	-	16	1743	c.1645C>G	c.(1645-1647)Cgt>Ggt	p.R549G	ATP11C_ENST00000359686.2_Missense_Mutation_p.R549G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.R549G|ATP11C_ENST00000370543.1_Missense_Mutation_p.R549G|ATP11C_ENST00000370557.1_Missense_Mutation_p.R546G	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	549					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R549G(2)|p.R549C(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACACTCATACGTCGCCGGACA	0.343																																						uc004faz.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(5)|large_intestine(3)	8						c.(1645-1647)CGT>GGT		ATPase, class VI, type 11C isoform a							108.0	95.0	99.0					X																	138867415		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138867415G>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1645C>G	X.37:g.138867415G>C	ENSP00000332756:p.Arg549Gly					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R549G	p.R549G	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			16	1744	-	Acute lymphoblastic leukemia(192;0.000127)		549			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1645C>G	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.767515|3.767515	0.69878|0.69878	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.72505	.|-0.66;-0.66;-0.66;-0.66;-0.66	5.77|5.77	4.91|4.91	0.64330|0.64330	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90758|0.90758	0.7099|0.7099	H|H	0.99555|0.99555	4.625|4.625	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.93498|0.93498	0.6842|0.6842	5|10	.|0.87932	.|D	.|0	.|.	12.839|12.839	0.57790|0.57790	0.0798:0.0:0.9202:0.0|0.0798:0.0:0.9202:0.0	.|.	.|549;549	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	E|G	100|546;549;549;549;549	.|ENSP00000359588:R546G;ENSP00000355165:R549G;ENSP00000332756:R549G;ENSP00000359574:R549G;ENSP00000352715:R549G	.|ENSP00000332756:R549G	D|R	-|-	3|1	2|0	ATP11C|ATP11C	138695081|138695081	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.933000|0.933000	0.57130|0.57130	5.900000|5.900000	0.69853|0.69853	1.186000|1.186000	0.42985|0.42985	0.600000|0.600000	0.82982|0.82982	GAC|CGT		PASS	0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		24	28	24	28	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147024824	147024824	+	Silent	SNP	A	A	G			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrX:147024824A>G	ENST00000370475.4	+	14	1577	c.1449A>G	c.(1447-1449)agA>agG	p.R483R	FMR1_ENST00000370470.1_Silent_p.R483R|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000218200.8_Silent_p.R462R|FMR1_ENST00000370477.1_Silent_p.R462R|FMR1_ENST00000439526.2_Silent_p.R460R|FMR1_ENST00000440235.2_Silent_p.R130R	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	483	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R483R(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACGGCAGACGCGGTCCTG	0.413									Fragile X syndrome																													uc010nst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1447-1449)AGA>AGG		fragile X mental retardation 1							133.0	123.0	127.0					X																	147024824		2203	4300	6503	SO:0001819	synonymous_variant	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024824A>G	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1449A>G	X.37:g.147024824A>G						FMR1_uc004fcj.2_Silent_p.R460R|FMR1_uc004fck.3_Silent_p.R462R|FMR1_uc004fcl.3_Silent_p.R323R|FMR1_uc011mxa.1_Silent_p.R130R	p.R483R	NM_002024	NP_002015	Q06787	FMR1_HUMAN			14	1638	+	Acute lymphoblastic leukemia(192;6.56e-05)		483			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	c.1449A>G	CCDS14682.1																																																																																				PASS	0.413	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		50	28	50	28	---	---	---	---
UTY	7404	broad.mit.edu	37	Y	15372158	15372158	+	Splice_Site	SNP	C	C	A			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chrY:15372158C>A	ENST00000331397.4	-	26	4853	c.3846G>T	c.(3844-3846)gaG>gaT	p.E1282D	UTY_ENST00000537580.1_Splice_Site_p.E1203D|UTY_ENST00000382896.4_Splice_Site_p.E1327D	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1282					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)	p.E1282D(2)		kidney(1)|lung(6)	7						AGTTACTCACCTCACAAATGC	0.353																																					Colon(103;1740 2135 40732 45171)	uc004fsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3844-3846)GAG>GAT		tetratricopeptide repeat protein isoform 3							110.0	109.0	110.0					Y																	15372158		626	1961	2587	SO:0001630	splice_region_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15372158C>A	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.3846+1G>T	Y.37:g.15372158C>A						UTY_uc004fsw.1_Missense_Mutation_p.E945D|UTY_uc010nwx.1_Missense_Mutation_p.E339D	p.E1282D	NM_007125	NP_009056	O14607	UTY_HUMAN			26	4851	-			1282					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.3846G>T	CCDS14783.1																																																																																				PASS	0.353	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	Missense_Mutation	55	27	55	27	---	---	---	---
LINC01347	731275	broad.mit.edu	37	1	243251423	243251423	+	lincRNA	DEL	A	A	-	rs200578702	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr1:243251423delA	ENST00000417964.1	-	0	1346																											actccatctcaaaaaaaaaaa	0.458													|||unknown(NO_COVERAGE)	1468	0.293131	0.3033	0.3098	5008	,	,		13610	0.3333		0.2396	False		,,,				2504	0.2812					uc001hzq.1																			0													Homo sapiens cDNA FLJ52610 complete cds.																																						0							g.chr1:243251423delA																													1.37:g.243251423delA														8		-									RNA	DEL	ENST00000417964.1	37	c.1209delT																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			6	3	6	3	---	---	---	---
COLEC11	78989	broad.mit.edu	37	2	3691412	3691412	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr2:3691412delG	ENST00000349077.4	+	7	623	c.520delG	c.(520-522)gggfs	p.G175fs	COLEC11_ENST00000403096.3_Frame_Shift_Del_p.G149fs|COLEC11_ENST00000382062.2_Frame_Shift_Del_p.G151fs|COLEC11_ENST00000402922.1_Frame_Shift_Del_p.G125fs|COLEC11_ENST00000402794.1_Frame_Shift_Del_p.G125fs|COLEC11_ENST00000236693.7_Frame_Shift_Del_p.G172fs|COLEC11_ENST00000404205.1_Frame_Shift_Del_p.G101fs|COLEC11_ENST00000418971.2_Frame_Shift_Del_p.G189fs|COLEC11_ENST00000487365.1_3'UTR	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	175	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.G189fs*3(1)|p.G172fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCAGGGCCGCGGGGGCACGCT	0.667																																						uc002qya.2																			2	Deletion - Frameshift(2)		large_intestine(2)		0						c.(520-522)GGGfs		collectin sub-family member 11 isoform a							32.0	34.0	33.0					2																	3691412		2201	4298	6499	SO:0001589	frameshift_variant	78989					collagen	mannose binding	g.chr2:3691412delG	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.520delG	2.37:g.3691412delG	ENSP00000339168:p.Gly175fs					COLEC11_uc002qxz.2_Frame_Shift_Del_p.G171fs|COLEC11_uc002qyb.2_Frame_Shift_Del_p.G150fs|COLEC11_uc002qyc.2_Frame_Shift_Del_p.G150fs|COLEC11_uc010ewo.2_Frame_Shift_Del_p.G126fs|COLEC11_uc010ewp.2_Frame_Shift_Del_p.G148fs|COLEC11_uc010ewq.2_Frame_Shift_Del_p.G124fs|COLEC11_uc010ewr.2_Frame_Shift_Del_p.G124fs|COLEC11_uc010ews.2_Frame_Shift_Del_p.G100fs	p.G174fs	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	668	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		174			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Frame_Shift_Del	DEL	ENST00000349077.4	37	c.520delG	CCDS1649.1																																																																																					0.667	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		51	24	51	24	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128564925	128564925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr4:128564925delT	ENST00000335251.6	+	2	499	c.396delT	c.(394-396)aatfs	p.N132fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.N132fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	132					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATAAAAAAAATAGCAATGACA	0.348																																						uc003ifk.1																			0				ovary(1)	1						c.(394-396)AATfs		PDZ domain containing 6							67.0	69.0	68.0					4																	128564925		2203	4300	6503	SO:0001589	frameshift_variant	27152							g.chr4:128564925delT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.396delT	4.37:g.128564925delT	ENSP00000334003:p.Asn132fs					INTU_uc011cgq.1_RNA	p.N132fs	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			2	466	+			132					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Del	DEL	ENST00000335251.6	37	c.396delT	CCDS34061.1																																																																																					0.348	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		49	58	49	58	---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139753544	139753545	+	Frame_Shift_Ins	INS	-	-	G	rs142983311		TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr9:139753544_139753545insG	ENST00000317446.2	+	24	3094_3095	c.3044_3045insG	c.(3043-3048)ctggagfs	p.E1016fs	MAMDC4_ENST00000445819.1_Frame_Shift_Ins_p.E1095fs|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CACCAGTGGCTGGAGGCCCAGG	0.668																																						uc004cjs.2																			0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(3043-3045)CTGfs		apical early endosomal glycoprotein precursor																																				SO:0001589	frameshift_variant	158056				protein transport	integral to membrane		g.chr9:139753544_139753545insG	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.3046dupG	9.37:g.139753546_139753546dupG	ENSP00000319388:p.Glu1016fs					MAMDC4_uc011mej.1_Frame_Shift_Ins_p.L352fs	p.L1015fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	24	3094_3095	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1094			Extracellular (Potential).|MAM 6.			Frame_Shift_Ins	INS	ENST00000317446.2	37	c.3044_3045insG	CCDS7010.1																																																																																					0.668	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		5	3	5	3	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						uc001lty.2																			0				lung(1)	1						c.(121-129)GGCTGTGGAdel		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47_49					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																					0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			15	14	15	14	---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184606	71184613	+	Start_Codon_Del	DEL	CGGCATGG	CGGCATGG	-			TCGA-21-1081-01A-01D-1521-08	TCGA-21-1081-10B-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	811f7a11-635c-4606-91fd-3729b97ffd8e	87fc0d2a-378d-4eee-b72a-860750d15af2	g.chr15:71184606_71184613delCGGCATGG	ENST00000249861.4	-	0	511_518				LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10								DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACAACGGGCCGGCATGGCGGCCGTCTT	0.707																																						uc002asv.2																			0				ovary(1)|skin(1)	2								THAP domain containing 10																																				SO:0001582	initiator_codon_variant	56906						DNA binding|metal ion binding	g.chr15:71184606_71184613delCGGCATGG	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388		15.37:g.71184606_71184613delCGGCATGG						LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank		NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			1		-								B2R8R0	Translation_Start_Site	DEL	ENST00000249861.4	37		CCDS10237.1																																																																																					0.707	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		5	3	5	3	---	---	---	---
